browser position chrX:13,752,832-13,787,480 browser hide all track name=ofd1 clin var pathogenic="ClinVar pathogenic" color=0,0,255, #chrom chromStart chromEnd name strand chromStarts origName type geneId geneSym clinSign snpId rcvAcc phenotype origin reviewStatus numSubmit # Filtering on 1 columns chrX 13753396 13753398 delAG . 0 NM_003611.2(OFD1):c.43_44delAG (p.Gln16Argfs) deletion 8481 OFD1 Pathogenic 312262806 RCV000034023 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13753418 13753419 dupA . 0 NM_003611.2(OFD1):c.65dupA (p.Leu23Alafs) duplication 8481 OFD1 Pathogenic 312262807 RCV000034036 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13753464 13753465 G>C . 0 NM_003611.2(OFD1):c.111G>C (p.Lys37Asn) single nucleotide variant 8481 OFD1 Pathogenic 312262808 RCV000033960 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13753464 13753465 G>A . 0 NM_003611.2(OFD1):c.111G>A (p.Lys37=) single nucleotide variant 8481 OFD1 Pathogenic 312262808 RCV000033959 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13753466 13753467 A>G . 0 NM_001011658.3(TRAPPC2):c.-985A>G single nucleotide variant 8481 OFD1 Pathogenic 312262809 RCV000033957,RCV000080338 ,GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13754605 13754606 C>T . 0 NM_003611.2(OFD1):c.121C>T (p.Arg41Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262810 RCV000033965 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754646 13754651 delTGGAG . 0 NM_003611.2(OFD1):c.162_166delTGGAG (p.Ser54Argfs) deletion 8481 OFD1 Pathogenic 312262811 RCV000033983 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754705 13754706 C>T . 0 NM_003611.2(OFD1):c.221C>T (p.Ser74Phe) single nucleotide variant 8481 OFD1 Pathogenic 312262812 RCV000033993 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754708 13754709 A>C . 0 NM_003611.2(OFD1):c.224A>C (p.Asn75Thr) single nucleotide variant 8481 OFD1 Pathogenic 312262813 RCV000033994 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754719 13754720 G>A . 0 NM_003611.2(OFD1):c.235G>A (p.Ala79Thr) single nucleotide variant 8481 OFD1 Pathogenic 312262814 RCV000033998 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754725 13754726 C>G . 0 NM_003611.2(OFD1):c.241C>G (p.His81Asp) single nucleotide variant 8481 OFD1 Pathogenic 312262815 RCV000033999 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754727 13754728 C>G . 0 NM_003611.2(OFD1):c.243C>G (p.His81Gln) single nucleotide variant 8481 OFD1 Pathogenic 312262816 RCV000034000 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754731 13754732 C>T . 0 NM_003611.2(OFD1):c.247C>T (p.Gln83Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262817 RCV000034001 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754744 13754745 A>G . 0 NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) single nucleotide variant 8481 OFD1 Pathogenic 312262818 RCV000034002 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754758 13754759 T>C . 0 NM_003611.2(OFD1):c.274T>C (p.Ser92Pro) single nucleotide variant 8481 OFD1 Pathogenic 312262819 RCV000034003 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754774 13754775 A>G . 0 NM_003611.2(OFD1):c.290A>G (p.Glu97Gly) single nucleotide variant 8481 OFD1 Pathogenic 312262820 RCV000034006 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754778 13754797 del19 . 0 NM_003611.2(OFD1):c.294_312del19 (p.Ser98Argfs) deletion 8481 OFD1 Pathogenic 312262821 RCV000034007 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13754796 13754797 delG . 0 NM_003611.2(OFD1):c.312delG (p.Val105Tyrfs) deletion 8481 OFD1 Pathogenic 312262822 RCV000012294 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13754798 13754805 delTAAAGTC . 0 NM_003611.2(OFD1):c.312+2_312+8delTAAAGTC deletion 8481 OFD1 Pathogenic 397507557 RCV000034008 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13756964 13756965 dupG . 0 NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) duplication 8481 OFD1 Pathogenic 312262823 RCV000034010 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13756988 13756989 C>T . 0 NM_003611.2(OFD1):c.337C>T (p.Gln113Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262825 RCV000034011 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757023 13757024 C>G . 0 NM_003611.2(OFD1):c.372C>G (p.Tyr124Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262826 RCV000034012 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757117 13757118 C>G . 0 NM_003611.2(OFD1):c.382-3C>G single nucleotide variant 8481 OFD1 Pathogenic 312262828 RCV000034015 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757118 13757119 A>G . 0 NM_003611.2(OFD1):c.382-2A>G single nucleotide variant 8481 OFD1 Pathogenic 312262829 RCV000034014 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757120 13757151 2 . 0 NM_003611.2(OFD1):c.382-?_412+?del (p.Ser(?_129)_Ser(129_?)Phefs) deletion 8481 OFD1 Pathogenic RCV000034013 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757138 13757142 delGAAA . 0 NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) deletion 8481 OFD1 Pathogenic 312262830 RCV000034016 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757149 13757150 delA . 0 NM_003611.2(OFD1):c.411delA (p.Gly138Valfs) deletion 8481 OFD1 Pathogenic 312262831 RCV000034017 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757150 13757151 G>A . 0 NM_003611.2(OFD1):c.412G>A (p.Gly138Ser) single nucleotide variant 8481 OFD1 Pathogenic 312262827 RCV000034019 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13757152 13757153 delT . 0 NM_003611.2(OFD1):c.412+2delT deletion 8481 OFD1 Pathogenic 312262832 RCV000034018 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13762523 13762524 T>G . 0 NM_003611.2(OFD1):c.413-10T>G single nucleotide variant 8481 OFD1 Pathogenic 312262833 RCV000012296 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13762551 13762552 dupT . 0 NM_003611.2(OFD1):c.431dupT (p.Leu144Phefs) duplication 8481 OFD1 Pathogenic 312262834 RCV000034022 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13762551 13762552 T>A . 0 NM_003611.2(OFD1):c.431T>A (p.Leu144Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262835 RCV000034021 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13762574 13762575 C>T . 0 NM_003611.2(OFD1):c.454C>T (p.Gln152Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262836 RCV000034025 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13762578 13762580 dupCT . 0 NM_003611.2(OFD1):c.458_459dupCT (p.Lys154Leufs) duplication 8481 OFD1 Pathogenic 398123810 RCV000080342 germline classified by single submitter 1 chrX 13764513 13764518 delAAAGC . 0 NM_003611.2(OFD1):c.594_598delAAAGC (p.Leu200Terfs) deletion 8481 OFD1 Pathogenic 312262837 RCV000034027 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764521 13764522 delA . 0 NM_003611.2(OFD1):c.602delA (p.Asn201Metfs) deletion 8481 OFD1 Pathogenic 312262838 RCV000034028 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764534 13764540 delAGAAAT . 0 NM_003611.2(OFD1):c.615_620delAGAAAT (p.Ile207_Glu208del) deletion 8481 OFD1 Pathogenic 312262839 RCV000034029 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764535 13764537 delGA . 0 NM_003611.2(OFD1):c.616_617delGA (p.Glu206Asnfs) deletion 8481 OFD1 Pathogenic 312262840 RCV000034030 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764547 13764548 C>T . 0 NM_003611.2(OFD1):c.628C>T (p.Gln210Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262841 RCV000034031 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764570 13768650 9 . 0 NG_008872.1:g.16740_20819del deletion 8481 OFD1 Pathogenic RCV000012298 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by single submitter 1 chrX 13764572 13764573 delA . 0 NM_003611.2(OFD1):c.653delA (p.Lys218Serfs) deletion 8481 OFD1 Pathogenic 312262842 RCV000034033 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764575 13764578 delTAA . 0 NM_003611.2(OFD1):c.654+2_654+4delTAA deletion 8481 OFD1 Pathogenic 397507558 RCV000034035 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764918 13764919 delC . 0 NM_003611.2(OFD1):c.675delC (p.Glu226Argfs) deletion 8481 OFD1 Pathogenic 312262844 RCV000034037 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764931 13764949 del18 . 0 NM_003611.2(OFD1):c.688_705del18 (p.Ile230_Lys235del) deletion 8481 OFD1 Pathogenic 398122866 RCV000029157 GeneReviews:NBK1325,MedGen:C2749019,OMIM:300804,Orphanet:ORPHA2754 germline classified by single submitter 1 chrX 13764950 13764963 delAAAAGTATGAAAA . 0 NM_003611.2(OFD1):c.707_719delAAAAGTATGAAAA (p.Lys236Argfs) deletion 8481 OFD1 Pathogenic 312262846 RCV000034039 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764952 13764954 delAA . 0 NM_003611.2(OFD1):c.709_710delAA (p.Lys237Valfs) deletion 8481 OFD1 Pathogenic 312262847 RCV000034040 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764953 13764954 dupA . 0 NM_003611.2(OFD1):c.710dupA (p.Tyr238Valfs) duplication 8481 OFD1 Pathogenic 312262845 RCV000034042 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by multiple submitters 1 chrX 13764953 13764954 delA . 0 NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) deletion 8481 OFD1 Pathogenic 312262848 RCV000034041 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13764955 13764956 delT . 0 NM_003611.2(OFD1):c.712delT (p.Tyr238Metfs) deletion 8481 OFD1 Pathogenic 312262849 RCV000034043 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13765033 13765034 dupG . 0 NM_003611.2(OFD1):c.790dupG (p.Glu264Glyfs) duplication 8481 OFD1 Pathogenic 312262850 RCV000034044 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13765066 13765067 C>T . 0 NM_003611.2(OFD1):c.823C>T (p.Gln275Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262851 RCV000034045 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767553 13767558 delAAAAG . 0 NM_003611.2(OFD1):c.837_841delAAAAG (p.Lys280Asnfs) deletion 8481 OFD1 Pathogenic 312262853 RCV000034047 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767553 13767555 delAA . 0 NM_003611.2(OFD1):c.837_838delAA (p.Lys280Argfs) deletion 8481 OFD1 Pathogenic 312262852 RCV000034046 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767555 13767557 delAA . 0 NM_003611.2(OFD1):c.839_840delAA (p.Lys280Argfs) deletion 8481 OFD1 Pathogenic 312262854 RCV000034048 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767559 13767561 delAA . 0 NM_003611.2(OFD1):c.843_844delAA (p.Glu281Aspfs) deletion 8481 OFD1 Pathogenic 312262855 RCV000034049 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767574 13767575 delG . 0 NM_003611.2(OFD1):c.858delG (p.Arg286Serfs) deletion 8481 OFD1 Pathogenic 312262856 RCV000034050 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767587 13767588 A>T . 0 NM_003611.2(OFD1):c.871A>T (p.Lys291Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262857 RCV000034051 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767593 13767595 delAT . 0 NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) deletion 8481 OFD1 Pathogenic 312262858 RCV000034052 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13767615 13767617 dupGA . 0 NM_003611.2(OFD1):c.898_899dupGA (p.Ala301Lysfs) duplication 8481 OFD1 Pathogenic 312262859 RCV000034053 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13767635 13767636 delG . 0 NM_003611.2(OFD1):c.919delG (p.Val307Leufs) deletion 8481 OFD1 Pathogenic 312262860 RCV000034054 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13771484 13771485 A>T . 0 NM_003611.2(OFD1):c.1056-2A>T single nucleotide variant 8481 OFD1 Pathogenic 312262861 RCV000033952 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13771501 13771509 delGAAGGATG . 0 NM_003611.2(OFD1):c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel 8481 OFD1 Pathogenic 312262862 RCV000033954 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13771529 13771530 C>T . 0 NM_003611.2(OFD1):c.1099C>T (p.Arg367Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262863 RCV000033955 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13771530 13771531 G>A . 0 NM_003611.2(OFD1):c.1100G>A (p.Arg367Gln) single nucleotide variant 8481 OFD1 Pathogenic 312262864 RCV000033956 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13773247 13773251 delAATT . 0 NM_003611.2(OFD1):c.1130-22_1130-19delAATT deletion 8481 OFD1 Pathogenic 312262865 RCV000033961 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13773317 13773318 dupA . 0 NM_003611.2(OFD1):c.1178dupA (p.Glu394Glyfs) duplication 8481 OFD1 Pathogenic 312262866 RCV000033962 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13773324 13773325 delA . 0 NM_003611.2(OFD1):c.1185delA (p.Glu395Aspfs) deletion 8481 OFD1 Pathogenic 312262867 RCV000033963 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13773332 13773336 delAATC . 0 NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs) deletion 8481 OFD1 Pathogenic 312262868 RCV000033964,RCV000146976 ,GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13773359 13773362 delAGG . 0 NM_003611.2(OFD1):c.1220_1221+1delAGG deletion 8481 OFD1 Pathogenic 312262869 RCV000033966 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13773361 13773362 delG . 0 NM_003611.2(OFD1):c.1221+1delG deletion 8481 OFD1 Pathogenic 312262870 RCV000033967 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774742 13774747 delAAAAC . 0 NM_003611.2(OFD1):c.1268_1272delAAAAC (p.Gln423Profs) deletion 8481 OFD1 Pathogenic 312262871 RCV000033969 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774777 13774778 A>C . 0 NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg) single nucleotide variant 8481 OFD1 Pathogenic 122460150 RCV000012293 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13774792 13774793 delC . 0 NM_003611.2(OFD1):c.1318delC (p.Leu440Terfs) deletion 8481 OFD1 Pathogenic 312262872 RCV000033971 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774793 13774794 delT . 0 NM_003611.2(OFD1):c.1319delT (p.Leu440Glnfs) deletion 8481 OFD1 Pathogenic 312262873 RCV000033972 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774796 13774801 delAAGAA . 0 NM_003611.2(OFD1):c.1322_1326delAAGAA (p.Lys441Argfs) deletion 8481 OFD1 Pathogenic 312262874 RCV000033973 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774797 13774801 delAGAA . 0 NM_003611.2(OFD1):c.1323_1326delAGAA (p.Glu442Argfs) deletion 8481 OFD1 Pathogenic 312262875 RCV000033974 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774806 13774807 delA . 0 NM_003611.2(OFD1):c.1332delA (p.Lys444Asnfs) deletion 8481 OFD1 Pathogenic RCV000146978 germline classified by single submitter 1 chrX 13774808 13774810 delTG . 0 NM_003611.2(OFD1):c.1334_1335delTG (p.Leu445Argfs) deletion 8481 OFD1 Pathogenic 312262876 RCV000033975 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774832 13774833 T>A . 0 NM_003611.2(OFD1):c.1358T>A (p.Leu453Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262877 RCV000033976 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774834 13774838 delCTTA . 0 NM_003611.2(OFD1):c.1360_1363delCTTA (p.Leu454Asnfs) deletion 8481 OFD1 Pathogenic 312262878 RCV000033977 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13774883 13774884 delA . 0 NM_003611.2(OFD1):c.1409delA (p.Asn470Thrfs) deletion 8481 OFD1 Pathogenic 312262879 RCV000033978 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13775786 13775787 C>T . 0 NM_003611.2(OFD1):c.1420C>T (p.Gln474Ter) single nucleotide variant 8481 OFD1 Pathogenic 312262880 RCV000033979 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13775811 13775813 delTT . 0 NM_003611.2(OFD1):c.1445_1446delTT (p.Phe482Serfs) deletion 8481 OFD1 Pathogenic 312262881 RCV000033980 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13775818 13775825 delAGAACTA . 0 NM_003611.2(OFD1):c.1452_1458delAGAACTA (p.Lys484Asnfs) deletion 8481 OFD1 Pathogenic 312262882 RCV000033981 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13776453 13776454 A>C . 0 NM_003611.2(OFD1):c.1543-2A>C single nucleotide variant 8481 OFD1 Pathogenic 398123809 RCV000080340 germline classified by single submitter 1 chrX 13776499 13776500 delA . 0 NM_003611.2(OFD1):c.1587delA (p.Ala530Leufs) deletion 8481 OFD1 Pathogenic 312262883 RCV000033982 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13778335 13778336 delG . 0 NM_003611.2(OFD1):c.1757delG (p.Ser586Metfs) deletion 8481 OFD1 Pathogenic 312262884 RCV000033984 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13778399 13778400 delG . 0 NM_003611.2(OFD1):c.1821delG (p.Ile608Serfs) deletion 8481 OFD1 Pathogenic 312262885 RCV000033985 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13778465 13778467 insAT . 0 NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs) insertion 8481 OFD1 Pathogenic 312262886 RCV000012297 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 germline classified by multiple submitters 2 chrX 13778557 13778559 delCT . 0 NM_003611.2(OFD1):c.1979_1980delCT (p.Ser660Cysfs) deletion 8481 OFD1 Pathogenic 312262887 RCV000033988 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13778622 13778623 dupA . 0 NM_003611.2(OFD1):c.2044dupA (p.Ile682Asnfs) duplication 8481 OFD1 Pathogenic 312262888 RCV000033989 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13778634 13778635 delT . 0 NM_003611.2(OFD1):c.2056delT (p.Ser686Profs) deletion 8481 OFD1 Pathogenic 312262889 RCV000033990 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13778701 13778705 dupAAGA . 0 NM_003611.2(OFD1):c.2123_2126dupAAGA (p.Asn711Lysfs) duplication 8481 OFD1 Pathogenic 312262890 RCV000033991,RCV000012299 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006,MedGen:C1846175,OMIM:300209,Orphanet:ORPHA79022 germline classified by multiple submitters 2 chrX 13778754 13778755 delC . 0 NM_003611.2(OFD1):c.2176delC (p.Arg726Alafs) deletion 8481 OFD1 Pathogenic 312262891 RCV000033992 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13779202 13779203 G>T . 0 NM_003611.2(OFD1):c.2261-1G>T single nucleotide variant 8481 OFD1 Pathogenic 312262892 RCV000033995 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13779203 13779330 c.(?_2261)_(238... . 0 NM_003611.2(OFD1):c.(?_2261)_(2387_?)del (p.Gly(?_754)_Gly(754_?)Valfs) deletion 8481 OFD1 Pathogenic RCV000033996 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13779291 13779292 delC . 0 NM_003611.2(OFD1):c.2349delC (p.Ile784Serfs) deletion 8481 OFD1 Pathogenic 312262893 RCV000033997 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006 not provided classified by single submitter 1 chrX 13786181 13786182 delG . 0 NM_003611.2(OFD1):c.2767delG (p.Glu923Lysfs) deletion 8481 OFD1 Pathogenic 312262894 RCV000034004,RCV000012301 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006,GeneReviews:NBK1325,MedGen:C2749019,OMIM:300804,Orphanet:ORPHA2754 germline classified by multiple submitters 2 chrX 13786255 13786262 delAAAAGAC . 0 NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs) deletion 8481 OFD1 Pathogenic 312262895 RCV000034005,RCV000012300 GeneReviews:NBK1188,MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006,GeneReviews:NBK1325,MedGen:C2749019,OMIM:300804,Orphanet:ORPHA2754 germline classified by multiple submitters 2