Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_003611.2(OFD1):c.(?_-360)_828+?del | 8481 | OFD1 | Pathogenic | -1 | RCV000033949; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13752831 | 13765072 | NM_003611.2:c.(?_-360)_828+?del | | | dbVar:nssv7487235,dbVar:nsv1197532 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.(?_-311)_1542+?del | 8481 | OFD1 | Pathogenic | -1 | RCV000033950; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13752832 | 13775909 | NM_003611.2:c.(?_-311)_1542+?del | | | dbVar:nssv7487179,dbVar:nsv1197533 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.-296G>T | 8481 | OFD1 | Benign | 2285635 | RCV000034056; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13752895 | 13752895 | NM_003611.2:c.-296G>T | | NC_000023.10:g.13752895G>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.43_44delAG (p.Gln16Argfs) | 8481 | OFD1 | Pathogenic | 312262806 | RCV000034023; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13753397 | 13753398 | NM_003611.2:c.43_44delAG | NP_003602.1:p.Gln16Argfs | NC_000023.10:g.13753397_13753398delAG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.65dupA (p.Leu23Alafs) | 8481 | OFD1 | Pathogenic | 312262807 | RCV000034036; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13753419 | 13753419 | NM_003611.2:c.65dupA | NP_003602.1:p.Leu23Alafs | NC_000023.10:g.13753419dupA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.111G>A (p.Lys37=) | 8481 | OFD1 | Pathogenic | 312262808 | RCV000033959; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13753465 | 13753465 | NM_003611.2:c.111G>A | NP_003602.1:p.Lys37= | NC_000023.10:g.13753465G>A,NC_000023.10:g.13753465G>C | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.111G>C (p.Lys37Asn) | 8481 | OFD1 | Pathogenic | 312262808 | RCV000033960; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13753465 | 13753465 | NM_003611.2:c.111G>C | NP_003602.1:p.Lys37Asn | NC_000023.10:g.13753465G>A,NC_000023.10:g.13753465G>C | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.111+2T>C | 8481 | OFD1 | Pathogenic | 312262809 | RCV000033957; RCV000080338; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN221809 | X | 13753467 | 13753467 | NM_003611.2:c.111+2T>C | | NC_000023.10:g.13753467T>C | HGMD:CS085069 | CN221809 not provided; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.111+3A>G | 8481 | OFD1 | Benign | 312262804 | RCV000033958; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13753468 | 13753468 | NM_003611.2:c.111+3A>G | | NC_000023.10:g.13753468A>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.121C>T (p.Arg41Ter) | 8481 | OFD1 | Pathogenic | 312262810 | RCV000033965; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754606 | 13754606 | NM_003611.2:c.121C>T | NP_003602.1:p.Arg41Ter | NC_000023.10:g.13754606C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.162_166delTGGAG (p.Ser54Argfs) | 8481 | OFD1 | Pathogenic | 312262811 | RCV000033983; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754647 | 13754651 | NM_003611.2:c.162_166delTGGAG | NP_003602.1:p.Ser54Argfs | NC_000023.10:g.13754647_13754651delTGGAG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.221C>T (p.Ser74Phe) | 8481 | OFD1 | Pathogenic | 312262812 | RCV000033993; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754706 | 13754706 | NM_003611.2:c.221C>T | NP_003602.1:p.Ser74Phe | NC_000023.10:g.13754706C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.224A>C (p.Asn75Thr) | 8481 | OFD1 | Pathogenic | 312262813 | RCV000033994; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754709 | 13754709 | NM_003611.2:c.224A>C | NP_003602.1:p.Asn75Thr | NC_000023.10:g.13754709A>C | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.231A>C (p.Leu77Phe) | 8481 | OFD1 | Uncertain significance | 587784232 | RCV000146982; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754716 | 13754716 | NM_003611.2:c.231A>C | NP_003602.1:p.Leu77Phe | NC_000023.10:g.13754716A>C | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.235G>A (p.Ala79Thr) | 8481 | OFD1 | Pathogenic | 312262814 | RCV000033998; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754720 | 13754720 | NM_003611.2:c.235G>A | NP_003602.1:p.Ala79Thr | NC_000023.10:g.13754720G>A | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.241C>G (p.His81Asp) | 8481 | OFD1 | Pathogenic | 312262815 | RCV000033999; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754726 | 13754726 | NM_003611.2:c.241C>G | NP_003602.1:p.His81Asp | NC_000023.10:g.13754726C>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.243C>G (p.His81Gln) | 8481 | OFD1 | Pathogenic | 312262816 | RCV000034000; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754728 | 13754728 | NM_003611.2:c.243C>G | NP_003602.1:p.His81Gln | NC_000023.10:g.13754728C>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.247C>T (p.Gln83Ter) | 8481 | OFD1 | Pathogenic | 312262817 | RCV000034001; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754732 | 13754732 | NM_003611.2:c.247C>T | NP_003602.1:p.Gln83Ter | NC_000023.10:g.13754732C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) | 8481 | OFD1 | Pathogenic | 312262818 | RCV000034002; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754745 | 13754745 | NM_003611.2:c.260A>G | NP_003602.1:p.Tyr87Cys | NC_000023.10:g.13754745A>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.274T>C (p.Ser92Pro) | 8481 | OFD1 | Pathogenic | 312262819 | RCV000034003; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754759 | 13754759 | NM_003611.2:c.274T>C | NP_003602.1:p.Ser92Pro | NC_000023.10:g.13754759T>C | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.290A>G (p.Glu97Gly) | 8481 | OFD1 | Pathogenic | 312262820 | RCV000034006; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754775 | 13754775 | NM_003611.2:c.290A>G | NP_003602.1:p.Glu97Gly | NC_000023.10:g.13754775A>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.294_312del19 (p.Ser98Argfs) | 8481 | OFD1 | Pathogenic | 312262821 | RCV000034007; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754779 | 13754797 | NM_003611.2:c.294_312del19 | NP_003602.1:p.Ser98Argfs | NC_000023.10:g.13754779_13754797del19 | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.312delG (p.Val105Tyrfs) | 8481 | OFD1 | Pathogenic | 312262822 | RCV000012294; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754797 | 13754797 | NM_003611.2:c.312delG | NP_003602.1:p.Val105Tyrfs | NC_000023.10:g.13754797delG | OMIM Allelic Variant:300170.0002 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.312+2_312+8delTAAAGTC | 8481 | OFD1 | Pathogenic | 397507557 | RCV000034008; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13754799 | 13754805 | NM_003611.2:c.312+2_312+8delTAAAGTC | | NC_000023.10:g.13754799_13754805delTAAAGTC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) | 8481 | OFD1 | Pathogenic | 312262823 | RCV000034010; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13756965 | 13756965 | NM_003611.2:c.313dupG | NP_003602.1:p.Val105Glyfs | NC_000023.10:g.13756965dupG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.337C>T (p.Gln113Ter) | 8481 | OFD1 | Pathogenic | 312262825 | RCV000034011; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13756989 | 13756989 | NM_003611.2:c.337C>T | NP_003602.1:p.Gln113Ter | NC_000023.10:g.13756989C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.355C>A (p.Pro119Thr) | 8481 | OFD1 | Likely benign | 202103941 | RCV000205740; | N | MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757007 | 13757007 | NM_003611.2:c.355C>A | NP_003602.1:p.Pro119Thr | | - | C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.372C>G (p.Tyr124Ter) | 8481 | OFD1 | Pathogenic | 312262826 | RCV000034012; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757024 | 13757024 | NM_003611.2:c.372C>G | NP_003602.1:p.Tyr124Ter | NC_000023.10:g.13757024C>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.382-3C>G | 8481 | OFD1 | Pathogenic | 312262828 | RCV000034015; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757118 | 13757118 | NM_003611.2:c.382-3C>G | | NC_000023.10:g.13757118C>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.382-2A>G | 8481 | OFD1 | Pathogenic | 312262829 | RCV000034014; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757119 | 13757119 | NM_003611.2:c.382-2A>G | | NC_000023.10:g.13757119A>G | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.382-?_412+?del | 8481 | OFD1 | Pathogenic | -1 | RCV000034013; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757121 | 13757151 | NM_003611.2:c.382-?_412+?del | | | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) | 8481 | OFD1 | Pathogenic | 312262830 | RCV000034016; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757139 | 13757142 | NM_003611.2:c.400_403delGAAA | NP_003602.1:p.Glu134Ilefs | NC_000023.10:g.13757139_13757142delGAAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.411delA (p.Gly138Valfs) | 8481 | OFD1 | Pathogenic | 312262831 | RCV000034017; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757150 | 13757150 | NM_003611.2:c.411delA | NP_003602.1:p.Gly138Valfs | NC_000023.10:g.13757150delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.412G>A (p.Gly138Ser) | 8481 | OFD1 | Pathogenic | 312262827 | RCV000034019; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757151 | 13757151 | NM_003611.2:c.412G>A | NP_003602.1:p.Gly138Ser | NC_000023.10:g.13757151G>A | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.412+2delT | 8481 | OFD1 | Pathogenic | 312262832 | RCV000034018; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13757153 | 13757153 | NM_003611.2:c.412+2delT | | NC_000023.10:g.13757153delT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.413-10T>G | 8481 | OFD1 | Pathogenic | 312262833 | RCV000012296; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13762524 | 13762524 | NM_003611.2:c.413-10T>G | | NC_000023.10:g.13762524T>G | OMIM Allelic Variant:300170.0004 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.431T>A (p.Leu144Ter) | 8481 | OFD1 | Pathogenic | 312262835 | RCV000034021; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13762552 | 13762552 | NM_003611.2:c.431T>A | NP_003602.1:p.Leu144Ter | NC_000023.10:g.13762552T>A | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.431dupT (p.Leu144Phefs) | 8481 | OFD1 | Pathogenic | 312262834 | RCV000034022; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13762552 | 13762552 | NM_003611.2:c.431dupT | NP_003602.1:p.Leu144Phefs | NC_000023.10:g.13762552dupT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.454C>T (p.Gln152Ter) | 8481 | OFD1 | Pathogenic | 312262836 | RCV000034025; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13762575 | 13762575 | NM_003611.2:c.454C>T | NP_003602.1:p.Gln152Ter | NC_000023.10:g.13762575C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.518-?_935+?del | 8481 | OFD1 | Pathogenic | -1 | RCV000034026; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764438 | 13767652 | NM_003611.2:c.518-?_935+?del | | | dbVar:nssv7487188,dbVar:nsv1197534 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.594_598delAAAGC (p.Leu200Terfs) | 8481 | OFD1 | Pathogenic | 312262837 | RCV000034027; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764514 | 13764518 | NM_003611.2:c.594_598delAAAGC | NP_003602.1:p.Leu200Terfs | NC_000023.10:g.13764514_13764518delAAAGC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.602delA (p.Asn201Metfs) | 8481 | OFD1 | Pathogenic | 312262838 | RCV000034028; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764522 | 13764522 | NM_003611.2:c.602delA | NP_003602.1:p.Asn201Metfs | NC_000023.10:g.13764522delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.615_620delAGAAAT (p.Ile207_Glu208del) | 8481 | OFD1 | Pathogenic | 312262839 | RCV000034029; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764535 | 13764540 | NM_003611.2:c.615_620delAGAAAT | NP_003602.1:p.Ile207_Glu208del | NC_000023.10:g.13764535_13764540delAGAAAT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.616_617delGA (p.Glu206Asnfs) | 8481 | OFD1 | Pathogenic | 312262840 | RCV000034030; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764536 | 13764537 | NM_003611.2:c.616_617delGA | NP_003602.1:p.Glu206Asnfs | NC_000023.10:g.13764536_13764537delGA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.628C>T (p.Gln210Ter) | 8481 | OFD1 | Pathogenic | 312262841 | RCV000034031; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764548 | 13764548 | NM_003611.2:c.628C>T | NP_003602.1:p.Gln210Ter | NC_000023.10:g.13764548C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NG_008872.1:g.16740_20819del4080 | 8481 | OFD1 | Pathogenic | -1 | RCV000012298; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764571 | 13768650 | - | - | | OMIM Allelic Variant:300170.0006,dbVar:nssv3761568,dbVar:nsv1067922 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.653delA (p.Lys218Serfs) | 8481 | OFD1 | Pathogenic | 312262842 | RCV000034033; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764573 | 13764573 | NM_003611.2:c.653delA | NP_003602.1:p.Lys218Serfs | NC_000023.10:g.13764573delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.654+2_654+4delTAA | 8481 | OFD1 | Pathogenic | 397507558 | RCV000034035; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764576 | 13764578 | NM_003611.2:c.654+2_654+4delTAA | | NC_000023.10:g.13764576_13764578delTAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.654+29G>A | 8481 | OFD1 | Benign | 312262805 | RCV000034034; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764603 | 13764603 | NM_003611.2:c.654+29G>A | | NC_000023.10:g.13764603G>A | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.675delC (p.Glu226Argfs) | 8481 | OFD1 | Pathogenic | 312262844 | RCV000034037; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764919 | 13764919 | NM_003611.2:c.675delC | NP_003602.1:p.Glu226Argfs | NC_000023.10:g.13764919delC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.707_719delAAAAGTATGAAAA (p.Lys236Argfs) | 8481 | OFD1 | Pathogenic | 312262846 | RCV000034039; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764951 | 13764963 | NM_003611.2:c.707_719delAAAAGTATGAAAA | NP_003602.1:p.Lys236Argfs | NC_000023.10:g.13764951_13764963delAAAAGTATGAAAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.709_710delAA (p.Lys237Valfs) | 8481 | OFD1 | Pathogenic | 312262847 | RCV000034040; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764953 | 13764954 | NM_003611.2:c.709_710delAA | NP_003602.1:p.Lys237Valfs | NC_000023.10:g.13764953_13764954delAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) | 8481 | OFD1 | Pathogenic | 312262848 | RCV000034041; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764954 | 13764954 | NM_003611.2:c.710delA | NP_003602.1:p.Lys237Serfs | NC_000023.10:g.13764954delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.710dupA (p.Tyr238Valfs) | 8481 | OFD1 | Pathogenic | 312262845 | RCV000034042; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764954 | 13764954 | NM_003611.2:c.710dupA | NP_003602.1:p.Tyr238Valfs | NC_000023.10:g.13764954dupA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.712delT (p.Tyr238Metfs) | 8481 | OFD1 | Pathogenic | 312262849 | RCV000034043; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13764956 | 13764956 | NM_003611.2:c.712delT | NP_003602.1:p.Tyr238Metfs | NC_000023.10:g.13764956delT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.790dupG (p.Glu264Glyfs) | 8481 | OFD1 | Pathogenic | 312262850 | RCV000034044; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13765034 | 13765034 | NM_003611.2:c.790dupG | NP_003602.1:p.Glu264Glyfs | NC_000023.10:g.13765034dupG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.823C>T (p.Gln275Ter) | 8481 | OFD1 | Pathogenic | 312262851 | RCV000034045; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13765067 | 13765067 | NM_003611.2:c.823C>T | NP_003602.1:p.Gln275Ter | NC_000023.10:g.13765067C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.837_841delAAAAG (p.Lys280Asnfs) | 8481 | OFD1 | Pathogenic | 312262853 | RCV000034047; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767554 | 13767558 | NM_003611.2:c.837_841delAAAAG | NP_003602.1:p.Lys280Asnfs | NC_000023.10:g.13767554_13767558delAAAAG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.839_840delAA (p.Lys280Argfs) | 8481 | OFD1 | Pathogenic | 312262852 | RCV000034048; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767556 | 13767557 | NM_003611.2:c.839_840delAA | NP_003602.1:p.Lys280Argfs | NC_000023.10:g.13767556_13767557delAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.843_844delAA (p.Glu281Aspfs) | 8481 | OFD1 | Pathogenic | 312262855 | RCV000034049; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767560 | 13767561 | NM_003611.2:c.843_844delAA | NP_003602.1:p.Glu281Aspfs | NC_000023.10:g.13767560_13767561delAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.858delG (p.Arg286Serfs) | 8481 | OFD1 | Pathogenic | 312262856 | RCV000034050; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767575 | 13767575 | NM_003611.2:c.858delG | NP_003602.1:p.Arg286Serfs | NC_000023.10:g.13767575delG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.871A>T (p.Lys291Ter) | 8481 | OFD1 | Pathogenic | 312262857 | RCV000034051; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767588 | 13767588 | NM_003611.2:c.871A>T | NP_003602.1:p.Lys291Ter | NC_000023.10:g.13767588A>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) | 8481 | OFD1 | Pathogenic | 312262858 | RCV000034052; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767594 | 13767595 | NM_003611.2:c.877_878delAT | NP_003602.1:p.Met293Glyfs | NC_000023.10:g.13767594_13767595delAT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.898_899dupGA (p.Ala301Lysfs) | 8481 | OFD1 | Pathogenic | 312262859 | RCV000034053; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767615 | 13767616 | NM_003611.2:c.898_899dupGA | NP_003602.1:p.Ala301Lysfs | NC_000023.10:g.13767615_13767616dupGA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.919delG (p.Val307Leufs) | 8481 | OFD1 | Pathogenic | 312262860 | RCV000034054; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13767636 | 13767636 | NM_003611.2:c.919delG | NP_003602.1:p.Val307Leufs | NC_000023.10:g.13767636delG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.936-?_1129+?del | 8481 | OFD1 | Pathogenic | -1 | RCV000034055; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13769368 | 13771560 | NM_003611.2:c.936-?_1129+?del | | | dbVar:nssv7487145,dbVar:nsv1197535 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs) | 8481 | OFD1 | Uncertain significance | 864622390 | RCV000204073; | N | MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13769439 | 13769439 | NM_003611.2:c.1007dupA | NP_003602.1:p.Ser337Glufs | | - | C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1056-2A>T | 8481 | OFD1 | Pathogenic | 312262861 | RCV000033952; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13771485 | 13771485 | NM_003611.2:c.1056-2A>T | | NC_000023.10:g.13771485A>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) | 8481 | OFD1 | Pathogenic | 312262862 | RCV000033954; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13771502 | 13771509 | NM_003611.2:c.1071_1078delGAAGGATGinsTTTTTCCT | NP_003602.1:p.Lys358_Asp360delinsPheSerTyr | NC_000023.10:g.13771502_13771509delGAAGGATGinsTTTTTCCT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1099C>T (p.Arg367Ter) | 8481 | OFD1 | Pathogenic | 312262863 | RCV000033955; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13771530 | 13771530 | NM_003611.2:c.1099C>T | NP_003602.1:p.Arg367Ter | NC_000023.10:g.13771530C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1100G>A (p.Arg367Gln) | 8481 | OFD1 | Pathogenic | 312262864 | RCV000033956; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13771531 | 13771531 | NM_003611.2:c.1100G>A | NP_003602.1:p.Arg367Gln | NC_000023.10:g.13771531G>A | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1130-22_1130-19delAATT | 8481 | OFD1 | Pathogenic | 312262865 | RCV000033961; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13773248 | 13773251 | NM_003611.2:c.1130-22_1130-19delAATT | | NC_000023.10:g.13773248_13773251delAATT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1178dupA (p.Glu394Glyfs) | 8481 | OFD1 | Pathogenic | 312262866 | RCV000033962; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13773318 | 13773318 | NM_003611.2:c.1178dupA | NP_003602.1:p.Glu394Glyfs | NC_000023.10:g.13773318dupA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1185delA (p.Glu395Aspfs) | 8481 | OFD1 | Pathogenic | 312262867 | RCV000033963; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13773325 | 13773325 | NM_003611.2:c.1185delA | NP_003602.1:p.Glu395Aspfs | NC_000023.10:g.13773325delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs) | 8481 | OFD1 | Pathogenic | 312262868 | RCV000033964; RCV000146976; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN221809 | X | 13773333 | 13773336 | NM_003611.2:c.1193_1196delAATC | NP_003602.1:p.Gln398Leufs | NC_000023.10:g.13773333_13773336delAATC | - | CN221809 not provided; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1220_1221+1delAGG | 8481 | OFD1 | Pathogenic | 312262869 | RCV000033966; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13773360 | 13773362 | NM_003611.2:c.1220_1221+1delAGG | | NC_000023.10:g.13773360_13773362delAGG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1221+1delG | 8481 | OFD1 | Pathogenic | 312262870 | RCV000033967; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13773362 | 13773362 | NM_003611.2:c.1221+1delG | | NC_000023.10:g.13773362delG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1268_1272delAAAAC (p.Gln423Profs) | 8481 | OFD1 | Pathogenic | 312262871 | RCV000033969; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774743 | 13774747 | NM_003611.2:c.1268_1272delAAAAC | NP_003602.1:p.Gln423Profs | NC_000023.10:g.13774743_13774747delAAAAC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1294A>G (p.Lys432Glu) | 8481 | OFD1 | Uncertain significance | 142352920 | RCV000168046; | N | MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774769 | 13774769 | NM_003611.2:c.1294A>G | NP_003602.1:p.Lys432Glu | NC_000023.10:g.13774769A>G | - | C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg) | 8481 | OFD1 | Pathogenic | 122460150 | RCV000012293; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774778 | 13774778 | NM_003611.2:c.1303A>C | NP_003602.1:p.Ser435Arg | NC_000023.10:g.13774778A>C | OMIM Allelic Variant:300170.0001 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1318delC (p.Leu440Terfs) | 8481 | OFD1 | Pathogenic | 312262872 | RCV000033971; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774793 | 13774793 | NM_003611.2:c.1318delC | NP_003602.1:p.Leu440Terfs | NC_000023.10:g.13774793delC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1319delT (p.Leu440Glnfs) | 8481 | OFD1 | Pathogenic | 312262873 | RCV000033972; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774794 | 13774794 | NM_003611.2:c.1319delT | NP_003602.1:p.Leu440Glnfs | NC_000023.10:g.13774794delT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1322_1326delAAGAA (p.Lys441Argfs) | 8481 | OFD1 | Pathogenic | 312262874 | RCV000033973; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774797 | 13774801 | NM_003611.2:c.1322_1326delAAGAA | NP_003602.1:p.Lys441Argfs | NC_000023.10:g.13774797_13774801delAAGAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1323_1326delAGAA (p.Glu442Argfs) | 8481 | OFD1 | Pathogenic | 312262875 | RCV000033974; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774798 | 13774801 | NM_003611.2:c.1323_1326delAGAA | NP_003602.1:p.Glu442Argfs | NC_000023.10:g.13774798_13774801delAGAA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1334_1335delTG (p.Leu445Argfs) | 8481 | OFD1 | Pathogenic | 312262876 | RCV000033975; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774809 | 13774810 | NM_003611.2:c.1334_1335delTG | NP_003602.1:p.Leu445Argfs | NC_000023.10:g.13774809_13774810delTG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1358T>A (p.Leu453Ter) | 8481 | OFD1 | Pathogenic | 312262877 | RCV000033976; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774833 | 13774833 | NM_003611.2:c.1358T>A | NP_003602.1:p.Leu453Ter | NC_000023.10:g.13774833T>A | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1360_1363delCTTA (p.Leu454Asnfs) | 8481 | OFD1 | Pathogenic | 312262878 | RCV000033977; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774835 | 13774838 | NM_003611.2:c.1360_1363delCTTA | NP_003602.1:p.Leu454Asnfs | NC_000023.10:g.13774835_13774838delCTTA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser) | 8481 | OFD1 | Uncertain significance | 140561107 | RCV000196961; | N | MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774874 | 13774874 | NM_003611.2:c.1399C>A | NP_003602.1:p.Arg467Ser | NC_000023.10:g.13774874C>A,NC_000023.10:g.13774874C>T | - | C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1409delA (p.Asn470Thrfs) | 8481 | OFD1 | Pathogenic | 312262879 | RCV000033978; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13774884 | 13774884 | NM_003611.2:c.1409delA | NP_003602.1:p.Asn470Thrfs | NC_000023.10:g.13774884delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1420C>T (p.Gln474Ter) | 8481 | OFD1 | Pathogenic | 312262880 | RCV000033979; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13775787 | 13775787 | NM_003611.2:c.1420C>T | NP_003602.1:p.Gln474Ter | NC_000023.10:g.13775787C>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1445_1446delTT (p.Phe482Serfs) | 8481 | OFD1 | Pathogenic | 312262881 | RCV000033980; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13775812 | 13775813 | NM_003611.2:c.1445_1446delTT | NP_003602.1:p.Phe482Serfs | NC_000023.10:g.13775812_13775813delTT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1452_1458delAGAACTA (p.Lys484Asnfs) | 8481 | OFD1 | Pathogenic | 312262882 | RCV000033981; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13775819 | 13775825 | NM_003611.2:c.1452_1458delAGAACTA | NP_003602.1:p.Lys484Asnfs | NC_000023.10:g.13775819_13775825delAGAACTA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1587delA (p.Ala530Leufs) | 8481 | OFD1 | Pathogenic | 312262883 | RCV000033982; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13776500 | 13776500 | NM_003611.2:c.1587delA | NP_003602.1:p.Ala530Leufs | NC_000023.10:g.13776500delA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1757delG (p.Ser586Metfs) | 8481 | OFD1 | Pathogenic | 312262884 | RCV000033984; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778336 | 13778336 | NM_003611.2:c.1757delG | NP_003602.1:p.Ser586Metfs | NC_000023.10:g.13778336delG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1821delG (p.Ile608Serfs) | 8481 | OFD1 | Pathogenic | 312262885 | RCV000033985; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778400 | 13778400 | NM_003611.2:c.1821delG | NP_003602.1:p.Ile608Serfs | NC_000023.10:g.13778400delG | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs) | 8481 | OFD1 | Pathogenic | 312262886 | RCV000012297; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778466 | 13778467 | NM_003611.2:c.1887_1888insAT | NP_003602.1:p.Asn630Ilefs | NC_000023.10:g.13778466_13778467insAT | OMIM Allelic Variant:300170.0005 | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1923G>A (p.Glu641=) | 8481 | OFD1 | Benign;Likely benign | 145300245 | RCV000033987; RCV000080341; RCV000206456; | N | MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN169374 | X | 13778502 | 13778502 | NM_003611.2:c.1923G>A | NP_003602.1:p.Glu641= | NC_000023.10:g.13778502G>A | - | C0431399 213300 Familial aplasia of the vermis; CN169374 not specified; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.1979_1980delCT (p.Ser660Cysfs) | 8481 | OFD1 | Pathogenic | 312262887 | RCV000033988; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778558 | 13778559 | NM_003611.2:c.1979_1980delCT | NP_003602.1:p.Ser660Cysfs | NC_000023.10:g.13778558_13778559delCT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2044dupA (p.Ile682Asnfs) | 8481 | OFD1 | Pathogenic | 312262888 | RCV000033989; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778623 | 13778623 | NM_003611.2:c.2044dupA | NP_003602.1:p.Ile682Asnfs | NC_000023.10:g.13778623dupA | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2056delT (p.Ser686Profs) | 8481 | OFD1 | Pathogenic | 312262889 | RCV000033990; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778635 | 13778635 | NM_003611.2:c.2056delT | NP_003602.1:p.Ser686Profs | NC_000023.10:g.13778635delT | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2123_2126dupAAGA (p.Asn711Lysfs) | 8481 | OFD1 | Pathogenic | 312262890 | RCV000033991; RCV000012299; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C1846175,OMIM:300209,ORPHA:79022 | X | 13778702 | 13778705 | NM_003611.2:c.2123_2126dupAAGA | NP_003602.1:p.Asn711Lysfs | NC_000023.10:g.13778702_13778705dupAAGA | OMIM Allelic Variant:300170.0007 | C1510460 311200 Oral-facial-digital syndrome; C1846175 300209 Simpson-Golabi-Behmel syndrome, type 2 | | |
NM_003611.2(OFD1):c.2176delC (p.Arg726Alafs) | 8481 | OFD1 | Pathogenic | 312262891 | RCV000033992; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13778755 | 13778755 | NM_003611.2:c.2176delC | NP_003602.1:p.Arg726Alafs | NC_000023.10:g.13778755delC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2261-1G>T | 8481 | OFD1 | Pathogenic | 312262892 | RCV000033995; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13779203 | 13779203 | NM_003611.2:c.2261-1G>T | | NC_000023.10:g.13779203G>T | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2261-?_2387+?del | 8481 | OFD1 | Pathogenic | -1 | RCV000033996; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13779204 | 13779330 | NM_003611.2:c.2261-?_2387+?del | | | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2349delC (p.Ile784Serfs) | 8481 | OFD1 | Pathogenic | 312262893 | RCV000033997; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006 | X | 13779292 | 13779292 | NM_003611.2:c.2349delC | NP_003602.1:p.Ile784Serfs | NC_000023.10:g.13779292delC | - | C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2376G>A (p.Glu792=) | 8481 | OFD1 | Benign | 183241931 | RCV000146983; RCV000205304; | N | MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN169374 | X | 13779319 | 13779319 | NM_003611.2:c.2376G>A | NP_003602.1:p.Glu792= | NC_000023.10:g.13779319G>A | - | C0431399 213300 Familial aplasia of the vermis; CN169374 not specified; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2767delG (p.Glu923Lysfs) | 8481 | OFD1 | Pathogenic | 312262894 | RCV000034004; RCV000012301; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C2749019,OMIM:300804 | X | 13786182 | 13786182 | NM_003611.2:c.2767delG | NP_003602.1:p.Glu923Lysfs | NC_000023.10:g.13786182delG | OMIM Allelic Variant:300170.0009 | C2749019 300804 Joubert syndrome 10; C1510460 311200 Oral-facial-digital syndrome | | |
NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs) | 8481 | OFD1 | Pathogenic | 312262895 | RCV000034005; RCV000012300; | N | MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C2749019,OMIM:300804 | X | 13786256 | 13786262 | NM_003611.2:c.2841_2847delAAAAGAC | NP_003602.1:p.Lys948Asnfs | NC_000023.10:g.13786256_13786262delAAAAGAC | OMIM Allelic Variant:300170.0008 | C2749019 300804 Joubert syndrome 10; C1510460 311200 Oral-facial-digital syndrome | | |