Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001083962.1(TCF4):c.1965dupC (p.Gly656Argfs) | 6925 | TCF4 | Likely pathogenic;Pathogenic | 797046035 | RCV000192539; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52895507 | 52895507 | NM_001083962.1:c.1965dupC | NP_001077431.1:p.Gly656Argfs | NC_000018.9:g.52895507dupG | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1871A>C (p.Gln624Pro) | 6925 | TCF4 | Likely pathogenic | 797046034 | RCV000193169; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52896086 | 52896086 | NM_001083962.1:c.1871A>C | NP_001077431.1:p.Gln624Pro | NC_000018.9:g.52896086T>G | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1840G>C (p.Ala614Pro) | 6925 | TCF4 | Likely pathogenic | 587784462 | RCV000147718; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52896117 | 52896117 | NM_001083962.1:c.1840G>C | NP_001077431.1:p.Ala614Pro | NC_000018.9:g.52896117C>G | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1777_1779delCGC (p.Arg593del) | 6925 | TCF4 | Uncertain significance | 587784461 | RCV000147717; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52896178 | 52896180 | NM_001083962.1:c.1777_1779delCGC | NP_001077431.1:p.Arg593del | NC_000018.9:g.52896178_52896180delGCG | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1741G>T (p.Val581Phe) | 6925 | TCF4 | Likely pathogenic | 587784460 | RCV000147716; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52896216 | 52896216 | NM_001083962.1:c.1741G>T | NP_001077431.1:p.Val581Phe | NC_000018.9:g.52896216C>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1739G>A (p.Arg580Gln) | 6925 | TCF4 | Pathogenic | 121909121 | RCV000007796; RCV000189725; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896; MedGen:CN221809 | 18 | 52896218 | 52896218 | NM_001083962.1:c.1739G>A | NP_001077431.1:p.Arg580Gln | NC_000018.9:g.52896218C>T | OMIM Allelic Variant:602272.0002 | CN221809 not provided; C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1738C>T (p.Arg580Trp) | 6925 | TCF4 | Pathogenic | 121909120 | RCV000007795; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52896219 | 52896219 | NM_001083962.1:c.1738C>T | NP_001077431.1:p.Arg580Trp | NC_000018.9:g.52896219G>A | OMIM Allelic Variant:602272.0001 | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1733G>C (p.Arg578Pro) | 6925 | TCF4 | Pathogenic | 121909123 | RCV000007799; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52896224 | 52896224 | NM_001083962.1:c.1733G>C | NP_001077431.1:p.Arg578Pro | NC_000018.9:g.52896224C>G,NC_000018.9:g.52896224C>T | OMIM Allelic Variant:602272.0005 | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1733G>A (p.Arg578His) | 6925 | TCF4 | Pathogenic | 121909123 | RCV000079458; RCV000189738; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896; MedGen:CN221809 | 18 | 52896224 | 52896224 | NM_001083962.1:c.1733G>A | NP_001077431.1:p.Arg578His | NC_000018.9:g.52896224C>G,NC_000018.9:g.52896224C>T | HGMD:CM085734 | CN221809 not provided; C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1498G>T (p.Gly500Ter) | 6925 | TCF4 | Pathogenic | 587784459 | RCV000147715; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52899891 | 52899891 | NM_001083962.1:c.1498G>T | NP_001077431.1:p.Gly500Ter | NC_000018.9:g.52899891C>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1438C>T (p.Gln480Ter) | 6925 | TCF4 | Pathogenic | 727505396 | RCV000157067; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52901827 | 52901827 | NM_001083962.1:c.1438C>T | NP_001077431.1:p.Gln480Ter | NC_000018.9:g.52901827G>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1414delG (p.Val472Phefs) | 6925 | TCF4 | Pathogenic | 727504174 | RCV000153998; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52901851 | 52901851 | NM_001083962.1:c.1414delG | NP_001077431.1:p.Val472Phefs | NC_000018.9:g.52901851delC | HGMD:CD084989 | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1411C>T (p.Gln471Ter) | 6925 | TCF4 | Pathogenic | 797046033 | RCV000195129; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52901854 | 52901854 | NM_001083962.1:c.1411C>T | NP_001077431.1:p.Gln471Ter | NC_000018.9:g.52901854G>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1357dupA (p.Thr453Asnfs) | 6925 | TCF4 | Pathogenic | 786200992 | RCV000153999; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52901908 | 52901908 | NM_001083962.1:c.1357dupA | NP_001077431.1:p.Thr453Asnfs | NC_000018.9:g.52901908dupT | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1350G>A (p.Met450Ile) | 6925 | TCF4 | Uncertain significance | 11660217 | RCV000147713; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52921728 | 52921728 | NM_001083962.1:c.1350G>A | NP_001077431.1:p.Met450Ile | NC_000018.9:g.52921728C>T | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1153C>T (p.Arg385Ter) | 6925 | TCF4 | Pathogenic | 121909122 | RCV000007797; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52921925 | 52921925 | NM_001083962.1:c.1153C>T | NP_001077431.1:p.Arg385Ter | NC_000018.9:g.52921925G>A | OMIM Allelic Variant:602272.0003 | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1146+1G>A | 6925 | TCF4 | Pathogenic | 587784458 | RCV000147712; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52924545 | 52924545 | NM_001083962.1:c.1146+1G>A | | NC_000018.9:g.52924545C>T | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1086G>A (p.Trp362Ter) | 6925 | TCF4 | Pathogenic | 398123560 | RCV000079456; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52924606 | 52924606 | NM_001083962.1:c.1086G>A | NP_001077431.1:p.Trp362Ter | NC_000018.9:g.52924606C>T | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.1069+1G>T | 6925 | TCF4 | Pathogenic | 797045072 | RCV000191133; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52927179 | 52927179 | NM_001083962.1:c.1069+1G>T | | NC_000018.9:g.52927179C>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.991-2A>G | 6925 | TCF4 | Pathogenic | 587784470 | RCV000147731; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52927260 | 52927260 | NM_001083962.1:c.991-2A>G | | NC_000018.9:g.52927260T>C | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.990G>A (p.Ser330=) | 6925 | TCF4 | Likely pathogenic | 587784469 | RCV000147730; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52928697 | 52928697 | NM_001083962.1:c.990G>A | NP_001077431.1:p.Ser330= | NC_000018.9:g.52928697C>T | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_003199.2(TCF4):c.978delAinsGG (p.Ala327Glyfs) | 6925 | TCF4 | Pathogenic | 863223404 | RCV000194458; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52928709 | 52928710 | NM_003199.2:c.978delAinsGG | NP_003190.1:p.Ala327Glyfs | NC_000018.9:g.52928709delTinsCC | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.968C>T (p.Ala323Val) | 6925 | TCF4 | Pathogenic | 797045003 | RCV000190500; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52928719 | 52928719 | NM_001083962.1:c.968C>T | NP_001077431.1:p.Ala323Val | NC_000018.9:g.52928719G>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.850C>T (p.His284Tyr) | 6925 | TCF4 | Uncertain significance | 869312695 | RCV000209937; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52937134 | 52937134 | NM_001083962.1:c.850C>T | NP_001077431.1:p.His284Tyr | NC_000018.9:g.52937134G>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.791delG (p.Ser264Thrfs) | 6925 | TCF4 | Pathogenic | 587784468 | RCV000147728; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52937193 | 52937193 | NM_001083962.1:c.791delG | NP_001077431.1:p.Ser264Thrfs | NC_000018.9:g.52937193delC | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.748C>T (p.Gln250Ter) | 6925 | TCF4 | Pathogenic | 727504175 | RCV000154000; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52942891 | 52942891 | NM_001083962.1:c.748C>T | NP_001077431.1:p.Gln250Ter | NC_000018.9:g.52942891G>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.656-1G>C | 6925 | TCF4 | Pathogenic | 587784466 | RCV000147725; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52942984 | 52942984 | NM_001083962.1:c.656-1G>C | | NC_000018.9:g.52942984C>G | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.655+2_655+3insGT | 6925 | TCF4 | Pathogenic | 797046036 | RCV000194246; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52946779 | 52946780 | NM_001083962.1:c.655+2_655+3insGT | | NC_000018.9:g.52946779_52946780insAC | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.655+1G>A | 6925 | TCF4 | Pathogenic | 587784465 | RCV000147724; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52946781 | 52946781 | NM_001083962.1:c.655+1G>A | | NC_000018.9:g.52946781C>A,NC_000018.9:g.52946781C>T | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.655+1G>T | 6925 | TCF4 | Pathogenic | 587784465 | RCV000154001; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52946781 | 52946781 | NM_001083962.1:c.655+1G>T | | NC_000018.9:g.52946781C>A,NC_000018.9:g.52946781C>T | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.550-2A>G | 6925 | TCF4 | Likely pathogenic | 863224934 | RCV000198247; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 52946889 | 52946889 | NM_001083962.1:c.550-2A>G | | NC_000018.9:g.52946889T>C | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.514_517delAAAG (p.Lys172Phefs) | 6925 | TCF4 | Pathogenic | 398123561 | RCV000079461; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 53017622 | 53017625 | NM_001083962.1:c.514_517delAAAG | NP_001077431.1:p.Lys172Phefs | NC_000018.9:g.53017622_53017625delCTTT | HGMD:CD120293 | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.469C>T (p.Arg157Ter) | 6925 | TCF4 | Pathogenic | 587784464 | RCV000147723; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 53018135 | 53018135 | NM_001083962.1:c.469C>T | NP_001077431.1:p.Arg157Ter | NC_000018.9:g.53018135G>A | - | C1970431 610954 Pitt-Hopkins syndrome | | |
NM_001083962.1(TCF4):c.415delC (p.Leu139Phefs) | 6925 | TCF4 | Pathogenic | 587784463 | RCV000147722; | N | MedGen:C1970431,OMIM:610954,ORPHA:2896 | 18 | 53018189 | 53018189 | NM_001083962.1:c.415delC | NP_001077431.1:p.Leu139Phefs | NC_000018.9:g.53018189delG | - | C1970431 610954 Pitt-Hopkins syndrome | | |