ClinVar for MedGen (Select 167236) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064131	NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter)	GJA1 (Y230*)	Single nucleotide variant (nonsense)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 2628335	NM_000165.5(GJA1):c.602C>T (p.Ser201Phe)	GJA1 (S201F)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 1693303	NM_000165.5(GJA1):c.860A>G (p.Lys287Arg)	GJA1 (K287R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia +1 more	GUncertain significance
Select item 1330230	NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del)	GJA1	Deletion (inframe_deletion)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1320166	NM_000165.5(GJA1):c.416T>A (p.Ile139Asn)	GJA1 (I139N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1206770	NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile)	GJA1 (L347I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1184546	NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr)	GJA1 (S201Y)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1050474	NM_000165.5(GJA1):c.932del (p.Ala311fs)	GJA1 (A311fs)	Deletion (frameshift variant)	Hypoplastic left heart syndrome 1 +7 more	GUncertain significance
Select item 1028586	NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)	GJA1 (E48K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1028585	NM_000165.5(GJA1):c.1111G>A (p.Ala371Thr)	GJA1 (A371T)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GUncertain significance
Select item 989202	NM_000165.5(GJA1):c.93T>G (p.Ile31Met)	GJA1 (I31M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 907650	NM_000165.5(GJA1):c.*521G>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Oculodentodigital dysplasia +2 more	GUncertain significance
Select item 907524	NM_000165.5(GJA1):c.764G>A (p.Ser255Asn)	GJA1 (S255N)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 907523	NM_000165.5(GJA1):c.717G>C (p.Arg239=)	GJA1	Single nucleotide variant (synonymous variant)	Syndactyly type 3 +4 more	GConflicting classifications of pathogenicity
Select item 906698	NM_000165.5(GJA1):c.*992G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 906697	NM_000165.5(GJA1):c.*926A>T	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 906627	NM_000165.5(GJA1):c.*498G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Oculodentodigital dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 906626	NM_000165.5(GJA1):c.*444A>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Syndactyly type 3 +2 more	GUncertain significance
Select item 906512	NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)	GJA1 (D238Y)	Single nucleotide variant (missense variant)	Syndactyly type 3 +2 more	GUncertain significance
Select item 906469	NM_000165.5(GJA1):c.-87C>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 905181	NM_000165.5(GJA1):c.*1334T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 905180	NM_000165.5(GJA1):c.*1252A>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 905121	NM_000165.5(GJA1):c.*888C>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 905120	NM_000165.5(GJA1):c.*832C>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 905042	NM_000165.5(GJA1):c.*301C>T	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904976	NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)	GJA1 (C298Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 904919	NM_000165.5(GJA1):c.706G>A (p.Val236Ile)	GJA1 (V236I)	Single nucleotide variant (missense variant)	Syndactyly type 3 +4 more	GConflicting classifications of pathogenicity
Select item 904918	NM_000165.5(GJA1):c.483C>G (p.Phe161Leu)	GJA1 (F161L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904853	NM_000165.5(GJA1):c.-197T>G	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904387	NM_000165.5(GJA1):c.*1204A>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904386	NM_000165.5(GJA1):c.*1143T>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904321	NM_000165.5(GJA1):c.*750G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904251	NM_000165.5(GJA1):c.*212A>T	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 904196	NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)	GJA1 (S296P)	Single nucleotide variant (missense variant)	Syndactyly type 3 +2 more	GUncertain significance
Select item 904141	NM_000165.5(GJA1):c.129A>G (p.Ser43=)	GJA1	Single nucleotide variant (synonymous variant)	Syndactyly type 3 +2 more	GUncertain significance
Select item 802259	NM_000165.5(GJA1):c.565del (p.Arg189fs)	GJA1 (R189fs)	Deletion (frameshift variant)	Oculodentodigital dysplasia +1 more	GUncertain significance
Select item 697127	NM_000165.5(GJA1):c.612G>A (p.Thr204=)	GJA1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome 1 +3 more	GBenign/Likely benign
Select item 580391	NM_000165.5(GJA1):c.814T>C (p.Ser272Pro)	GJA1 (S272P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 576300	NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del)	GJA1	Deletion (inframe_deletion)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 470216	NM_000165.5(GJA1):c.413G>A (p.Gly138Asp)	GJA1 (G138D)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 435325	NM_000165.5(GJA1):c.646G>T (p.Val216Leu)	GJA1 (V216L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 435324	NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)	GJA1 (R148Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 435323	NM_000165.5(GJA1):c.119C>T (p.Ala40Val)	GJA1 (A40V)	Single nucleotide variant (missense variant)	Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more	GPathogenic
Select item 372744	NM_000165.5(GJA1):c.605G>A (p.Arg202His)	GJA1 (R202H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369513	NM_000165.5(GJA1):c.*1733C>T	GJA1	Single nucleotide variant	Syndactyly +2 more	GBenign
Select item 355186	NM_000165.5(GJA1):c.*1322A>T	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GBenign
Select item 355185	NM_000165.5(GJA1):c.*1101T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355184	NM_000165.5(GJA1):c.*1077T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355183	NM_000165.5(GJA1):c.*1043T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Syndactyly type 3 +2 more	GUncertain significance
Select item 355182	NM_000165.5(GJA1):c.1018_1021del	GJA1	Deletion (3 prime UTR variant)	Oculodentodigital dysplasia +2 more	GLikely benign
Select item 355181	NM_000165.5(GJA1):c.1020_1021del	GJA1	Deletion (3 prime UTR variant)	Syndactyly +2 more	GUncertain significance
Select item 355180	NM_000165.5(GJA1):c.*968T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GBenign
Select item 355179	NM_000165.5(GJA1):c.916_918del	GJA1	Deletion (3 prime UTR variant)	Syndactyly +2 more	GUncertain significance
Select item 355178	NM_000165.5(GJA1):c.*773del	GJA1	Deletion (3 prime UTR variant)	Syndactyly +2 more	GUncertain significance
Select item 355177	NM_000165.5(GJA1):c.772_773dup	GJA1	Duplication (3 prime UTR variant)	Syndactyly +2 more	GLikely benign
Select item 355176	NM_000165.5(GJA1):c.*773dup	GJA1	Duplication (3 prime UTR variant)	Syndactyly +2 more	GBenign
Select item 355175	NM_000165.5(GJA1):c.*694T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355174	NM_000165.5(GJA1):c.*635C>T	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355173	NM_000165.5(GJA1):c.*538G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355172	NM_000165.5(GJA1):c.*529C>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355171	NM_000165.5(GJA1):c.*285A>T	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355170	NM_000165.5(GJA1):c.*243A>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 355169	NM_000165.5(GJA1):c.*214G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355168	NM_000165.5(GJA1):c.*191G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355167	NM_000165.5(GJA1):c.*173G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +3 more	GBenign
Select item 355166	NM_000165.5(GJA1):c.*163G>A	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355165	NM_000165.5(GJA1):c.*119T>C	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 355164	NM_000165.5(GJA1):c.*47A>G	GJA1	Single nucleotide variant (3 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355163	NM_000165.5(GJA1):c.1128G>A (p.Arg376=)	GJA1	Single nucleotide variant (synonymous variant)	Syndactyly type 3 +4 more	GConflicting classifications of pathogenicity
Select item 355162	NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)	GJA1 (D339N)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome 1 +3 more	GUncertain significance
Select item 355161	NM_000165.5(GJA1):c.837G>A (p.Ser279=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive +4 more	GBenign/Likely benign
Select item 355160	NM_000165.5(GJA1):c.456G>A (p.Leu152=)	GJA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 355159	NM_000165.5(GJA1):c.270C>G (p.Leu90=)	GJA1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355158	NM_000165.5(GJA1):c.-16-12T>A	GJA1	Single nucleotide variant (intron variant)	Hypoplastic left heart syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 355157	NM_000165.5(GJA1):c.-67C>G	GJA1	Single nucleotide variant (5 prime UTR variant)	Syndactyly type 3 +3 more	GConflicting classifications of pathogenicity
Select item 355156	NM_000165.5(GJA1):c.-135C>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 355155	NM_000165.5(GJA1):c.-161G>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355154	NM_000165.5(GJA1):c.-188G>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 255409	NM_000165.5(GJA1):c.*3dup	GJA1	Duplication (3 prime UTR variant)	not specified +5 more	GBenign
Select item 137483	NM_000165.5(GJA1):c.758C>T (p.Ala253Val)	GJA1 (A253V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 137482	NM_000165.5(GJA1):c.717G>A (p.Arg239=)	GJA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 88726	NM_000165.5(GJA1):c.617A>G (p.Lys206Arg)	GJA1 (K206R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 29668	NM_000165.5(GJA1):c.31C>T (p.Leu11Phe)	GJA1 (L11F)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16997	NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)	GJA1 (R76S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 16994	NM_000165.5(GJA1):c.689_690del (p.Tyr230fs)	GJA1 (Y230fs)	Deletion (frameshift variant)	GJA1-related condition	GPathogenic
Select item 16993	NM_000165.5(GJA1):c.32T>C (p.Leu11Pro)	GJA1 (L11P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16992	NM_000165.5(GJA1):c.581A>C (p.His194Pro)	GJA1 (H194P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16991	NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)	GJA1 (R376Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 16989	NM_000165.5(GJA1):c.780_781del (p.Cys260fs)	GJA1 (C260fs)	Microsatellite (frameshift variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16988	NM_000165.5(GJA1):c.286G>A (p.Val96Met)	GJA1 (V96M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16986	NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)	GJA1	Duplication (inframe_insertion)	Oculodentodigital dysplasia	GPathogenic
Select item 16985	NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)	GJA1 (G22E)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 16984	NM_000165.5(GJA1):c.61G>A (p.Gly21Arg)	GJA1 (G21R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16983	NM_000165.5(GJA1):c.52T>C (p.Ser18Pro)	GJA1 (S18P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16982	NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser)	GJA1 (Y17S)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic

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Items: 95