SLC32A1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2253332	NM_080552.3(SLC32A1):c.54C>G (p.Asn18Lys)	SLC32A1 (N18K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213580	NM_080552.3(SLC32A1):c.64G>A (p.Ala22Thr)	SLC32A1 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164282	NM_080552.3(SLC32A1):c.77G>T (p.Gly26Val)	SLC32A1 (G26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164278	NM_080552.3(SLC32A1):c.116A>G (p.Glu39Gly)	SLC32A1 (E39G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 918049	NM_080552.3(SLC32A1):c.127G>T (p.Gly43Cys)	SLC32A1 (G43C)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus	GUncertain significance
Select item 2974419	NM_080552.3(SLC32A1):c.209G>A (p.Cys70Tyr)	SLC32A1 (C70Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319533	NM_080552.3(SLC32A1):c.216C>G (p.Asp72Glu)	SLC32A1 (D72E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398209	NM_080552.3(SLC32A1):c.223G>T (p.Ala75Ser)	SLC32A1 (A75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329947	NM_080552.3(SLC32A1):c.271G>A (p.Ala91Thr)	SLC32A1 (A91T)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 2126895	NM_080552.3(SLC32A1):c.292T>C (p.Ser98Pro)	SLC32A1 (S98P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2215603	NM_080552.3(SLC32A1):c.296A>G (p.Lys99Arg)	SLC32A1 (K99R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608613	NM_080552.3(SLC32A1):c.302A>T (p.Gln101Leu)	SLC32A1 (Q101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164280	NM_080552.3(SLC32A1):c.392G>T (p.Gly131Val)	SLC32A1 (G131V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602255	NM_080552.3(SLC32A1):c.560T>A (p.Val187Glu)	SLC32A1 (V187E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495548	NM_080552.3(SLC32A1):c.580T>A (p.Cys194Ser)	SLC32A1 (C194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484919	NM_080552.3(SLC32A1):c.599C>A (p.Thr200Lys)	SLC32A1 (T200K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465498	NM_080552.3(SLC32A1):c.673A>T (p.Ser225Cys)	SLC32A1 (S225C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164281	NM_080552.3(SLC32A1):c.716C>T (p.Ser239Leu)	SLC32A1 (S239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329948	NM_080552.3(SLC32A1):c.787G>A (p.Val263Met)	SLC32A1 (V263M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 12 +2 more	GConflicting classifications of pathogenicity
Select item 918045	NM_080552.3(SLC32A1):c.788T>C (p.Val263Ala)	SLC32A1 (V263A)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus	GUncertain significance
Select item 3064670	NM_080552.3(SLC32A1):c.806T>A (p.Leu269Gln)	SLC32A1 (L269Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 114	GPathogenic
Select item 1329949	NM_080552.3(SLC32A1):c.806T>C (p.Leu269Pro)	SLC32A1 (L269P)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 2383343	NM_080552.3(SLC32A1):c.825C>G (p.Phe275Leu)	SLC32A1 (F275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3339140	NM_080552.3(SLC32A1):c.855T>C (p.Cys285=)	SLC32A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1329950	NM_080552.3(SLC32A1):c.965T>G (p.Phe322Cys)	SLC32A1 (F322C)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 918043	NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr)	SLC32A1 (M330T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus +1 more	GPathogenic/Likely pathogenic
Select item 3164277	NM_080552.3(SLC32A1):c.1004A>C (p.Glu335Ala)	SLC32A1 (E335A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319534	NM_080552.3(SLC32A1):c.1010A>G (p.His337Arg)	SLC32A1 (H337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319535	NM_080552.3(SLC32A1):c.1015A>G (p.Met339Val)	SLC32A1 (M339V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2900759	NM_080552.3(SLC32A1):c.1045G>A (p.Val349Met)	SLC32A1 (V349M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500302	NM_080552.3(SLC32A1):c.1121T>C (p.Leu374Pro)	SLC32A1 (L374P)	Single nucleotide variant (missense variant)	Mild global developmental delay +2 more	GUncertain significance
Select item 3239224	NM_080552.3(SLC32A1):c.1237G>T (p.Gly413Cys)	SLC32A1 (G413C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2256606	NM_080552.3(SLC32A1):c.1243C>A (p.Arg415Ser)	SLC32A1 (R415S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780606	NM_080552.3(SLC32A1):c.1267A>G (p.Ser423Gly)	SLC32A1 (S423G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652322	NM_080552.3(SLC32A1):c.1280G>T (p.Arg427Leu)	SLC32A1 (R427L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164279	NM_080552.3(SLC32A1):c.1289C>T (p.Ser430Phe)	SLC32A1 (S430F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 918048	NM_080552.3(SLC32A1):c.1333C>T (p.Leu445Phe)	SLC32A1 (L445F)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus	GUncertain significance
Select item 918046	NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp)	SLC32A1 (G461D)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus +1 more	GPathogenic/Likely pathogenic
Select item 918044	NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg)	SLC32A1 (T464R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 918047	NM_080552.3(SLC32A1):c.1393G>A (p.Gly465Ser)	SLC32A1 (G465S)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus	GUncertain significance
Select item 918042	NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro)	SLC32A1 (L468P)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus +1 more	GPathogenic/Likely pathogenic
Select item 2446539	NM_080552.3(SLC32A1):c.1435C>A (p.Arg479Ser)	SLC32A1 (R479S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366899	NM_080552.3(SLC32A1):c.1447C>T (p.Arg483Cys)	SLC32A1 (R483C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550358	NM_080552.3(SLC32A1):c.1548C>G (p.Ile516Met)	SLC32A1 (I516M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248361	NC_000020.10:g.(?_37060620)_(37581163_?)dup	ACTR5, ADIG +6 more	Duplication	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 564625	GRCh37/hg19 20q11.23-12(chr20:37327665-37675011)x3	SLC32A1, FAM83D +3 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 52