"Ambry Genetics"[submitter] AND "SLC12A1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2387586	NM_000338.3(SLC12A1):c.50A>G (p.Asn17Ser)	SLC12A1 (N17S)	Single nucleotide variant (missense variant)	SLC12A1-related condition +1 more	GUncertain significance
Select item 1979319	NM_000338.3(SLC12A1):c.88C>G (p.His30Asp)	SLC12A1, CTXN2-AS1 (H30D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2220240	NM_000338.3(SLC12A1):c.170G>C (p.Arg57Thr)	CTXN2-AS1, SLC12A1 (R57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360487	NM_000338.3(SLC12A1):c.251C>G (p.Ala84Gly)	SLC12A1, CTXN2-AS1 (A84G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 805464	NM_000338.3(SLC12A1):c.262G>A (p.Ala88Thr)	CTXN2-AS1, SLC12A1 (A88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2381542	NM_000338.3(SLC12A1):c.325G>A (p.Val109Ile)	CTXN2-AS1, SLC12A1 (V109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494174	NM_000338.3(SLC12A1):c.377T>C (p.Val126Ala)	SLC12A1 (V126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241917	NM_000338.3(SLC12A1):c.397G>A (p.Glu133Lys)	SLC12A1, CTXN2-AS1 (E133K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186515	NM_000338.3(SLC12A1):c.406G>A (p.Glu136Lys)	SLC12A1 (E136K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2240525	NM_000338.3(SLC12A1):c.408_410del (p.Gln137del)	SLC12A1, CTXN2-AS1 (Q137del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2234347	NM_000338.3(SLC12A1):c.483T>G (p.Asp161Glu)	CTXN2-AS1, SLC12A1 (D161E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527425	NM_000338.3(SLC12A1):c.506A>T (p.Asp169Val)	SLC12A1 (D169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994769	NM_000338.3(SLC12A1):c.513A>C (p.Gln171His)	SLC12A1 (Q171H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2207839	NM_000338.3(SLC12A1):c.517G>A (p.Gly173Ser)	SLC12A1, CTXN2-AS1 (G173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383615	NM_000338.3(SLC12A1):c.763G>A (p.Glu255Lys)	SLC12A1, CTXN2-AS1 (E255K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230832	NM_000338.3(SLC12A1):c.766T>C (p.Phe256Leu)	CTXN2-AS1, SLC12A1 (F256L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606264	NM_000338.3(SLC12A1):c.815T>C (p.Val272Ala)	SLC12A1 (V272A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923313	NM_000338.3(SLC12A1):c.922A>T (p.Thr308Ser)	SLC12A1 (T308S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2249514	NM_000338.3(SLC12A1):c.950T>C (p.Val317Ala)	SLC12A1 (V317A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467324	NM_000338.3(SLC12A1):c.1099G>A (p.Ala367Thr)	SLC12A1 (A367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1036256	NM_000338.3(SLC12A1):c.1118G>A (p.Arg373His)	SLC12A1 (R373H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1050964	NM_000338.3(SLC12A1):c.1426C>G (p.Gln476Glu)	SLC12A1 (Q476E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2206866	NM_000338.3(SLC12A1):c.1528G>A (p.Ala510Thr)	SLC12A1 (A510T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704494	NM_000338.3(SLC12A1):c.1685-2A>G	SLC12A1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2376889	NM_000338.3(SLC12A1):c.1799C>T (p.Ala600Val)	LOC126862123, SLC12A1 (A600V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245147	NM_000338.3(SLC12A1):c.1892C>G (p.Thr631Ser)	LOC126862123, SLC12A1 (T631S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381926	NM_000338.3(SLC12A1):c.1894T>C (p.Tyr632His)	LOC126862123, SLC12A1 (Y632H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355273	NM_000338.3(SLC12A1):c.2006A>C (p.Glu669Ala)	SLC12A1 (E669A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470089	NM_000338.3(SLC12A1):c.2057T>C (p.Val686Ala)	SLC12A1 (V686A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412995	NM_000338.3(SLC12A1):c.2089C>T (p.Leu697Phe)	SLC12A1 (L697F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2244594	NM_000338.3(SLC12A1):c.2143G>A (p.Glu715Lys)	SLC12A1 (E715K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277100	NM_000338.3(SLC12A1):c.2154G>C (p.Val718=)	SLC12A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 1471343	NM_000338.3(SLC12A1):c.2161C>G (p.Arg721Gly)	SLC12A1 (R721G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887332	NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr)	SLC12A1 (A737T)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2248252	NM_000338.3(SLC12A1):c.2264G>C (p.Cys755Ser)	SLC12A1 (C755S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297226	NM_000338.3(SLC12A1):c.2333T>C (p.Val778Ala)	SLC12A1 (V778A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294753	NM_000338.3(SLC12A1):c.2346G>T (p.Lys782Asn)	SLC12A1 (K782N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 887520	NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly)	SLC12A1 (D802G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2482224	NM_000338.3(SLC12A1):c.2408C>T (p.Ala803Val)	SLC12A1 (A803V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473170	NM_000338.3(SLC12A1):c.2428G>A (p.Val810Met)	SLC12A1 (V810M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603361	NM_000338.3(SLC12A1):c.2456T>C (p.Phe819Ser)	SLC12A1 (F819S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2490101	NM_000338.3(SLC12A1):c.2513G>A (p.Arg838Lys)	SLC12A1 (R838K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255987	NM_000338.3(SLC12A1):c.2541T>A (p.Asp847Glu)	SLC12A1 (D847E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154674	NM_000338.3(SLC12A1):c.2570T>A (p.Ile857Asn)	SLC12A1 (I857N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2175895	NM_000338.3(SLC12A1):c.2643C>A (p.Asn881Lys)	SLC12A1 (N881K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884370	NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr)	SLC12A1 (R942T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2302963	NM_000338.3(SLC12A1):c.2846T>C (p.Ile949Thr)	SLC12A1 (I949T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301206	NM_000338.3(SLC12A1):c.2878G>T (p.Ala960Ser)	SLC12A1 (A960S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1718980	NM_000338.3(SLC12A1):c.2944A>G (p.Arg982Gly)	SLC12A1 (R982G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2284043	NM_000338.3(SLC12A1):c.3013A>G (p.Lys1005Glu)	SLC12A1 (K1005E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917352	NM_000338.3(SLC12A1):c.3065C>T (p.Thr1022Ile)	SLC12A1 (T1022I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2541852	NM_000338.3(SLC12A1):c.3104G>A (p.Arg1035His)	SLC12A1 (R1035H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316281	NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln)	SLC12A1 (R1038Q)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53