"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC12A1"[ - ClinVar

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Items: 26

	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 445491	NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)	SLC12A1 (R116H)	Single nucleotide variant (missense variant)	Bartter disease type 1 +3 more	GConflicting classifications of pathogenicity
Select item 316254	NM_000338.3(SLC12A1):c.381C>T (p.Asn127=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 785487	NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr)	SLC12A1 (A139T)	Single nucleotide variant (missense variant)	SLC12A1-related disorder +2 more	GBenign
Select item 316255	NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr)	SLC12A1 (A149T)	Single nucleotide variant (missense variant)	SLC12A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2636279	NM_000338.3(SLC12A1):c.590_599del (p.Phe197fs)	SLC12A1 (F197fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2981904	NM_000338.3(SLC12A1):c.768C>T (p.Phe256=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related disorder +1 more	GLikely benign
Select item 2633870	NM_000338.3(SLC12A1):c.785T>C (p.Leu262Pro)	SLC12A1 (L262P)	Single nucleotide variant (missense variant)	SLC12A1-related disorder	GUncertain significance
Select item 2633820	NM_000338.3(SLC12A1):c.800_814del (p.Ala267_Ala271del)	SLC12A1	Deletion (inframe_deletion)	SLC12A1-related disorder	GUncertain significance
Select item 2186735	NM_000338.3(SLC12A1):c.876G>A (p.Ser292=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 255875	NM_000338.3(SLC12A1):c.993G>A (p.Leu331=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633995	NM_000338.3(SLC12A1):c.1300G>A (p.Gly434Arg)	SLC12A1 (G434R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 255872	NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +2 more	GBenign
Select item 1953353	NM_000338.3(SLC12A1):c.1764T>C (p.His588=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 8754	NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)	LOC126862123, SLC12A1 (W625*)	Single nucleotide variant (nonsense)	SLC12A1-related disorder +1 more	GPathogenic
Select item 255873	NM_000338.3(SLC12A1):c.2043-9dup	SLC12A1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 778098	NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 316264	NM_000338.3(SLC12A1):c.2106C>T (p.His702=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 714653	NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related disorder +2 more	GBenign/Likely benign
Select item 316268	NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)	SLC12A1 (A752V)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 2891743	NM_000338.3(SLC12A1):c.2630-8C>T	SLC12A1	Single nucleotide variant (intron variant)	SLC12A1-related disorder +1 more	GLikely benign
Select item 316273	NM_000338.3(SLC12A1):c.2630-7G>A	SLC12A1	Single nucleotide variant (intron variant)	SLC12A1-related disorder +2 more	GBenign
Select item 255874	NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)	SLC12A1 (V958A)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GBenign/Likely benign
Select item 316278	NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2634791	NM_000338.3(SLC12A1):c.3130C>T (p.Gln1044Ter)	SLC12A1 (Q1044*)	Single nucleotide variant (nonsense)	SLC12A1-related disorder	GLikely pathogenic
Select item 3047431	NM_000338.3(SLC12A1):c.*5T>G	SLC12A1	Single nucleotide variant (3 prime UTR variant)	SLC12A1-related disorder	GLikely benign

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Items: 26