"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573394	NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn)	SLC12A3 (H69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 505768	NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	SLC12A3 (E121D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2682419	NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)	SLC12A3 (S125fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 2577274	NM_001126108.2(SLC12A3):c.509T>A (p.Leu170Gln)	SLC12A3 (L169Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506183	NM_001126108.2(SLC12A3):c.581C>T (p.Thr194Ile)	SLC12A3 (T193I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682241	NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)	SLC12A3 (R260C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577273	NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly)	SLC12A3	Indel (inframe_indel)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 2209173	NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)	SLC12A3 (V264M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 209191	NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	SLC12A3 (L272P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1454113	NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)	SLC12A3 (G316A +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1382757	NM_001126108.2(SLC12A3):c.964+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 498813	NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	SLC12A3 (A322V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2429144	NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)	SLC12A3 (P348A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2577275	NM_001126108.2(SLC12A3):c.1160T>C (p.Leu387Pro)	SLC12A3 (L386P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 646369	NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter)	SLC12A3 (C396* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992415	NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser)	SLC12A3 (C415S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328532	NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr)	SLC12A3 (A419T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +3 more	GUncertain significance
Select item 1458231	NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)	SLC12A3 (C421Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2506184	NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)	SLC12A3 (T457M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506182	NM_001126108.2(SLC12A3):c.1568C>T (p.Ala523Val)	SLC12A3 (A522V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 886416	NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val)	SLC12A3 (A569V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 8595	NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)	SLC12A3 (L623P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 8588	NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	SLC12A3 (R655H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 860860	NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met)	SLC12A3 (V677M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 735078	NM_001126108.2(SLC12A3):c.2285+8G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 2141061	NM_001126108.2(SLC12A3):c.2286-18C>T	SLC12A3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1942017	NM_001126108.2(SLC12A3):c.2369-2A>G	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1458237	NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)	SLC12A3 (R861H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 936104	NM_001126108.2(SLC12A3):c.2633+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1152357	NM_001126108.2(SLC12A3):c.2720+8C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2200213	NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)	SLC12A3 (R933W +3 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 3068861	NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)	SLC12A3 (W938fs +3 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 319920	NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile)	SLC12A3 (V983I +2 more)	Single nucleotide variant (missense variant)	SLC12A3-related condition +3 more	GUncertain significance
Select item 448395	NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	LOC126862361, SLC12A3 (C994Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804676	NC_000016.9:g.(?_56899118)_56906295del	SLC12A3	Deletion	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1723433	NM_000339.2:c.(?_-30)_885del	SLC12A3	Deletion	Familial hypokalemia-hypomagnesemia	GLikely pathogenic

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Items: 36