"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319887	NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255892	NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 1285185	NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)	SLC12A3 (W171R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 504886	NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)	SLC12A3 (A264G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 209191	NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	SLC12A3 (L272P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1067766	NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	SLC12A3 (R320W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 319902	NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319903	NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	SLC12A3 (G463R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 255879	NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1280046	NM_001126108.2(SLC12A3):c.1444-17G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255880	NM_001126108.2(SLC12A3):c.1670-8T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255881	NM_001126108.2(SLC12A3):c.1825+9C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255883	NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 417863	NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	SLC12A3 (P643L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 255884	NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255885	NM_001126108.2(SLC12A3):c.2179-8C>T	SLC12A3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 403447	NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)	SLC12A3 (A728T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 8584	NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	SLC12A3 (L850P +2 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 255887	NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255888	NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln)	SLC12A3 (R913Q +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255889	NM_001126108.2(SLC12A3):c.2721-13T>C	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 319917	NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys)	SLC12A3 (R928C +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign
Select item 372504	NM_001126108.2(SLC12A3):c.2856+1G>T	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255890	NM_001126108.2(SLC12A3):c.2857-17G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 777269	NM_001126108.2(SLC12A3):c.2857-6G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 255891	NM_001126108.2(SLC12A3):c.2924+13C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 586605	NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	LOC126862361, SLC12A3 (G989R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 28