ClinVar for PubMed (Select 11168953) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2694567	NM_001126108.2(SLC12A3):c.1000C>G (p.Arg334Gly)	SLC12A3 (R334G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137822	NM_001126108.2(SLC12A3):c.1196G>C (p.Arg399Pro)	SLC12A3 (R398P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2059379	NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)	SLC12A3 (R334W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1993610	NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp)	SLC12A3 (S177W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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
Select item 1706235	NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)	SLC12A3 (R333Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1505020	NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro)	SLC12A3 (R208P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1489260	NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His)	SLC12A3 (R398H +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1330263	NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp)	SLC12A3 (S614W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely pathogenic
Select item 1075402	NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter)	SLC12A3 (E111* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1067766	NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	SLC12A3 (R320W +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1028205	NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	SLC12A3 (S177L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GPathogenic/Likely pathogenic
Select item 994770	NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	SLC12A3 (G728V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 852297	NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)	SLC12A3 (K496* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 840885	NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)	SLC12A3 (R655C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805472	NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)	SLC12A3 (R208Q +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +3 more	GPathogenic
Select item 642947	NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	SLC12A3 (S555L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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
Select item 562346	NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	SLC12A3 (S615L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 448400	NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	SLC12A3 (A313V +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 448391	NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SLC12A3 (R399C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 429782	NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)	SLC12A3 (I154F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 381528	NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	SLC12A3 (R399L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 373500	NM_001126108.2(SLC12A3):c.2186G>A (p.Gly729Asp)	SLC12A3 (G729D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8588	NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	SLC12A3 (R655H +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 8586	NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp)	SLC12A3 (R209W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic

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Items: 28