C0268450[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323600	NM_001126108.2(SLC12A3):c.329del (p.Ser110fs)	SLC12A3 (S109fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2433361	NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)	SLC12A3	Deletion (frameshift variant +1 more)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 647629	NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)	SLC12A3 (R157Q +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 448398	NM_001126108.2(SLC12A3):c.506-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 2435968	NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)	SLC12A3 (I191T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2152407	NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)	SLC12A3 (T234M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433367	NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)	SLC12A3 (A250fs +1 more)	Deletion (frameshift variant)	not provided +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 1325074	NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs)	SLC12A3 (N327fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1069509	NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)	SLC12A3 (T391I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437426	NM_001126108.2(SLC12A3):c.1180+1G>T	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 448391	NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SLC12A3 (R399C +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 712200	NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)	SLC12A3 (I520V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1684161	NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr)	SLC12A3 (A549T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 642947	NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	SLC12A3 (S555L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GPathogenic/Likely pathogenic
Select item 665361	NM_001126108.2(SLC12A3):c.1670-191C>T	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder +2 more	GConflicting classifications of pathogenicity
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 1177424	NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met)	SLC12A3 (I637M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 267286	NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)	SLC12A3 (N640S +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 944812	NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys)	SLC12A3 (R641C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 319909	NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	SLC12A3 (R642H +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 448392	NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)	SLC12A3 (T697fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 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 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1343265	NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr)	SLC12A3 (I757T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 319918	NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 372504	NM_001126108.2(SLC12A3):c.2856+1G>T	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 417864	NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	SLC12A3 (R964Q +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +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 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

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Items: 32