"Athena Diagnostics Inc"[submitter] AND "SLC12A1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778549	NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn)	SLC12A1 (S24N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 778550	NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 586597	NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr)	SLC12A1 (C69Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805464	NM_000338.3(SLC12A1):c.262G>A (p.Ala88Thr)	SLC12A1 (A88T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994769	NM_000338.3(SLC12A1):c.513A>C (p.Gln171His)	SLC12A1 (Q171H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 448390	NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)	SLC12A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 805467	NM_000338.3(SLC12A1):c.816T>C (p.Val272=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 316257	NM_000338.3(SLC12A1):c.828G>A (p.Val276=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 242488	NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)	SLC12A1 (A508T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 255873	NM_000338.3(SLC12A1):c.2043-9dup	SLC12A1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 316265	NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val)	SLC12A1 (A733V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 316269	NM_000338.3(SLC12A1):c.2296-6G>T	SLC12A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 586598	NM_000338.3(SLC12A1):c.2338G>C (p.Gly780Arg)	SLC12A1 (G780R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953927	NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys)	SLC12A1 (Y781C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586599	NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg)	SLC12A1 (I812R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 316273	NM_000338.3(SLC12A1):c.2630-7G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 805465	NM_000338.3(SLC12A1):c.2770C>T (p.Leu924Phe)	SLC12A1 (L924F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316275	NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 805466	NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)	SLC12A1 (I957fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 586600	NM_000338.3(SLC12A1):c.2978del (p.Glu993fs)	SLC12A1 (E993fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 316280	NM_000338.3(SLC12A1):c.3096+7A>T	SLC12A1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 994768	NM_000338.3(SLC12A1):c.3160G>A (p.Val1054Ile)	SLC12A1 (V1054I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 24