"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975084	NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs)	SLC12A3 (D12fs)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 101514	NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	SLC12A3 (T60M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 653276	NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	SLC12A3 (R80fs)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 632258	NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	SLC12A3 (R83Q)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely 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 448400	NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	SLC12A3 (A313V +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 1383910	NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)	SLC12A3 (A419fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 8587	NM_001126108.2(SLC12A3):c.1926-1G>T	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	Inherited renal tubular disease +7 more	GPathogenic/Likely pathogenic
Select item 437926	NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys)	SLC12A3 (R861C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 835523	NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)	LOC126862361, SLC12A3 (R1009* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic