"GeneDx"[submitter] AND "LOC126862361"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257627	NM_001126108.2(SLC12A3):c.2925-270G>C	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707171	NM_001126108.2(SLC12A3):c.2925-45G>A	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 946107	NM_001126108.2(SLC12A3):c.2963_2966dup (p.Tyr990fs)	LOC126862361, SLC12A3 (Y990fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 319921	NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 781206	NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 586606	NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg)	SLC12A3, LOC126862361 (Q1030R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 319924	NM_001126108.2(SLC12A3):c.*205A>G	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign