C0268450[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 101514	NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	SLC12A3 (T60M)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 648571	NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	SLC12A3 (T179K +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1684175	NM_001126108.2(SLC12A3):c.602-16G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 64418	NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val)	SLC12A3 (M233V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2572446	NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs)	SLC12A3 (S282fs +1 more)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1705486	NM_001126108.2(SLC12A3):c.979del (p.Gln327fs)	SLC12A3 (Q326fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
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 1705505	NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter)	SLC12A3 (W745* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1012270	NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val)	SLC12A3 (D839V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225470	NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	SLC12A3 (L858H +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 849196	NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs)	SLC12A3 (R950fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1459728	NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe)	SLC12A3 (S967F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic