C0268450[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339514	NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	IDUA (L491P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1339518	NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)	SLC12A3 (L15fs)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 653276	NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	SLC12A3 (R80fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 319889	NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	SLC12A3 (R83W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1067262	NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr)	SLC12A3 (A522T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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 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 933654	NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter)	SLC12A3 (K957* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic