C1866495[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065220	NM_000338.3(SLC12A1):c.781G>A (p.Gly261Ser)	SLC12A1 (G261S)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 3064473	NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)	SLC12A1 (P389L)	Single nucleotide variant (missense variant)	Bartter disease type 1	GLikely pathogenic
Select item 1028203	NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg)	LOC126862123, SLC12A1 (G612R)	Single nucleotide variant (missense variant)	Bartter disease type 1	GLikely pathogenic

Format

Sort by

Choose Destination

ClinVar