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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870375	NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg)	KCNJ1 (L220R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 872043	NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	KCNJ1 (L218F +2 more)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GConflicting classifications of pathogenicity
Select item 870374	NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln)	KCNJ1 (R201Q +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 1806150	NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)	KCNJ1 (K171N +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 1806147	NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)	KCNJ1 (P101L +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance

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