"Ambry Genetics"[submitter] AND "LOC126863258"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2295355	NM_001127898.4(CLCN5):c.1873G>A (p.Glu625Lys)	CLCN5, LOC126863258 (E555K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2138099	NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr)	CLCN5, LOC126863258 (H578Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3068699	NM_001127898.4(CLCN5):c.2140A>G (p.Ile714Val)	CLCN5, LOC126863258 (I644V +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1 +1 more	GUncertain significance
Select item 1424968	NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)	CLCN5, LOC126863258 (I660V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 624416	NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)	CLCN5, LOC126863258 (E734A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, X-linked recessive +5 more	GUncertain significance
Select item 2606292	NM_001127898.4(CLCN5):c.2221C>T (p.Pro741Ser)	CLCN5, LOC126863258 (P691S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2251700	NM_001127898.4(CLCN5):c.2312A>G (p.Asp771Gly)	CLCN5, LOC126863258 (D701G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar