C1848336[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805878	NM_001127898.4(CLCN5):c.1A>G (p.Met1Val)	CLCN5 (M1V)	Single nucleotide variant (missense variant +1 more)	Dent disease type 1	GUncertain significance
Select item 975095	NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter)	CLCN5 (E268* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GPathogenic
Select item 1805530	NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg)	CLCN5 (W314R +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 207996	NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)	CLCN5 (R347* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 975851	NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)	CLCN5 (N374fs +2 more)	Duplication (frameshift variant)	Dent disease type 1	GPathogenic
Select item 975058	NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)	CLCN5 (K411* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GPathogenic
Select item 1804929	NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)	CLCN5 (E414fs +2 more)	Deletion (frameshift variant)	Dent disease type 1	GPathogenic
Select item 1699237	NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met)	CLCN5 (V422M +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance

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