"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLCN3"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633742	NM_001829.4(CLCN3):c.556A>G (p.Lys186Glu)	CLCN3 (K159E +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 2632869	NM_001829.4(CLCN3):c.824C>T (p.Ser275Leu)	CLCN3 (S248L +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 3054093	NM_001829.4(CLCN3):c.1228G>A (p.Ala410Thr)	CLCN3 (A383T +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 3054373	NM_001829.4(CLCN3):c.1247G>A (p.Arg416His)	CLCN3 (R389H +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GLikely benign
Select item 2635295	NM_001829.4(CLCN3):c.1441A>G (p.Ser481Gly)	CLCN3 (S454G +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 3061165	NM_001829.4(CLCN3):c.2343G>A (p.Arg781=)	CLCN3	Single nucleotide variant (synonymous variant)	CLCN3-related disorder	GLikely benign
Select item 3036288	NM_001829.4(CLCN3):c.2366+1G>T	CLCN3	Single nucleotide variant (splice donor variant)	CLCN3-related disorder	GUncertain significance
Select item 3061061	NM_001829.4(CLCN3):c.*55G>A	CLCN3 (S863N)	Single nucleotide variant (3 prime UTR variant +1 more)	CLCN3-related disorder	GUncertain significance

ClinVar