Related gene-specific medical variations for Gene (Select 1181) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361434	NM_004366.6(CLCN2):c.1810C>G (p.Leu604Val)	CLCN2 (L560V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361423	NM_004366.6(CLCN2):c.1323G>C (p.Met441Ile)	CLCN2 (M397I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359420	NM_004366.6(CLCN2):c.1584T>G (p.Ile528Met)	CLCN2 (I484M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242580	NM_004366.6(CLCN2):c.63+1G>A	CLCN2, LOC129938055	Single nucleotide variant (splice donor variant)	CLCN2-related disorder	GLikely pathogenic
Select item 3068719	NM_004366.6(CLCN2):c.61dup (p.Leu21fs)	CLCN2, LOC129938055 (L21fs)	Duplication (frameshift variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	GPathogenic
Select item 3068078	NM_004366.6(CLCN2):c.1856-6G>A	CLCN2	Single nucleotide variant (intron variant)	Familial hyperaldosteronism type II	GLikely benign
Select item 2688791	NM_004366.6(CLCN2):c.1067A>C (p.Asn356Thr)	CLCN2 (N312T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440123	NM_004366.6(CLCN2):c.1335G>A (p.Met445Ile)	CLCN2 (M401I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439141	NM_004366.6(CLCN2):c.207C>A (p.Cys69Ter)	CLCN2 (C69*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1958391	NM_004366.6(CLCN2):c.63+4A>G	CLCN2, LOC129938055	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1951056	NM_004366.6(CLCN2):c.37C>T (p.Arg13Trp)	CLCN2, LOC129938055 (R13W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342325	NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)	CLCN2 (L831V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +2 more	GUncertain significance
Select item 975214	NM_004366.6(CLCN2):c.1373C>G (p.Ala458Gly)	CLCN2 (A414G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975213	NM_004366.6(CLCN2):c.532G>A (p.Glu178Lys)	CLCN2 (E134K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 809573	NM_004366.6(CLCN2):c.2600C>T (p.Thr867Met)	CLCN2 (T823M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598765	NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro)	CLCN2 (T139P +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11	GUncertain significance
Select item 374710	NM_004366.6(CLCN2):c.2517C>T (p.Ile839=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance