"OMIM"[submitter] AND "CLCN1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17546	NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	CLCN1 (M128V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 17548	NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)	CLCN1 (S189F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 17532	NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	CLCN1 (G230E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GPathogenic
Select item 17544	NM_000083.3(CLCN1):c.830dup (p.Cys277fs)	CLCN1 (C277fs)	Duplication (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 17539	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	CLCN1 (I290M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 17541	NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	CLCN1 (E291K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 17547	NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter)	CLCN1 (R300*)	Indel (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GPathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	Memory impairment +8 more	GPathogenic/Likely pathogenic
Select item 17534	NM_000083.3(CLCN1):c.979+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form	GPathogenic
Select item 1070310	NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro)	CLCN1 (Q412P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 17531	NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	CLCN1 (F413C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GPathogenic
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 17537	NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	CLCN1 (P480L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 546108	NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)	CLCN1 (G482R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 17535	NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)	CLCN1 (R496S)	Single nucleotide variant (missense variant +1 more)	CLCN1-related condition +3 more	GPathogenic
Select item 17543	NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg)	CLCN1 (G499R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 17538	NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	CLCN1 (Q552R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 17533	NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)	CLCN1 (P932L)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 199652	NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)	CLCN1 (R976*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +3 more	GUncertain significance
Select item 40242	NG_009815.1:g.19647-?_28496+?dup	CLCN1	Duplication	Congenital myotonia, autosomal recessive form	GPathogenic
Select item 17549	CLCN1, TRP433ARG	CLCN1	Variation	Congenital myotonia, autosomal recessive form +1 more	GPathogenic

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Items: 22