C0751360[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908062	NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	CLCN1 (R53C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GUncertain significance
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +6 more	GConflicting classifications of pathogenicity
Select item 930283	NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly)	CLCN1 (S175G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	Myotonia of the upper limb +8 more	GConflicting classifications of pathogenicity
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 21052	NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	CLCN1 (A313T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
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 932027	NM_000083.3(CLCN1):c.979+1G>T	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form	GPathogenic
Select item 523317	NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)	CLCN1 (F343L)	Single nucleotide variant (missense variant +1 more)	Myotonia +3 more	GConflicting classifications of pathogenicity
Select item 252462	NM_000083.3(CLCN1):c.2284+5C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +4 more	GConflicting classifications of pathogenicity
Select item 930544	NM_000083.3(CLCN1):c.2284+12C>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GConflicting classifications of pathogenicity
Select item 374131	NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)	CLCN1, FAM131B (Q879*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +3 more	GPathogenic
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