C2936781[trait identifier] AND "Department of Neurology and Geriatrics - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697269	NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr)	CLCN1 (S132T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 447068	NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)	CLCN1 (S183P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 1697273	NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)	CLCN1 (K215R)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 1175773	NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	CLCN1 (Y257*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 531747	NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)	CLCN1 (A298T)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 1697274	NM_000083.3(CLCN1):c.938C>T (p.Ala313Val)	CLCN1 (A313V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant 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 1697275	NM_000083.3(CLCN1):c.961G>A (p.Val321Met)	CLCN1 (V321M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GUncertain significance
Select item 1697276	NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn)	CLCN1 (T328N)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 1697277	NM_000083.3(CLCN1):c.998T>C (p.Phe333Ser)	CLCN1 (F333S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GUncertain significance
Select item 1697270	NM_000083.3(CLCN1):c.1028T>G (p.Phe343Cys)	CLCN1 (F343C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GUncertain significance
Select item 447049	NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	CLCN1 (R421H)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 1697271	NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr)	CLCN1 (P480T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GPathogenic
Select item 871782	NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)	CLCN1 (G523D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21040	NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	CLCN1 (A531V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1697272	NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)	CLCN1 (T539A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 935242	NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)	CLCN1 (M560T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 1059958	NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr)	CLCN1 (I870T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance