"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CLCN1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359089	NM_000083.3(CLCN1):c.26G>A (p.Arg9His)	CLCN1 (R9H)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +5 more	GBenign/Likely benign
Select item 289967	NM_000083.3(CLCN1):c.180+3A>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 359099	NM_000083.3(CLCN1):c.450C>T (p.Tyr150=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 420147	NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr)	CLCN1 (A218T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 17532	NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	CLCN1 (G230E)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GPathogenic
Select item 21047	NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)	CLCN1 (T268M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 280100	NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1 (G285E)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +4 more	GPathogenic
Select item 1076476	NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp)	CLCN1 (R300W)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
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)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 21037	NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	CLCN1 (R338Q)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 386985	NM_000083.3(CLCN1):c.1065-16T>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GBenign/Likely benign
Select item 447048	NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)	CLCN1 (R421fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 447052	NM_000083.3(CLCN1):c.1471+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal dominant form +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 359117	NM_000083.3(CLCN1):c.2136T>C (p.Asp712=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
Select item 570560	NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)	CLCN1 (S740C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 388183	NM_000083.3(CLCN1):c.2541C>T (p.His847=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 569127	NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp)	CLCN1 (N908D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GConflicting classifications of pathogenicity