"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLCN1"[ge - ClinVar

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Items: 26

	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 359091	NM_000083.3(CLCN1):c.86A>C (p.His29Pro)	CLCN1 (H29P)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +5 more	GBenign/Likely benign
Select item 585689	NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)	CLCN1 (V138I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GConflicting classifications of pathogenicity
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 359104	NM_000083.3(CLCN1):c.663G>A (p.Ala221=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +4 more	GBenign/Likely benign
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 804708	NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)	CLCN1 (G233S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2110756	NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)	CLCN1 (V236I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity
Select item 697714	NM_000083.3(CLCN1):c.780A>G (p.Pro260=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	CLCN1-related disorder +2 more	GLikely benign
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 17539	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	CLCN1 (I290M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GPathogenic
Select item 390519	NM_000083.3(CLCN1):c.900G>A (p.Arg300=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
Select item 21050	NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	CLCN1 (F307S)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +4 more	GPathogenic
Select item 1643304	NM_000083.3(CLCN1):c.1065-5C>T	CLCN1	Single nucleotide variant (intron variant)	CLCN1-related disorder +2 more	GLikely benign
Select item 447045	NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)	CLCN1 (R377*)	Single nucleotide variant (nonsense +1 more)	CLCN1-related disorder +3 more	GPathogenic
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 1567866	NM_000083.3(CLCN1):c.1308C>T (p.His436=)	CLCN1	Single nucleotide variant (synonymous variant)	CLCN1-related disorder +2 more	GLikely benign
Select item 2635019	NM_000083.3(CLCN1):c.1437A>G (p.Ile479Met)	CLCN1 (I479M)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder	GUncertain significance
Select item 17535	NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)	CLCN1 (R496S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GPathogenic
Select item 359114	NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)	CLCN1 (K614N)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +4 more	GBenign/Likely benign
Select item 3032324	NM_000083.3(CLCN1):c.2100G>A (p.Ala700=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	CLCN1-related disorder	GLikely benign
Select item 3053175	NM_000083.3(CLCN1):c.2103T>C (p.Pro701=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	CLCN1-related disorder	GLikely benign
Select item 2945610	NM_000083.3(CLCN1):c.2285-7C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +2 more	GLikely benign
Select item 359123	NM_000083.3(CLCN1):c.2364+10G>A	CLCN1	Single nucleotide variant (intron variant)	Batten-Turner congenital myopathy +4 more	GLikely benign
Select item 511052	NM_000083.3(CLCN1):c.2509-3C>T	CLCN1	Single nucleotide variant (intron variant)	CLCN1-related disorder +3 more	GBenign/Likely benign
Select item 706052	NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)	CLCN1 (G945V)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GConflicting classifications of pathogenicity

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Items: 26