"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CLCN1"[gen - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658114	NM_000083.3(CLCN1):c.-59C>A	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
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 289967	NM_000083.3(CLCN1):c.180+3A>T	CLCN1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 639252	NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	CLCN1 (R105C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 624303	NM_000083.3(CLCN1):c.434-1_437del	CLCN1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 359101	NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg)	CLCN1 (Q154R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +6 more	GConflicting classifications of pathogenicity
Select item 1175772	NM_000083.3(CLCN1):c.562+1G>C	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic/Likely pathogenic
Select item 289004	NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)	CLCN1 (G190R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	Congenital myotonia, autosomal recessive form +8 more	GConflicting classifications of pathogenicity
Select item 1008856	NM_000083.3(CLCN1):c.637G>A (p.Val213Met)	CLCN1 (V213M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 421069	NM_000083.3(CLCN1):c.696G>A (p.Glu232=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 1175773	NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	CLCN1 (Y257*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 2658115	NM_000083.3(CLCN1):c.774+464C>T	CLCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 359106	NM_000083.3(CLCN1):c.804G>A (p.Thr268=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
Select item 663722	NM_000083.3(CLCN1):c.817G>A (p.Val273Met)	CLCN1 (V273M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 624304	NM_000083.3(CLCN1):c.852A>G (p.Gly284=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 280100	NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1 (G285E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 252463	NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	CLCN1 (R300Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GConflicting classifications of pathogenicity
Select item 21052	NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	CLCN1 (A313T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1062239	NM_000083.3(CLCN1):c.980-3C>G	CLCN1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 810202	NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)	CLCN1 (T328I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 425428	NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)	CLCN1 (R338*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 462828	NM_000083.3(CLCN1):c.1167-10T>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 429659	NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)	CLCN1 (G411C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 17531	NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	CLCN1 (F413C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 447049	NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	CLCN1 (R421H)	Single nucleotide variant (missense variant)	CLCN1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2673131	NM_000083.3(CLCN1):c.1290C>T (p.Asn430=)	CLCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 289005	NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)	CLCN1	Single nucleotide variant (synonymous variant)	Batten-Turner congenital myopathy +3 more	GConflicting classifications of pathogenicity
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 547028	NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del)	CLCN1	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 546108	NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)	CLCN1 (G482R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 280101	NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	CLCN1 (M485V)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GConflicting classifications of pathogenicity
Select item 871782	NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)	CLCN1 (G523D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 1013567	NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)	CLCN1 (T550R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 208084	NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	CLCN1 (T550M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 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 1299097	NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)	CLCN1 (A566V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 1299098	NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)	CLCN1 (L577R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 444735	NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn)	CLCN1 (S599N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 392559	NM_000083.3(CLCN1):c.1815T>C (p.Val605=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
Select item 932475	NM_000083.3(CLCN1):c.1818G>A (p.Glu606=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1339487	NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)	CLCN1 (L629P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 1013568	NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	CLCN1 (V640G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 585686	NM_000083.3(CLCN1):c.1930+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 3067630	NM_000083.3(CLCN1):c.2021C>A (p.Ala674Asp)	CLCN1, LOC123956257 (A674D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 836780	NM_000083.3(CLCN1):c.2172+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 572040	NM_000083.3(CLCN1):c.2172+1G>T	CLCN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 359120	NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)	CLCN1 (T736I)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
Select item 252462	NM_000083.3(CLCN1):c.2284+5C>T	CLCN1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 624305	NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)	CLCN1 (L843P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely pathogenic
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +8 more	GPathogenic/Likely pathogenic
Select item 871783	NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	CLCN1 (P930fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GConflicting classifications of pathogenicity
Select item 449671	NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	CLCN1 (E955V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic

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Items: 56