ClinVar for Gene (Select 123956257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3066123	NM_000083.3(CLCN1):c.2038A>T (p.Lys680Ter)	LOC123956257, CLCN1 (K680*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 3053175	NM_000083.3(CLCN1):c.2103T>C (p.Pro701=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	CLCN1-related condition	GLikely benign
Select item 3032324	NM_000083.3(CLCN1):c.2100G>A (p.Ala700=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	CLCN1-related condition	GLikely benign
Select item 3024207	NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)	CLCN1, LOC123956257 (E668*)	Duplication (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024206	NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)	CLCN1, LOC123956257 (C666fs)	Microsatellite (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024205	NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)	CLCN1, LOC123956257 (Q662*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 2953551	NM_000083.3(CLCN1):c.1978del (p.Leu660fs)	CLCN1, LOC123956257 (L660fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 2948827	NM_000083.3(CLCN1):c.1942C>T (p.Leu648=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2946419	NM_000083.3(CLCN1):c.2058C>T (p.Tyr686=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2946131	NM_000083.3(CLCN1):c.1960C>A (p.Arg654=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2944771	NM_000083.3(CLCN1):c.2007C>T (p.Arg669=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2944680	NM_000083.3(CLCN1):c.1931-20A>C	CLCN1, LOC123956257	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2943094	NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)	CLCN1, LOC123956257 (G650C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2942479	NM_000083.3(CLCN1):c.1985del (p.Gln662fs)	CLCN1, LOC123956257 (Q662fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2942422	NM_000083.3(CLCN1):c.1962G>A (p.Arg654=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2941588	NM_000083.3(CLCN1):c.2115C>G (p.Pro705=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2939443	NM_000083.3(CLCN1):c.1931-16C>T	CLCN1, LOC123956257	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2938092	NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)	CLCN1, LOC123956257 (L648P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2937410	NM_000083.3(CLCN1):c.2097C>A (p.Gly699=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2935929	NM_000083.3(CLCN1):c.2082G>T (p.Gly694=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2934353	NM_000083.3(CLCN1):c.2052G>A (p.Leu684=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2933813	NM_000083.3(CLCN1):c.2013G>A (p.Leu671=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2932267	NM_000083.3(CLCN1):c.1980C>T (p.Leu660=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2925979	NM_000083.3(CLCN1):c.2061C>T (p.Asp687=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2925429	NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)	CLCN1, LOC123956257 (R669C)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 2924356	NM_000083.3(CLCN1):c.2082G>A (p.Gly694=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2922645	NM_000083.3(CLCN1):c.2091C>T (p.Leu697=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2921725	NM_000083.3(CLCN1):c.2106A>G (p.Pro702=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2627050	NM_000083.3(CLCN1):c.1949G>A (p.Gly650Asp)	CLCN1, LOC123956257 (G650D)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 2615848	NM_000083.3(CLCN1):c.2005C>G (p.Arg669Gly)	CLCN1, LOC123956257 (R669G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2442493	NM_000083.3(CLCN1):c.2095_2118delinsTTCGCCTTTGTGGATGTGGCTGGGGAGGGGCTC (p.Gly699_Glu706delinsPheAlaPheValAspValAlaGlyGluGlyLeu)	LOC123956257, CLCN1	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2440113	NM_000083.3(CLCN1):c.2062G>C (p.Gly688Arg)	CLCN1, LOC123956257 (G688R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440109	NM_000083.3(CLCN1):c.2059G>C (p.Asp687His)	CLCN1, LOC123956257 (D687H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440108	NM_000083.3(CLCN1):c.1936A>G (p.Met646Val)	CLCN1, LOC123956257 (M646V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2255069	NM_000083.3(CLCN1):c.2011C>G (p.Leu671Val)	CLCN1, LOC123956257 (L671V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2179677	NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2162462	NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 2152939	NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)	CLCN1, LOC123956257 (E695Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 2136176	NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)	CLCN1, LOC123956257 (D644G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2130343	NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)	CLCN1, LOC123956257 (E683A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2049782	NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)	CLCN1, LOC123956257 (P705L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2046205	NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)	CLCN1, LOC123956257 (M677V)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2000414	NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)	CLCN1, LOC123956257 (P698fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 1991507	NM_000083.3(CLCN1):c.2100G>T (p.Ala700=)	LOC123956257, CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 1807074	NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)	CLCN1, LOC123956257 (A700E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1723138	NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)	CLCN1, LOC123956257 (R672G)	Single nucleotide variant (missense variant +1 more)	Hypokalemic periodic paralysis, type 1	GPathogenic
Select item 1723137	NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)	CLCN1, LOC123956257 (R672H)	Single nucleotide variant (missense variant +1 more)	Hyperkalemic periodic paralysis	GPathogenic
Select item 1687485	NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter)	CLCN1, LOC123956257 (Y686*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 1672194	NM_000083.3(CLCN1):c.1965G>A (p.Ser655=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 1577818	NM_000083.3(CLCN1):c.2097C>G (p.Gly699=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 1563780	NM_000083.3(CLCN1):c.2046G>C (p.Ser682=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 1560248	NM_000083.3(CLCN1):c.2007C>G (p.Arg669=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 1509814	NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del)	CLCN1, LOC123956257	Deletion (inframe_deletion +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 1509221	NM_000083.3(CLCN1):c.1931-1G>C	CLCN1, LOC123956257	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 1494015	NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala)	LOC123956257, CLCN1 (V652A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 1453541	NM_000083.3(CLCN1):c.2045del (p.Ser682fs)	CLCN1, LOC123956257 (S682fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 1441453	NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu)	CLCN1, LOC123956257 (M646L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 1438713	NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu)	CLCN1, LOC123956257 (R654L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 1430160	NM_000083.3(CLCN1):c.2097C>T (p.Gly699=)	LOC123956257, CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 1395064	NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys)	CLCN1, LOC123956257 (E656K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 1387357	NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro)	CLCN1, LOC123956257 (R672P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1382035	NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile)	CLCN1, LOC123956257 (L697I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 1095144	NM_000083.3(CLCN1):c.1931-5C>T	LOC123956257, CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 1054004	NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val)	CLCN1, LOC123956257 (A659V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1009927	NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly)	CLCN1, LOC123956257 (L684G)	Indel (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 998666	NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile)	CLCN1, LOC123956257 (L660I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 995341	NM_000083.3(CLCN1):c.1974G>A (p.Gln658=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 995340	NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser)	CLCN1, LOC123956257 (G650S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 962677	NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp)	CLCN1, LOC123956257 (G688W)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely pathogenic
Select item 958433	NM_000083.3(CLCN1):c.2005C>A (p.Arg669Ser)	CLCN1, LOC123956257 (R669S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 941031	NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu)	CLCN1, LOC123956257 (G696E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 912205	NM_000083.3(CLCN1):c.2114C>G (p.Pro705Arg)	LOC123956257, CLCN1 (P705R)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 910974	NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro)	CLCN1, LOC123956257 (A673P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 860103	NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln)	CLCN1, LOC123956257 (R704Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 817974	NM_000083.3(CLCN1):c.1966del (p.Glu656fs)	CLCN1, LOC123956257 (E656fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 817723	NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs)	LOC123956257, CLCN1 (A673fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 817516	NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter)	CLCN1, LOC123956257 (Y686*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 804703	NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala)	CLCN1, LOC123956257 (G703A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 799652	NM_000083.3(CLCN1):c.1935A>G (p.Ser645=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 772348	NM_000083.3(CLCN1):c.2022C>G (p.Ala674=)	LOC123956257, CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 705889	NM_000083.3(CLCN1):c.1990C>T (p.His664Tyr)	CLCN1, LOC123956257 (H664Y)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GBenign
Select item 705299	NM_000083.3(CLCN1):c.2028G>A (p.Glu676=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 697521	NM_000083.3(CLCN1):c.2094C>T (p.Pro698=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 680143	NM_000083.3(CLCN1):c.1931-62G>A	CLCN1, LOC123956257	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 640272	NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)	CLCN1, LOC123956257 (S651P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 585687	NM_000083.3(CLCN1):c.2023C>T (p.Gln675Ter)	CLCN1, LOC123956257 (Q675*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 583787	NC_000007.14:g.(?_143345501)_(143350674_?)del	CLCN1, LOC123956257	Deletion	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 531752	NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu)	CLCN1, LOC123956257 (P667L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 462837	NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp)	CLCN1, LOC123956257 (Y686D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 462836	NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln)	CLCN1, LOC123956257 (E683Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 462835	NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg)	CLCN1, LOC123956257 (L671R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 462834	NM_000083.3(CLCN1):c.1988G>A (p.Arg663His)	CLCN1, LOC123956257 (R663H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 462833	NM_000083.3(CLCN1):c.1953G>T (p.Ser651=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 447059	NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro)	CLCN1, LOC123956257 (Q675P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 423307	NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln)	CLCN1, LOC123956257 (E676Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 422404	NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg)	CLCN1, LOC123956257	Insertion (inframe_indel +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 386578	NM_000083.3(CLCN1):c.1977C>A (p.Ala659=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely benign

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