ClinVar for MedGen (Select 10158) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 102

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220906	NM_000083.3:c.[742A>T];[2680C>T]			Congenital myotonia, autosomal recessive form	GPathogenic
Select item 1202581	NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe)	CLCN1 (V465F)	Single nucleotide variant (missense variant)	Batten-Turner congenital myopathy	GLikely pathogenic
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 912140	NM_000083.3(CLCN1):c.697-9C>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 912139	NM_000083.3(CLCN1):c.563-13T>G	CLCN1	Single nucleotide variant (intron variant)	Batten-Turner congenital myopathy	GUncertain significance
Select item 911028	NM_000083.3(CLCN1):c.*30G>A	CLCN1	Single nucleotide variant (3 prime UTR variant +1 more)	Batten-Turner congenital myopathy	GLikely benign
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 910973	NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)	CLCN1 (R611H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 910909	NM_000083.3(CLCN1):c.562+6A>C	CLCN1	Single nucleotide variant (intron variant)	Batten-Turner congenital myopathy	GUncertain significance
Select item 910908	NM_000083.3(CLCN1):c.546C>G (p.Ile182Met)	CLCN1 (I182M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 910142	NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe)	CLCN1 (S941F)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GLikely benign
Select item 910077	NM_000083.3(CLCN1):c.1767C>T (p.Tyr589=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely benign
Select item 910076	NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser)	CLCN1 (T533S)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 910075	NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 908202	NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu)	CLCN1 (G872E)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 908201	NM_000083.3(CLCN1):c.2285-15C>A	CLCN1	Single nucleotide variant (intron variant)	Batten-Turner congenital myopathy +2 more	GLikely benign
Select item 908200	NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu)	CLCN1 (P755L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 908127	NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe)	CLCN1 (L418F)	Single nucleotide variant (missense variant)	Batten-Turner congenital myopathy	GUncertain significance
Select item 908126	NM_000083.3(CLCN1):c.1251+14G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 908062	NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	CLCN1 (R53C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GUncertain significance
Select item 761759	NM_000083.3(CLCN1):c.705C>T (p.Phe235=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 664036	NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)	CLCN1 (C254W)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +2 more	GPathogenic/Likely pathogenic
Select item 646134	NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)	CLCN1 (V321E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 641198	NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)	CLCN1 (T631I)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +2 more	GConflicting classifications of pathogenicity
Select item 639252	NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	CLCN1 (R105C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 631999	NM_000083.3(CLCN1):c.2192dup (p.His732fs)	CLCN1 (H732fs)	Duplication (frameshift variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 631998	NM_000083.3(CLCN1):c.1796+2_1796+6del	CLCN1	Microsatellite (splice donor variant)	Batten-Turner congenital myopathy	GUncertain significance
Select item 585689	NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)	CLCN1 (V138I)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +4 more	GConflicting classifications of pathogenicity
Select item 582671	NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala)	CLCN1 (P939A)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GUncertain significance
Select item 531743	NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser)	CLCN1 (G375S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 513358	NM_000083.3(CLCN1):c.1863A>G (p.Thr621=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GLikely benign
Select item 510550	NM_000083.3(CLCN1):c.1593G>A (p.Ala531=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 462843	NM_000083.3(CLCN1):c.302-4C>T	CLCN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 447060	NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)	CLCN1 (N745S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GConflicting classifications of pathogenicity
Select item 392559	NM_000083.3(CLCN1):c.1815T>C (p.Val605=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GBenign/Likely benign
Select item 390519	NM_000083.3(CLCN1):c.900G>A (p.Arg300=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +4 more	GBenign/Likely benign
Select item 373945	NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SCN4A (V445L)	Single nucleotide variant (missense variant)	Pain +6 more	GConflicting classifications of pathogenicity
Select item 359130	NM_000083.3(CLCN1):c.*29C>T	CLCN1	Single nucleotide variant (3 prime UTR variant +1 more)	Batten-Turner congenital myopathy	GLikely benign
Select item 359129	NM_000083.3(CLCN1):c.*29C>A	CLCN1	Single nucleotide variant (3 prime UTR variant +1 more)	Batten-Turner congenital myopathy +1 more	GConflicting classifications of pathogenicity
Select item 359128	NM_000083.3(CLCN1):c.2901C>T (p.Ala967=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +2 more	GBenign/Likely benign
Select item 359127	NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)	CLCN1 (T929I)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +1 more	GUncertain significance
Select item 359126	NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys)	CLCN1 (E905K)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 359125	NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GConflicting classifications of pathogenicity
Select item 359124	NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)	CLCN1 (A849T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 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 359122	NM_000083.3(CLCN1):c.2244G>A (p.Leu748=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GBenign
Select item 359121	NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)	CLCN1 (P744T)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +4 more	GConflicting classifications of pathogenicity
Select item 359120	NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)	CLCN1 (T736I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 359119	NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)	CLCN1 (P727L)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
Select item 359118	NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
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 359116	NM_000083.3(CLCN1):c.2124C>T (p.Phe708=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely benign
Select item 359115	NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg)	CLCN1 (G623R)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 359114	NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)	CLCN1 (K614N)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
Select item 359113	NM_000083.3(CLCN1):c.1797-9C>T	CLCN1	Single nucleotide variant (intron variant)	Batten-Turner congenital myopathy +3 more	GBenign
Select item 359112	NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val)	CLCN1 (G594V)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GUncertain significance
Select item 359111	NM_000083.3(CLCN1):c.1402-9C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +3 more	GBenign
Select item 359110	NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu)	CLCN1 (M466L)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 359109	NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr)	CLCN1 (A437T)	Single nucleotide variant (missense variant)	Batten-Turner congenital myopathy +3 more	GBenign
Select item 359108	NM_000083.3(CLCN1):c.1251+11G>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 359107	NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)	CLCN1 (A402V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 359105	NM_000083.3(CLCN1):c.756G>A (p.Val252=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +2 more	GConflicting classifications of pathogenicity
Select item 359104	NM_000083.3(CLCN1):c.663G>A (p.Ala221=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +5 more	GBenign/Likely benign
Select item 359103	NM_000083.3(CLCN1):c.651C>T (p.Val217=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 359102	NM_000083.3(CLCN1):c.563-9C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GBenign/Likely benign
Select item 359101	NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg)	CLCN1 (Q154R)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +4 more	GBenign/Likely benign
Select item 359100	NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr)	CLCN1 (A151T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 359098	NM_000083.3(CLCN1):c.434-14A>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +3 more	GLikely benign
Select item 359097	NM_000083.3(CLCN1):c.369T>C (p.Leu123=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely benign
Select item 359096	NM_000083.3(CLCN1):c.316C>G (p.Leu106Val)	CLCN1 (L106V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GBenign/Likely benign
Select item 359095	NM_000083.3(CLCN1):c.314G>A (p.Arg105His)	CLCN1 (R105H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GConflicting classifications of pathogenicity
Select item 359094	NM_000083.3(CLCN1):c.261C>T (p.Thr87=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GBenign
Select item 359093	NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr)	CLCN1 (R72T)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +2 more	GUncertain significance
Select item 359092	NM_000083.3(CLCN1):c.156C>T (p.Pro52=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 359091	NM_000083.3(CLCN1):c.86A>C (p.His29Pro)	CLCN1 (H29P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +5 more	GBenign/Likely benign
Select item 359090	NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu)	CLCN1 (D19E)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 359089	NM_000083.3(CLCN1):c.26G>A (p.Arg9His)	CLCN1 (R9H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 359088	NM_000083.3(CLCN1):c.-21C>T	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
Select item 289005	NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)	CLCN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 280101	NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	CLCN1 (M485V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +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)	Congenital myotonia, autosomal recessive form +4 more	GPathogenic/Likely pathogenic
Select item 265646	NM_000083.3(CLCN1):c.774+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	not provided +3 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 recessive form +4 more	GConflicting classifications of pathogenicity
Select item 252462	NM_000083.3(CLCN1):c.2284+5C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +4 more	GConflicting classifications of pathogenicity
Select item 208084	NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	CLCN1 (T550M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 208083	NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)	CLCN1 (F428S)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 199652	NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)	CLCN1 (R976*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +3 more	GUncertain significance
Select item 21051	NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	CLCN1 (T310M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 21050	NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	CLCN1 (F307S)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +4 more	GPathogenic
Select item 21042	NM_000083.3(CLCN1):c.2330del (p.Gly777fs)	CLCN1 (G777fs)	Deletion (frameshift variant +1 more)	Batten-Turner congenital myopathy	Gnot provided
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 17546	NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	CLCN1 (M128V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	Tip-toe gait +8 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)	Congenital myotonia, autosomal dominant form +8 more	GPathogenic/Likely pathogenic
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 17538	NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	CLCN1 (Q552R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17537	NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	CLCN1 (P480L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic

<< First< Prev

Page of 2