ClinVar for Gene (Select 1180) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371555	NM_000083.3(CLCN1):c.2845G>A (p.Gly949Ser)	CLCN1 (G949S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371254	NM_000083.3(CLCN1):c.2540A>T (p.His847Leu)	CLCN1 (H847L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368885	NM_000083.3(CLCN1):c.1712A>G (p.Gln571Arg)	CLCN1 (Q571R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366557	NM_000083.3(CLCN1):c.854-1G>A	CLCN1	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3366360	NM_000083.3(CLCN1):c.2262del (p.Gln754fs)	CLCN1 (Q754fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GPathogenic
Select item 3365351	NM_000083.3(CLCN1):c.1400A>T (p.Lys467Met)	CLCN1 (K467M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359578	NM_000083.3(CLCN1):c.401G>A (p.Ser134Asn)	CLCN1 (S134N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359392	NM_000083.3(CLCN1):c.1616C>T (p.Thr539Ile)	CLCN1 (T539I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3354496	NM_000083.3(CLCN1):c.965G>A (p.Trp322Ter)	CLCN1 (W322*)	Single nucleotide variant (nonsense +1 more)	CLCN1-related disorder	GLikely pathogenic
Select item 3349931	NM_000083.3(CLCN1):c.1100dup (p.Tyr367Ter)	CLCN1 (Y367*)	Duplication (nonsense +1 more)	CLCN1-related disorder	GLikely pathogenic
Select item 3348907	NM_000083.3(CLCN1):c.2179_2186del (p.Pro727fs)	CLCN1 (P727fs)	Deletion (frameshift variant +1 more)	CLCN1-related disorder	GLikely pathogenic
Select item 3346896	NM_000083.3(CLCN1):c.2047G>T (p.Glu683Ter)	CLCN1, LOC123956257 (E683*)	Single nucleotide variant (nonsense +1 more)	CLCN1-related disorder	GLikely pathogenic
Select item 3343708	NM_000083.3(CLCN1):c.1337C>T (p.Ser446Leu)	CLCN1 (S446L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342775	NM_000083.3(CLCN1):c.1315G>T (p.Asp439Tyr)	CLCN1 (D439Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340660	NM_000083.3(CLCN1):c.37C>T (p.Gln13Ter)	CLCN1 (Q13*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3340571	NM_000083.3(CLCN1):c.1648A>G (p.Thr550Ala)	CLCN1 (T550A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3339995	NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)	CLCN1 (G859D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3339409	NM_000083.3(CLCN1):c.395G>A (p.Ser132Asn)	CLCN1 (S132N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338417	NM_000083.3(CLCN1):c.946T>A (p.Phe316Ile)	CLCN1 (F316I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 3336600	NM_000083.3(CLCN1):c.1412C>T (p.Ser471Phe)	CLCN1 (S471F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336010	NM_000083.3(CLCN1):c.2062G>A (p.Gly688Arg)	CLCN1, LOC123956257 (G688R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267555	NM_000083.3(CLCN1):c.2536C>T (p.Leu846Phe)	CLCN1 (L846F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267554	NM_000083.3(CLCN1):c.2758G>A (p.Gly920Arg)	CLCN1 (G920R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267552	NM_000083.3(CLCN1):c.2959A>G (p.Ile987Val)	CLCN1 (I987V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267551	NM_000083.3(CLCN1):c.2077G>A (p.Ala693Thr)	CLCN1, LOC123956257 (A693T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267550	NM_000083.3(CLCN1):c.2050C>A (p.Leu684Met)	CLCN1, LOC123956257 (L684M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251802	NM_000083.3(CLCN1):c.1117A>T (p.Met373Leu)	CLCN1 (M373L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251731	NM_000083.3(CLCN1):c.1918G>C (p.Val640Leu)	CLCN1 (V640L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245730	NC_000007.13:g.(?_143013355)_(143018256_?)del	CLCN1	Deletion	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 3245729	NC_000007.13:g.(?_143047445)_(143049058_?)del	CLCN1	Deletion	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 3245728	NC_000007.13:g.(?_143029321)_(143029798_?)del	CLCN1	Deletion	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 3245727	NC_000007.13:g.(?_143013306)_(143013505_?)del	CLCN1	Deletion	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 3235849	NM_000083.3(CLCN1):c.854-1010T>C	CLCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3233339	NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu)	CLCN1 (M419L)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal dominant form +1 more	GLikely pathogenic
Select item 3233338	NM_000083.3(CLCN1):c.2364+2T>C	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal dominant form +1 more	GLikely pathogenic
Select item 3220906	NM_000083.3:c.[742A>T];[2680C>T]			Congenital myotonia, autosomal recessive form	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3145396	NM_000083.3(CLCN1):c.647T>C (p.Val216Ala)	CLCN1 (V216A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145394	NM_000083.3(CLCN1):c.311A>G (p.His104Arg)	CLCN1 (H104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3145393	NM_000083.3(CLCN1):c.2813C>T (p.Pro938Leu)	CLCN1 (P938L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145392	NM_000083.3(CLCN1):c.1681G>A (p.Val561Met)	CLCN1 (V561M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145391	NM_000083.3(CLCN1):c.117T>G (p.Asn39Lys)	CLCN1 (N39K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068602	NM_000083.3(CLCN1):c.502C>G (p.Pro168Ala)	CLCN1 (P168A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 3068218	NM_000083.3(CLCN1):c.1472G>A (p.Gly491Glu)	CLCN1 (G491E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely 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 3066123	NM_000083.3(CLCN1):c.2038A>T (p.Lys680Ter)	CLCN1, LOC123956257 (K680*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 3065364	NM_000083.3(CLCN1):c.860T>C (p.Leu287Pro)	CLCN1 (L287P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 3064092	NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter)	CLCN1 (Y850*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form	GLikely pathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
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 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 3024210	NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)	CLCN1 (E291*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024209	NM_000083.3(CLCN1):c.774+3A>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024208	NM_000083.3(CLCN1):c.603dup (p.Val202fs)	CLCN1 (V202fs)	Duplication (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
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 3024204	NM_000083.3(CLCN1):c.1600G>A (p.Gly534Ser)	CLCN1 (G534S)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 3024203	NM_000083.3(CLCN1):c.1027T>A (p.Phe343Ile)	CLCN1 (F343I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 3024202	NM_000083.3(CLCN1):c.891del (p.Phe297fs)	CLCN1 (F297fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 2954447	NM_000083.3(CLCN1):c.2538C>T (p.Leu846=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2954425	NM_000083.3(CLCN1):c.980-10C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2954219	NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)	CLCN1 (R53L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 2953881	NM_000083.3(CLCN1):c.768A>G (p.Val256=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2953772	NM_000083.3(CLCN1):c.1065-17A>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2953596	NM_000083.3(CLCN1):c.1402-4C>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2953551	NM_000083.3(CLCN1):c.1978del (p.Leu660fs)	CLCN1, LOC123956257 (L660fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2953283	NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)	CLCN1 (G285R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 2953207	NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)	CLCN1 (L954V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2953136	NM_000083.3(CLCN1):c.2439T>C (p.Pro813=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2953126	NM_000083.3(CLCN1):c.853+13C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952901	NM_000083.3(CLCN1):c.2901C>A (p.Ala967=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952781	NM_000083.3(CLCN1):c.854-17C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952779	NM_000083.3(CLCN1):c.945G>T (p.Val315=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952762	NM_000083.3(CLCN1):c.2403+14A>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952639	NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)	CLCN1 (I479L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2952604	NM_000083.3(CLCN1):c.1081C>T (p.Leu361=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952490	NM_000083.3(CLCN1):c.1092A>G (p.Val364=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952313	NM_000083.3(CLCN1):c.1695G>A (p.Leu565=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952237	NM_000083.3(CLCN1):c.181-12C>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952216	NM_000083.3(CLCN1):c.684C>T (p.Pro228=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2952029	NM_000083.3(CLCN1):c.219G>A (p.Glu73=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951917	NM_000083.3(CLCN1):c.324G>A (p.Gln108=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951911	NM_000083.3(CLCN1):c.854-9C>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951889	NM_000083.3(CLCN1):c.302-18T>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951694	NM_000083.3(CLCN1):c.2524del (p.Ser842fs)	CLCN1 (S842fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2951655	NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter)	CLCN1 (Y393*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2951603	NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)	CLCN1 (G551A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2951516	NM_000083.3(CLCN1):c.447C>T (p.Ser149=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951256	NM_000083.3(CLCN1):c.105G>C (p.Leu35=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951235	NM_000083.3(CLCN1):c.1166+10T>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951114	NM_000083.3(CLCN1):c.1359G>A (p.Arg453=)	CLCN1	Single nucleotide variant (synonymous variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951066	NM_000083.3(CLCN1):c.9A>G (p.Gln3=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2951007	NM_000083.3(CLCN1):c.1167-16T>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2950953	NM_000083.3(CLCN1):c.1252-1G>T	CLCN1	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 2950643	NM_000083.3(CLCN1):c.732T>C (p.Ala244=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2950601	NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)	CLCN1 (P478L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2950592	NM_000083.3(CLCN1):c.1788C>T (p.Asn596=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2950589	NM_000083.3(CLCN1):c.434-1G>A	CLCN1	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 2950456	NM_000083.3(CLCN1):c.498C>T (p.Thr166=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign

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