ClinVar for MedGen (Select 155852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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
Select item 2950433	NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter)	CLCN1 (Y261*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2950382	NM_000083.3(CLCN1):c.1166+15T>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2950094	NM_000083.3(CLCN1):c.980-8T>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2950076	NM_000083.3(CLCN1):c.379C>T (p.Leu127=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2950027	NM_000083.3(CLCN1):c.433+4G>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2949964	NM_000083.3(CLCN1):c.434-4G>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949895	NM_000083.3(CLCN1):c.1545C>T (p.Ile515=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949824	NM_000083.3(CLCN1):c.979+20G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949691	NM_000083.3(CLCN1):c.1881C>A (p.Thr627=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949485	NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)	CLCN1 (M410V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2949449	NM_000083.3(CLCN1):c.434-55_464del	CLCN1	Deletion (splice acceptor variant)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2949361	NM_000083.3(CLCN1):c.2166G>A (p.Lys722=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949345	NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)	CLCN1 (S139N)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2949286	NM_000083.3(CLCN1):c.2565G>A (p.Gly855=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949247	NM_000083.3(CLCN1):c.2509-9C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949223	NM_000083.3(CLCN1):c.930G>A (p.Thr310=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949198	NM_000083.3(CLCN1):c.2730T>C (p.Pro910=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2949049	NM_000083.3(CLCN1):c.193C>G (p.His65Asp)	CLCN1 (H65D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2948897	NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)	CLCN1 (V584D)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2948885	NM_000083.3(CLCN1):c.774+13C>G	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948827	NM_000083.3(CLCN1):c.1942C>T (p.Leu648=)	CLCN1, LOC123956257	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948814	NM_000083.3(CLCN1):c.853+19C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948804	NM_000083.3(CLCN1):c.36del (p.Glu12fs)	CLCN1 (E12fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2948802	NM_000083.3(CLCN1):c.775-16G>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948639	NM_000083.3(CLCN1):c.57C>T (p.Asp19=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948395	NM_000083.3(CLCN1):c.2862G>A (p.Leu954=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948357	NM_000083.3(CLCN1):c.549T>G (p.Ser183=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948353	NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)	CLCN1 (T833I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2948328	NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter)	CLCN1 (S892*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 2948287	NM_000083.3(CLCN1):c.853+14C>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948271	NM_000083.3(CLCN1):c.1770G>A (p.Leu590=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948247	NM_000083.3(CLCN1):c.1471+13G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948147	NM_000083.3(CLCN1):c.1233T>C (p.Gly411=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2948145	NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)	CLCN1 (A331G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2948125	NM_000083.3(CLCN1):c.2889A>G (p.Glu963=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2947956	NM_000083.3(CLCN1):c.1476T>C (p.Ala492=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2947708	NM_000083.3(CLCN1):c.1500A>G (p.Glu500=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2947424	NM_000083.3(CLCN1):c.1401+20C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2947398	NM_000083.3(CLCN1):c.2285-8C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2947249	NM_000083.3(CLCN1):c.1717C>T (p.Leu573=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign

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