"Revvity Omics, Revvity"[submitter] AND "CLCN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422402	NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys)	CLCN1 (Q13K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2110120	NM_000083.3(CLCN1):c.61dup (p.Gln21fs)	CLCN1 (Q21fs)	Duplication (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 531755	NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)	CLCN1 (R47W)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity
Select item 2069614	NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)	CLCN1 (R47Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 585684	NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)	CLCN1 (V56I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 289967	NM_000083.3(CLCN1):c.180+3A>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 2440097	NM_000083.3(CLCN1):c.194A>G (p.His65Arg)	CLCN1 (H65R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 804705	NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)	CLCN1 (D94V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 447066	NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)	CLCN1 (D101N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 577893	NM_000083.3(CLCN1):c.302-1G>A	CLCN1	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form +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 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 2440099	NM_000083.3(CLCN1):c.364G>C (p.Val122Leu)	CLCN1 (V122L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440106	NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr)	CLCN1 (D136Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1322088	NM_000083.3(CLCN1):c.410_411delinsGGA (p.Tyr137fs)	CLCN1 (Y137fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 585689	NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)	CLCN1 (V138I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GConflicting classifications of pathogenicity
Select item 2440107	NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn)	CLCN1 (K141N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 462844	NM_000083.3(CLCN1):c.434-2_434dup	CLCN1	Duplication (splice acceptor variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
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 1324085	NM_000083.3(CLCN1):c.494T>G (p.Val165Gly)	CLCN1 (V165G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 1062706	NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)	CLCN1 (L173F)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GUncertain significance
Select item 946402	NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp)	CLCN1 (A176D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 422168	NM_000083.3(CLCN1):c.544A>G (p.Ile182Val)	CLCN1 (I182V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
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 21045	NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)	CLCN1 (E193K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 2173119	NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)	CLCN1 (R199P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 661828	NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)	CLCN1 (V201I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 2440119	NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly)	CLCN1 (A211G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 531750	NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser)	CLCN1 (F212S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 2440101	NM_000083.3(CLCN1):c.638T>G (p.Val213Gly)	CLCN1 (V213G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 420147	NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr)	CLCN1 (A218T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2688788	NM_000083.3(CLCN1):c.662C>A (p.Ala221Glu)	CLCN1 (A221E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1000597	NM_000083.3(CLCN1):c.685G>A (p.Val229Met)	CLCN1 (V229M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 17532	NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	CLCN1 (G230E)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GPathogenic
Select item 1324086	NM_000083.3(CLCN1):c.697-1G>C	CLCN1	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form +2 more	GLikely pathogenic
Select item 1322089	NM_000083.3(CLCN1):c.697-1G>A	CLCN1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 641102	NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)	CLCN1 (V236L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 1070309	NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter)	CLCN1 (C242*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 620142	NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter)	CLCN1 (K248*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 531744	NM_000083.3(CLCN1):c.750G>A (p.Met250Ile)	CLCN1 (M250I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 265646	NM_000083.3(CLCN1):c.774+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Batten-Turner congenital myopathy +3 more	GPathogenic
Select item 522982	NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)	CLCN1 (P260L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 21047	NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)	CLCN1 (T268M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 571813	NM_000083.3(CLCN1):c.815C>T (p.Ala272Val)	CLCN1 (A272V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 447072	NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)	CLCN1 (G276S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GConflicting classifications of pathogenicity
Select item 1324084	NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg)	CLCN1 (C277R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 280100	NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1 (G285E)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +4 more	GPathogenic
Select item 17541	NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	CLCN1 (E291K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 2688789	NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe)	CLCN1 (S294F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 585695	NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)	CLCN1 (Y302C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 957128	NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu)	CLCN1 (F306L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 447076	NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)	CLCN1	Deletion (inframe_deletion +1 more)	Congenital myotonia, autosomal dominant form +3 more	GConflicting classifications of pathogenicity
Select item 21050	NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	CLCN1 (F307S)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +4 more	GPathogenic
Select item 21052	NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	CLCN1 (A313T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 447077	NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)	CLCN1 (R317*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 653796	NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)	CLCN1 (A320V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity
Select item 447078	NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)	CLCN1 (V327I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21037	NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	CLCN1 (R338Q)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1978026	NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)	CLCN1 (M339T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 585677	NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)	CLCN1 (G355E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 427153	NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)	CLCN1 (V366A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2440112	NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)	CLCN1 (R370C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2162661	NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)	CLCN1 (R370H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 447045	NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)	CLCN1 (R377*)	Single nucleotide variant (nonsense +1 more)	CLCN1-related disorder +3 more	GPathogenic
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 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 2440105	NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)	CLCN1 (S403L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500041	NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala)	CLCN1 (P408A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 1190716	NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)	CLCN1 (A415P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 447048	NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)	CLCN1 (R421fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1491598	NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys)	CLCN1 (E422K)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 1038555	NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser)	CLCN1 (L427S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1322087	NM_000083.3(CLCN1):c.1287del (p.Asp429fs)	CLCN1 (D429fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 585679	NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)	CLCN1 (T432R)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +1 more	GConflicting classifications of pathogenicity
Select item 2440118	NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser)	CLCN1 (G444S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440110	NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)	CLCN1 (Q445R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491327	NM_000083.3(CLCN1):c.1342G>A (p.Val448Met)	CLCN1 (V448M)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 1438442	NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe)	CLCN1 (I450F)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 420148	NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp)	CLCN1 (R453W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2688790	NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile)	CLCN1 (V454I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 585680	NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)	CLCN1 (K467E)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 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 dominant form +4 more	GPathogenic/Likely 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 565939	NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)	CLCN1 (G482E)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	Batten-Turner congenital myopathy +3 more	GConflicting classifications of pathogenicity
Select item 1322086	NM_000083.3(CLCN1):c.1457del (p.Pro486fs)	CLCN1 (P486fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 447052	NM_000083.3(CLCN1):c.1471+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 802379	NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)	CLCN1 (A493E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 17535	NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)	CLCN1 (R496S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GPathogenic
Select item 2440102	NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)	CLCN1 (Y517F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 983062	NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)	CLCN1 (G523V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440117	NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr)	CLCN1 (A531T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 21041	NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)	CLCN1 (I556N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 858667	NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser)	CLCN1 (P575S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2169816	NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)	CLCN1 (S576C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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