C2936781[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359089	NM_000083.3(CLCN1):c.26G>A (p.Arg9His)	CLCN1 (R9H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
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 +4 more	GBenign/Likely benign
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 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 dominant form +2 more	GPathogenic
Select item 804705	NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)	CLCN1 (D94V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 447067	NM_000083.3(CLCN1):c.352= (p.Gly118=)	CLCN1	Single nucleotide variant (no sequence alteration +1 more)	Congenital myotonia, autosomal recessive form +2 more	GBenign
Select item 571653	NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)	CLCN1 (Y137D)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 804707	NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)	CLCN1 (Y137*)	Indel (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
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 +3 more	GConflicting classifications of pathogenicity
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 359099	NM_000083.3(CLCN1):c.450C>T (p.Tyr150=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 585690	NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)	CLCN1 (I172F)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 447068	NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)	CLCN1 (S183P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 995344	NM_000083.3(CLCN1):c.563-8G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity
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	GPathogenic/Likely pathogenic
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 21046	NM_000083.3(CLCN1):c.592C>G (p.Leu198Val)	CLCN1 (L198V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 585692	NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro)	CLCN1 (L198P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 359103	NM_000083.3(CLCN1):c.651C>T (p.Val217=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GBenign/Likely benign
Select item 1163875	NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)	CLCN1 (I227N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 17532	NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	CLCN1 (G230E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 447069	NC_000007.14:g.143323310del	CLCN1	Deletion	not provided +2 more	GPathogenic/Likely pathogenic
Select item 804708	NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)	CLCN1 (G233S)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 447070	NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)	CLCN1 (G255W)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 265646	NM_000083.3(CLCN1):c.774+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form +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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 447071	NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)	CLCN1 (C271R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 804710	NM_000083.3(CLCN1):c.823G>A (p.Val275Ile)	CLCN1 (V275I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 1807077	NM_000083.3(CLCN1):c.825C>T (p.Val275=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 447072	NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)	CLCN1 (G276S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 280100	NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1 (G285E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GPathogenic
Select item 17539	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	CLCN1 (I290M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 531747	NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)	CLCN1 (A298T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 447073	NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)	CLCN1 (V299L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 447074	NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)	CLCN1 (R300*)	Indel (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 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 dominant form +4 more	GConflicting classifications of pathogenicity
Select item 390519	NM_000083.3(CLCN1):c.900G>A (p.Arg300=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GBenign/Likely benign
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 447075	NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter)	CLCN1 (W303*)	Single nucleotide variant (nonsense +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 recessive 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)	Batten-Turner congenital myopathy +3 more	GPathogenic
Select item 21051	NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	CLCN1 (T310M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 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 dominant 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)	not provided +2 more	GPathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
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 1256108	NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)	CLCN1 (T335A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 21037	NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	CLCN1 (R338Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 447043	NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	CLCN1 (G355R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 585677	NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)	CLCN1 (G355E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 1807055	NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)	CLCN1 (V364I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 447044	NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu)	CLCN1 (V366L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 447045	NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)	CLCN1 (R377*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 804700	NM_000083.3(CLCN1):c.1166+5G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
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 17531	NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	CLCN1 (F413C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GPathogenic/Likely pathogenic
Select item 447048	NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)	CLCN1 (R421fs)	Duplication (frameshift variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 447047	NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)	CLCN1 (R421C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585678	NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)	CLCN1 (R421L)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 447049	NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	CLCN1 (R421H)	Single nucleotide variant (missense variant)	CLCN1-related disorder +3 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	GPathogenic/Likely pathogenic
Select item 570379	NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)	CLCN1 (W433R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 359109	NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr)	CLCN1 (A437T)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal dominant form +4 more	GBenign
Select item 1491327	NM_000083.3(CLCN1):c.1342G>A (p.Val448Met)	CLCN1 (V448M)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 585680	NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)	CLCN1 (K467E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 447050	NM_000083.3(CLCN1):c.1401+1G>T	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 359111	NM_000083.3(CLCN1):c.1402-9C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +4 more	GBenign
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	Smith-Lemli-Opitz syndrome +4 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 1070311	NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)	CLCN1 (F484L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 447052	NM_000083.3(CLCN1):c.1471+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	not provided +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	GPathogenic
Select item 418134	NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu)	CLCN1 (F494L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity
Select item 804702	NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly)	CLCN1 (D514G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	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 585682	NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)	CLCN1 (Y524C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 21040	NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	CLCN1 (A531V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 447053	NM_000083.3(CLCN1):c.1605C>T (p.Ala535=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 447054	NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)	CLCN1 (V536I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 447055	NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)	CLCN1 (T539fs)	Microsatellite (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 447056	NM_000083.3(CLCN1):c.1630G>A (p.Val544Met)	CLCN1 (V544M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
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 1299097	NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)	CLCN1 (A566V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 447057	NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)	CLCN1 (Q583R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 359113	NM_000083.3(CLCN1):c.1797-9C>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +4 more	GBenign
Select item 585685	NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)	CLCN1 (R611C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 +3 more	GBenign/Likely benign
Select item 1807092	NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)	CLCN1	Indel (inframe_indel +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 447058	NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)	CLCN1 (R626*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 840773	NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)	CLCN1 (S642*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 585686	NM_000083.3(CLCN1):c.1930+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
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 dominant form +2 more	GUncertain significance
Select item 447059	NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro)	CLCN1, LOC123956257 (Q675P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 422404	NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg)	LOC123956257, CLCN1	Insertion (inframe_indel +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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