"GeneDx"[submitter] AND "CAPN3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 674255	NM_000070.2(CAPN3):c.-641A>G	CAPN3	Single nucleotide variant	not provided	GLikely benign
Select item 674256	NM_000070.2(CAPN3):c.-614C>T	CAPN3	Single nucleotide variant	not provided	GLikely benign
Select item 679854	NM_000070.2(CAPN3):c.-408T>C	CAPN3	Single nucleotide variant	not provided	GBenign
Select item 1246204	NC_000015.10:g.42359484A>C	CAPN3	Single nucleotide variant	not provided	GBenign
Select item 315890	NM_000070.3(CAPN3):c.-104G>C	CAPN3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 510005	NM_000070.3(CAPN3):c.-25G>C	CAPN3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 653316	NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr)	CAPN3 (A7T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452616	NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro)	CAPN3 (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500229	NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)	CAPN3 (A14V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422846	NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)	CAPN3 (E16K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2576665	NM_000070.3(CAPN3):c.49C>T (p.Pro17Ser)	CAPN3 (P17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1069199	NM_000070.3(CAPN3):c.60del (p.Pro22fs)	CAPN3 (P22fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 92419	NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	CAPN3 (G21E)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +3 more	GConflicting classifications of pathogenicity
Select item 254876	NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	CAPN3 (H25Y)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128574	NM_000070.3(CAPN3):c.78G>A (p.Pro26=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 92422	NM_000070.3(CAPN3):c.96T>C (p.Thr32=)	CAPN3	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 217148	NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	CAPN3 (A45T)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 1315385	NM_000070.3(CAPN3):c.172G>A (p.Glu58Lys)	CAPN3 (E58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92411	NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)	CAPN3 (Y75fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 287449	NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	CAPN3 (P78T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282783	NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	CAPN3 (P82L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 254870	NM_000070.3(CAPN3):c.246G>A (p.Pro82=)	CAPN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 284122	NM_000070.3(CAPN3):c.258dup (p.Leu87fs)	CAPN3 (L87fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 680344	NM_000070.3(CAPN3):c.294C>G (p.Val98=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely benign
Select item 420000	NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu)	CAPN3 (P103L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 552569	NM_000070.3(CAPN3):c.309G>A (p.Pro103=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 389059	NM_000070.3(CAPN3):c.309+12C>T	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 677710	NM_000070.3(CAPN3):c.309+30_309+31insG	CAPN3	Insertion (intron variant)	not provided	GLikely benign
Select item 677711	NM_000070.3(CAPN3):c.309+32T>C	CAPN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214104	NM_000070.3(CAPN3):c.309+232A>G	CAPN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237556	NM_000070.3(CAPN3):c.309+268dup	CAPN3	Duplication (intron variant)	not provided	GBenign
Select item 1194403	NM_000070.3(CAPN3):c.309+267_309+268dup	CAPN3	Duplication (intron variant)	not provided	GLikely benign
Select item 1187546	NM_000070.3(CAPN3):c.309+268del	CAPN3	Deletion (intron variant)	not provided	GLikely benign
Select item 680083	NM_000070.3(CAPN3):c.310-244G>A	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677712	NM_000070.3(CAPN3):c.310-44A>G	CAPN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92416	NM_000070.3(CAPN3):c.318C>T (p.Cys106=)	CAPN3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 195011	NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)	CAPN3 (E107K)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GBenign/Likely benign
Select item 283107	NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	CAPN3 (I113T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1306094	NM_000070.3(CAPN3):c.368_370del (p.Gln123_Gly124delinsArg)	CAPN3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1315302	NM_000070.3(CAPN3):c.379+3A>G	CAPN3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 1211667	NM_000070.3(CAPN3):c.379+216G>C	CAPN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677713	NM_000070.3(CAPN3):c.380-235G>C	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298198	NM_000070.3(CAPN3):c.380-142T>C	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 254872	NM_000070.3(CAPN3):c.380-27C>T	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 498206	NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro)	CAPN3, LOC126862115 (L132P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 290335	NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)	CAPN3, LOC126862115 (A133V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 518130	NM_000070.3(CAPN3):c.468C>T (p.Ile156=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 92417	NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	CAPN3, LOC126862115 (A160G)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +3 more	GBenign/Likely benign
Select item 1695458	NM_000070.3(CAPN3):c.491A>C (p.His164Pro)	CAPN3, LOC126862115 (H164P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166785	NM_000070.3(CAPN3):c.495C>T (p.Phe165=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 254873	NM_000070.3(CAPN3):c.498+32A>C	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254874	NM_000070.3(CAPN3):c.498+35G>T	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GBenign
Select item 1292967	NM_000070.3(CAPN3):c.498+113G>T	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680084	NM_000070.3(CAPN3):c.498+126A>G	LOC126862115, CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210773	NM_000070.3(CAPN3):c.498+127T>C	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671685	NM_000070.3(CAPN3):c.498+329G>A	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678270	NM_000070.3(CAPN3):c.499-162T>C	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 254875	NM_000070.3(CAPN3):c.499-13C>T	CAPN3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 197103	NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GConflicting classifications of pathogenicity
Select item 884887	NM_000070.3(CAPN3):c.526G>A (p.Val176Met)	CAPN3 (V176M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 128572	NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)	CAPN3 (T184M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 512202	NM_000070.3(CAPN3):c.552G>A (p.Thr184=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92418	NM_000070.3(CAPN3):c.580del (p.Ser194fs)	CAPN3 (S194fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 197101	NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser)	CAPN3 (N195S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 315892	NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	CAPN3 (R197H)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 420001	NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)	CAPN3 (N198S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GConflicting classifications of pathogenicity
Select item 166786	NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	CAPN3	Deletion (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 128573	NM_000070.3(CAPN3):c.606T>C (p.Ser202=)	CAPN3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1245248	NM_000070.3(CAPN3):c.632+217T>A	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671686	NM_000070.3(CAPN3):c.632+263A>G	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678271	NM_000070.3(CAPN3):c.633-216C>T	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179357	NM_000070.3(CAPN3):c.633-138C>T	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177541	NM_000070.3(CAPN3):c.633-69G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 496915	NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	CAPN3 (G214S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 217159	NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	CAPN3	Deletion (inframe_deletion)	not provided +2 more	GPathogenic
Select item 3368552	NM_000070.3(CAPN3):c.683T>C (p.Met228Thr)	CAPN3 (M228T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92420	NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)	CAPN3 (A236T)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 524090	NM_000070.3(CAPN3):c.720dup (p.Ile241fs)	CAPN3 (I241fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 291126	NM_000070.3(CAPN3):c.721A>G (p.Ile241Val)	CAPN3 (I241V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 290267	NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)	CAPN3 (R242K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 419065	NM_000070.3(CAPN3):c.742_743del (p.Met248fs)	CAPN3 (M248fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555359	NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)	CAPN3 (M252T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 197624	NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	CAPN3 (K254del)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 513034	NM_000070.3(CAPN3):c.801+19G>A	CAPN3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1196273	NM_000070.3(CAPN3):c.802-270G>A	CAPN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295698	NM_000070.3(CAPN3):c.802-221G>A	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228127	NM_000070.3(CAPN3):c.802-120A>T	CAPN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280037	NM_000070.3(CAPN3):c.802-9G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 421264	NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys)	CAPN3 (N271K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1801193	NM_000070.3(CAPN3):c.839G>T (p.Gly280Val)	CAPN3 (G193V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803390	NM_000070.3(CAPN3):c.856T>G (p.Leu286Val)	CAPN3 (L199V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282646	NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	CAPN3 (R289W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 656153	NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln)	CAPN3 (R289Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 217160	NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)	CAPN3 (D295fs)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 281357	NM_000070.3(CAPN3):c.930T>C (p.Asp310=)	CAPN3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 282867	NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu)	CAPN3 (P313L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GUncertain significance
Select item 128575	NM_000070.3(CAPN3):c.939G>A (p.Pro313=)	CAPN3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign/Likely benign
Select item 387806	NM_000070.3(CAPN3):c.945+14C>T	CAPN3	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 508429	NM_000070.3(CAPN3):c.945+15G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity

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