1476[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1952003	NM_005186.4(CAPN1):c.7GAG[1] (p.Glu4del)	CAPN1 (E4del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2978376	NM_005186.4(CAPN1):c.21G>A (p.Thr7=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2127796	NM_005186.4(CAPN1):c.24G>C (p.Pro8=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1942404	NM_005186.4(CAPN1):c.52G>T (p.Val18Leu)	CAPN1 (V18L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352010	NM_005186.4(CAPN1):c.64C>T (p.Arg22Trp)	CAPN1 (R22W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083694	NM_005186.4(CAPN1):c.68C>T (p.Ala23Val)	CAPN1 (A23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3263143	NM_005186.4(CAPN1):c.103A>T (p.Ile35Phe)	CAPN1 (I35F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137016	NM_005186.4(CAPN1):c.137G>A (p.Arg46Gln)	CAPN1 (G16R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137017	NM_005186.4(CAPN1):c.140T>C (p.Val47Ala)	CAPN1 (V47A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2048412	NM_005186.4(CAPN1):c.143G>A (p.Arg48Gln)	CAPN1 (D18N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 720350	NM_005186.4(CAPN1):c.159G>A (p.Gly53=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2298160	NM_005186.4(CAPN1):c.170G>A (p.Arg57His)	CAPN1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137021	NM_005186.4(CAPN1):c.174T>G (p.Asp58Glu)	CAPN1 (M28R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 746714	NM_005186.4(CAPN1):c.174T>C (p.Asp58=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1802257	NM_005186.4(CAPN1):c.181_182insC (p.Phe61fs)	CAPN1 (F61fs)	Insertion (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 817644	NM_005186.4(CAPN1):c.188dup (p.Val64fs)	CAPN1 (V64fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2886161	NM_005186.4(CAPN1):c.183C>T (p.Phe61=)	CAPN1 (S31F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1899664	NM_005186.4(CAPN1):c.188C>T (p.Pro63Leu)	CAPN1 (R33W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2984036	NM_005186.4(CAPN1):c.189G>A (p.Pro63=)	CAPN1 (R33Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2080717	NM_005186.4(CAPN1):c.189G>C (p.Pro63=)	CAPN1 (R33P)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2544665	NM_005186.4(CAPN1):c.200G>T (p.Ser67Ile)	CAPN1 (A37S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 781962	NM_005186.4(CAPN1):c.204G>C (p.Leu68=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1510947	NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp)	CAPN1 (G74D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2558254	NM_005186.4(CAPN1):c.224C>A (p.Pro75His)	CAPN1 (P45T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2000531	NM_005186.4(CAPN1):c.249C>G (p.Ile83Met)	CAPN1 (I83M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 986744	NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter)	CAPN1 (W85*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 1645668	NM_005186.4(CAPN1):c.264C>A (p.Pro88=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1325392	NM_005186.4(CAPN1):c.267+2T>C	CAPN1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 2416432	NM_005186.4(CAPN1):c.267+6A>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2696101	NM_005186.4(CAPN1):c.267+9G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012786	NM_005186.4(CAPN1):c.267+20G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235222	NM_005186.4(CAPN1):c.267+33A>G	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904351	NM_005186.4(CAPN1):c.268-12G>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1385628	NM_005186.4(CAPN1):c.302G>C (p.Gly101Ala)	CAPN1 (G101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720351	NM_005186.4(CAPN1):c.307A>G (p.Thr103Ala)	CAPN1 (T103A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1520489	NM_005186.4(CAPN1):c.311G>A (p.Arg104His)	CAPN1 (R104H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3026907	NM_005186.4(CAPN1):c.322T>C (p.Cys108Arg)	CAPN1 (C108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744927	NM_005186.4(CAPN1):c.337+10C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900690	NM_005186.4(CAPN1):c.337+15dup	CAPN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1989203	NM_005186.4(CAPN1):c.337+15C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923299	NM_005186.4(CAPN1):c.337+19G>A	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192611	NM_005186.4(CAPN1):c.338-102A>T	CAPN1	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 617483	NM_005186.4(CAPN1):c.338-1G>A	CAPN1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 1192612	NM_005186.4(CAPN1):c.363C>T (p.Ile121=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1653907	NM_005186.4(CAPN1):c.369C>T (p.Ser123=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1694639	NM_005186.4(CAPN1):c.381C>T (p.Asn127=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 225767	NM_005186.4(CAPN1):c.407del (p.Pro136fs)	CAPN1 (P136fs)	Deletion (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 1803480	NM_005186.4(CAPN1):c.407C>T (p.Pro136Leu)	CAPN1 (P136L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2622014	NM_005186.4(CAPN1):c.409C>T (p.His137Tyr)	CAPN1 (H83Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2042909	NM_005186.4(CAPN1):c.409C>A (p.His137Asn)	CAPN1 (H83N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2781288	NM_005186.4(CAPN1):c.411C>G (p.His137Gln)	CAPN1 (H83Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951018	NM_005186.4(CAPN1):c.411C>A (p.His137Gln)	CAPN1 (H137Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 987357	NM_005186.4(CAPN1):c.414_415insTATGCGGAACCATAGCTT (p.Gln139delinsTyrAlaGluProTer)	CAPN1	Insertion (nonsense +1 more)	not provided	GPathogenic
Select item 987358	NM_005186.4(CAPN1):c.416_417insTA (p.Gln139fs)	CAPN1 (Q139fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 987359	NM_005186.4(CAPN1):c.417_418insCTTCAT (p.Gln139_Ser140insLeuHis)	CAPN1	Insertion (inframe_insertion +1 more)	not provided	GPathogenic
Select item 2519709	NM_005186.4(CAPN1):c.419G>A (p.Ser140Asn)	CAPN1 (S86N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263145	NM_005186.4(CAPN1):c.436G>A (p.Ala146Thr)	CAPN1 (A146T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296761	NM_005186.4(CAPN1):c.440G>A (p.Gly147Asp)	CAPN1 (G93D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2096350	NM_005186.4(CAPN1):c.450T>C (p.His150=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749781	NM_005186.4(CAPN1):c.456+18del	CAPN1	Deletion (intron variant)	not provided	GBenign
Select item 1905803	NM_005186.4(CAPN1):c.457-13C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980485	NM_005186.4(CAPN1):c.457-6C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955192	NM_005186.4(CAPN1):c.457-5C>G	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626287	NM_005186.4(CAPN1):c.457-5C>A	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710004	NM_005186.4(CAPN1):c.483C>T (p.Asp161=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2252240	NM_005186.4(CAPN1):c.484G>C (p.Val162Leu)	CAPN1 (V108L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3058360	NM_005186.4(CAPN1):c.489C>G (p.Val163=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	CAPN1-related disorder	GLikely benign
Select item 1597055	NM_005186.4(CAPN1):c.517G>A (p.Gly173Arg)	CAPN1 (G173R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 711379	NM_005186.4(CAPN1):c.519G>A (p.Gly173=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1333654	NM_005186.4(CAPN1):c.532_558del (p.Val178_Phe186del)	CAPN1	Deletion (inframe_deletion +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 722547	NM_005186.4(CAPN1):c.531C>T (p.Phe177=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418190	NM_005186.4(CAPN1):c.532G>T (p.Val178Leu)	CAPN1 (V124L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2398289	NM_005186.4(CAPN1):c.532G>A (p.Val178Met)	CAPN1 (V124M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1947030	NM_005186.4(CAPN1):c.542C>T (p.Ala181Val)	CAPN1 (A127V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357283	NM_005186.4(CAPN1):c.552C>T (p.Asn184=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	CAPN1-related disorder	GLikely benign
Select item 2100184	NM_005186.4(CAPN1):c.553G>A (p.Glu185Lys)	CAPN1 (E131K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994555	NM_005186.4(CAPN1):c.554A>G (p.Glu185Gly)	CAPN1 (E131G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009978	NM_005186.4(CAPN1):c.590+3G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2803244	NM_005186.4(CAPN1):c.591-17C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755074	NM_005186.4(CAPN1):c.606C>T (p.Tyr202=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911860	NM_005186.4(CAPN1):c.615G>A (p.Leu205=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 987360	NM_005186.4(CAPN1):c.616_620del (p.Ser206fs)	CAPN1 (S206fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 802686	NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)	CAPN1 (G208fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2160451	NM_005186.4(CAPN1):c.621G>T (p.Gly207=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1484696	NM_005186.4(CAPN1):c.622G>T (p.Gly208Cys)	CAPN1 (G208C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 986745	NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp)	CAPN1 (G208D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 1678075	NM_005186.4(CAPN1):c.659_667delinsCAAGTGGGTACCACAGGCGCAAC (p.Gly220fs)	CAPN1 (G220fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2584813	NM_005186.4(CAPN1):c.667G>T (p.Glu223Ter)	CAPN1 (E169* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GLikely pathogenic
Select item 1984774	NM_005186.4(CAPN1):c.667G>A (p.Glu223Lys)	CAPN1 (E169K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1436890	NM_005186.4(CAPN1):c.671G>A (p.Trp224Ter)	CAPN1 (W224*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2272474	NM_005186.4(CAPN1):c.673T>C (p.Tyr225His)	CAPN1 (Y225H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2970685	NM_005186.4(CAPN1):c.675C>T (p.Tyr225=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607348	NM_005186.4(CAPN1):c.682C>T (p.Arg228Cys)	CAPN1 (R228C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2088292	NM_005186.4(CAPN1):c.708G>T (p.Gln236His)	CAPN1 (Q182H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736379	NM_005186.4(CAPN1):c.723G>A (p.Ala241=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2466872	NM_005186.4(CAPN1):c.728A>C (p.Glu243Ala)	CAPN1 (E243A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1981087	NM_005186.4(CAPN1):c.734G>T (p.Gly245Val)	CAPN1 (G245V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1646777	NM_005186.4(CAPN1):c.759C>T (p.Asp253=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 987432	NM_005186.4(CAPN1):c.759+1G>A	CAPN1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 987184	NM_005186.4(CAPN1):c.759+1G>T	CAPN1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

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