ClinVar for MedGen (Select 811566) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067847	NM_003793.4(CTSF):c.95G>A (p.Trp32Ter)	CTSF (W32*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 3018158	NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)	CTSF (Q222*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 2915366	NM_003793.4(CTSF):c.1380+13G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2857442	NM_003793.4(CTSF):c.992del (p.Lys331fs)	CTSF (K331fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 2819281	NM_003793.4(CTSF):c.1231-13_1231-11del	CTSF	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2781895	NM_003793.4(CTSF):c.867+8C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2741860	NM_003793.4(CTSF):c.1322-14G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2739589	NM_003793.4(CTSF):c.342C>G (p.Leu114=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2738429	NM_003793.4(CTSF):c.722-4G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2733734	NM_003793.4(CTSF):c.450T>C (p.Ser150=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2720703	NM_003793.4(CTSF):c.1296G>A (p.Ala432=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2713142	NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely benign
Select item 2572494	NM_003793.4(CTSF):c.965-1G>A	CTSF	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 2572017	NM_003793.4(CTSF):c.1211T>C (p.Ile404Thr)	CTSF (I404T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	Gnot provided
Select item 2440612	NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)	CTSF (A392V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2430254	NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)	CTSF (R467C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2430253	NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)	CTSF (Y357H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2417211	NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)	CTSF (Y198*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 2415199	NM_003793.4(CTSF):c.1321+9C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2201564	NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)	CTSF	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2164676	NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)	CTSF (I400V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2141538	NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)	CTSF (A22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2111781	NM_003793.4(CTSF):c.258G>A (p.Glu86=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2101778	NM_003793.4(CTSF):c.1166-7A>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2097195	NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)	CTSF (W296C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2082232	NM_003793.4(CTSF):c.42C>G (p.Leu14=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2070779	NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)	CTSF (N158S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2044506	NM_003793.4(CTSF):c.1380+19del	CTSF	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 2011036	NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)	CTSF (L423F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1996903	NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)	CTSF (P37A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1990582	NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)	CTSF (F45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1978417	NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)	CTSF (S319F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1967439	NM_003793.4(CTSF):c.280G>A (p.Val94Met)	CTSF (V94M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1937095	NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)	CTSF (A26P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1913600	NM_003793.4(CTSF):c.933C>T (p.Asn311=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 1785369	NM_003793.4(CTSF):c.206T>G (p.Val69Gly)	CTSF (V69G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GUncertain significance
Select item 1778727	NM_003793.4(CTSF):c.171G>C (p.Gly57=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1768011	NM_003793.4(CTSF):c.972G>A (p.Leu324=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely benign
Select item 1718673	NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)	CTSF (I429V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1668347	NM_003793.4(CTSF):c.868-17C>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 1631933	NM_003793.4(CTSF):c.1230+14C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 1627835	NM_003793.4(CTSF):c.213+7A>T	CTSF	Single nucleotide variant (intron variant)	CTSF-related condition +1 more	GLikely benign
Select item 1624687	NM_003793.4(CTSF):c.1218C>T (p.Ala406=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 1587913	NM_003793.4(CTSF):c.213+20G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 1506941	NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg)	CTSF (G415R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GUncertain significance
Select item 1491051	NM_003793.4(CTSF):c.722-3C>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1484889	NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu)	CTSF (S343L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1483889	NM_003793.4(CTSF):c.988G>A (p.Asp330Asn)	CTSF (D330N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1382735	NM_003793.4(CTSF):c.160C>A (p.Arg54=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GConflicting classifications of pathogenicity
Select item 1324193	NM_003793.4(CTSF):c.530_531+11del	CTSF	Deletion (splice donor variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 1324192	NM_003793.4(CTSF):c.1045+1G>T	CTSF	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely pathogenic
Select item 1312809	NM_003793.4(CTSF):c.587G>A (p.Arg196Gln)	CTSF (R196Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GUncertain significance
Select item 1305235	NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser)	CTSF (N367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1216529	NM_003793.4(CTSF):c.1322-19G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GBenign/Likely benign
Select item 1215052	NM_003793.4(CTSF):c.1231-13T>C	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GBenign/Likely benign
Select item 1213208	NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)	CTSF (G439S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1189861	NM_003793.4(CTSF):c.613C>T (p.Arg205Trp)	CTSF (R205W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1186790	NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys)	CTSF (R413C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1167443	NM_003793.4(CTSF):c.45G>T (p.Pro15=)	CTSF	Single nucleotide variant (synonymous variant)	CTSF-related condition +1 more	GBenign/Likely benign
Select item 935571	NM_003793.4(CTSF):c.955T>G (p.Ser319Ala)	CTSF (S319A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 807589	NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)	CTSF (I416T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 790999	NM_003793.4(CTSF):c.351C>T (p.His117=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 790998	NM_003793.4(CTSF):c.810C>T (p.Leu270=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely benign
Select item 775294	NM_003793.4(CTSF):c.597G>A (p.Glu199=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 727354	NM_003793.4(CTSF):c.1140C>G (p.Ser380=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724858	NM_003793.4(CTSF):c.1407C>T (p.Ser469=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 724103	NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)	CTSF (R441C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GBenign
Select item 720279	NM_003793.4(CTSF):c.780G>A (p.Lys260=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GLikely benign
Select item 715824	NM_003793.4(CTSF):c.1203C>T (p.Ser401=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 710694	NM_003793.4(CTSF):c.614G>T (p.Arg205Leu)	CTSF (R205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 663170	NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)	CTSF (R205Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GConflicting classifications of pathogenicity
Select item 590130	NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)	CTSF (R44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 588515	NM_003793.4(CTSF):c.1026C>T (p.Tyr342=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 588106	NM_003793.4(CTSF):c.246C>A (p.Ala82=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely benign
Select item 588058	NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)	CTSF (R226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 588044	NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup)	CTSF	Duplication (inframe_insertion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 587848	NM_003793.4(CTSF):c.418G>A (p.Ala140Thr)	CTSF (A140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 587844	NM_003793.4(CTSF):c.1158C>T (p.Asn386=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 587775	NM_003793.4(CTSF):c.1253G>A (p.Arg418His)	CTSF (R418H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 585732	NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)	CTSF (L7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 580946	NM_003793.4(CTSF):c.1350del (p.Asn451fs)	CTSF (N451fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 558828	NM_003793.4(CTSF):c.214-6C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely benign
Select item 434869	NM_003793.4(CTSF):c.843_844del (p.Ala282fs)	CTSF (A282fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 424983	NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	CTSF (T228R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376976	NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)	CTSF (R421W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 265519	NM_003793.4(CTSF):c.1046-2A>C	CTSF	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 259173	NM_003793.4(CTSF):c.939G>A (p.Gly313=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +3 more	GBenign/Likely benign
Select item 259172	NM_003793.4(CTSF):c.762G>A (p.Arg254=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 259171	NM_003793.4(CTSF):c.722-5C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13 +3 more	GBenign
Select item 259170	NM_003793.4(CTSF):c.458A>G (p.Gln153Arg)	CTSF (Q153R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259169	NM_003793.4(CTSF):c.219T>C (p.Gly73=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 259168	NM_003793.4(CTSF):c.1401T>C (p.Arg467=)	CTSF	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259167	NM_003793.4(CTSF):c.1368C>T (p.Asp456=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +3 more	GBenign/Likely benign
Select item 259166	NM_003793.4(CTSF):c.126C>T (p.Pro42=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +3 more	GBenign
Select item 208844	NM_003793.4(CTSF):c.213+1G>C	CTSF	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 60679	NM_003793.4(CTSF):c.954del (p.Ser319fs)	CTSF (S319fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 60678	NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)	CTSF (Y231C)	Single nucleotide variant (missense variant)	CTSF-related condition	GUncertain significance
Select item 60677	NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	CTSF (S480L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 60676	NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)	CTSF (G458A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 60675	NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	CTSF (Q321R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic

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Items: 100