ClinVar for Gene (Select 8722) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 271

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893482	NM_003793.4(CTSF):c.211C>T (p.Arg71Trp)	CTSF (R71W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3837331	NM_003793.4(CTSF):c.1109C>G (p.Ala370Gly)	CTSF (A370G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3837330	NM_003793.4(CTSF):c.650G>A (p.Arg217Gln)	CTSF (R217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3837329	NM_003793.4(CTSF):c.1195C>G (p.Pro399Ala)	CTSF (P399A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3837328	NM_003793.4(CTSF):c.14T>C (p.Leu5Pro)	CTSF (L5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3837327	NM_003793.4(CTSF):c.289C>T (p.Leu97Phe)	CTSF (L97F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3774809	NM_003793.4(CTSF):c.1334C>T (p.Pro445Leu)	CTSF (P445L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3770517	NM_003793.4(CTSF):c.1322-49G>T	CTSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3767686	NM_003793.4(CTSF):c.301A>G (p.Lys101Glu)	CTSF (K101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3726907	NM_003793.4(CTSF):c.1045+4T>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 3711871	NM_003793.4(CTSF):c.329_347del (p.Val110fs)	CTSF (V110fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 3691050	NM_003793.4(CTSF):c.213+2T>A	CTSF	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 3687925	NM_003793.4(CTSF):c.15G>T (p.Leu5=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 3682006	NM_003793.4(CTSF):c.186G>A (p.Leu62=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 3669810	NM_003793.4(CTSF):c.261A>G (p.Pro87=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 3631924	NM_003793.4(CTSF):c.269A>G (p.Asn90Ser)	CTSF (N90S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 3612497	NM_003793.4(CTSF):c.531+15G>C	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 3600137	NM_003793.4(CTSF):c.934C>T (p.Gln312Ter)	CTSF (Q312*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 3600135	NM_003793.4(CTSF):c.1165+2T>G	CTSF	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 3600134	NM_003793.4(CTSF):c.1171del (p.Ala391fs)	CTSF (A391fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 3600133	NM_003793.4(CTSF):c.1267_1277dup (p.Trp427fs)	CTSF (W427fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 3498454	NM_003793.4(CTSF):c.1141G>A (p.Val381Met)	CTSF (V381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393247	NM_003793.4(CTSF):c.1316del (p.Gly439fs)	CTSF (G439fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 3373769	NM_003793.4(CTSF):c.971T>C (p.Leu324Ser)	CTSF (L324S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3366554	NM_003793.4(CTSF):c.593_594del (p.Thr197_Tyr198insTer)	CTSF	Microsatellite (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3365285	NM_003793.4(CTSF):c.208C>T (p.Arg70Cys)	CTSF (R70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359606	NM_003793.4(CTSF):c.1379A>T (p.Lys460Met)	CTSF (K460M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342994	NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)	CTSF (L428P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GUncertain significance
Select item 3270220	NM_003793.4(CTSF):c.313C>G (p.Leu105Val)	CTSF (L105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270219	NM_003793.4(CTSF):c.135C>G (p.Phe45Leu)	CTSF (F45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078772	NM_003793.4(CTSF):c.739A>G (p.Ile247Val)	CTSF (I247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078771	NM_003793.4(CTSF):c.586C>T (p.Arg196Trp)	CTSF (R196W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078770	NM_003793.4(CTSF):c.513T>G (p.Asn171Lys)	CTSF (N171K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078769	NM_003793.4(CTSF):c.400G>C (p.Ala134Pro)	CTSF (A134P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078768	NM_003793.4(CTSF):c.274C>A (p.Pro92Thr)	CTSF (P92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078767	NM_003793.4(CTSF):c.217G>A (p.Gly73Ser)	CTSF (G73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078766	NM_003793.4(CTSF):c.1375G>A (p.Glu459Lys)	CTSF (E459K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078764	NM_003793.4(CTSF):c.1279T>C (p.Trp427Arg)	CTSF (W427R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078763	NM_003793.4(CTSF):c.1087A>G (p.Met363Val)	CTSF (M363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3037581	NM_003793.4(CTSF):c.420C>T (p.Ala140=)	CTSF	Single nucleotide variant (synonymous variant)	CTSF-related disorder	GLikely benign
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 +1 more	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	GLikely benign
Select item 2691546	NM_003793.4(CTSF):c.1119dup (p.Lys374fs)	CTSF (K374fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FAM89B, PPP2R5B +362 more	Copy number gain	not provided	GPathogenic
Select item 2662567	NM_003793.4(CTSF):c.80C>T (p.Ala27Val)	CTSF (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641996	NM_003793.4(CTSF):c.888G>A (p.Trp296Ter)	CTSF (W296*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2631005	NM_003793.4(CTSF):c.693T>A (p.Tyr231Ter)	CTSF (Y231*)	Single nucleotide variant (nonsense)	CTSF-related disorder	GLikely pathogenic
Select item 2577817	NM_003793.4(CTSF):c.1262G>A (p.Arg421Gln)	CTSF (R421Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2521854	NM_003793.4(CTSF):c.53T>C (p.Val18Ala)	CTSF (V18A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517532	NM_003793.4(CTSF):c.1373G>A (p.Gly458Asp)	CTSF (G458D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488627	NM_003793.4(CTSF):c.96G>C (p.Trp32Cys)	CTSF (W32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474708	NM_003793.4(CTSF):c.136G>C (p.Ala46Pro)	CTSF (A46P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	FADD-related immunodeficiency +1 more	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 2339194	NM_003793.4(CTSF):c.122C>G (p.Ala41Gly)	CTSF (A41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2313687	NM_003793.4(CTSF):c.965A>G (p.Glu322Gly)	CTSF (E322G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296766	NM_003793.4(CTSF):c.169G>A (p.Gly57Arg)	CTSF (G57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241187	NM_003793.4(CTSF):c.527C>A (p.Ser176Tyr)	CTSF (S176Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224139	NM_003793.4(CTSF):c.856G>C (p.Val286Leu)	CTSF (V286L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +2 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)	Neuronal ceroid lipofuscinosis 13 +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)	Neuronal ceroid lipofuscinosis 13 +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 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	MRPL11, NPAS4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1804750	NM_003793.4(CTSF):c.105_129del (p.Ser36fs)	CTSF (S36fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1785369	NM_003793.4(CTSF):c.206T>G (p.Val69Gly)	CTSF (V69G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1780330	NM_003793.4(CTSF):c.179C>T (p.Ala60Val)	CTSF (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779955	NM_003793.4(CTSF):c.177G>A (p.Arg59=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1777868	NM_003793.4(CTSF):c.167C>T (p.Ala56Val)	CTSF (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775669	NM_003793.4(CTSF):c.157G>T (p.Gly53Cys)	CTSF (G53C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3