CTSF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 1289607	NM_003793.4(CTSF):c.*235G>A	CTSF	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1185770	NM_003793.4(CTSF):c.216_218del	CTSF	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1163926	NM_003793.4(CTSF):c.1450G>C (p.Asp484His)	CTSF (D484H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703290	NM_003793.4(CTSF):c.1444G>A (p.Val482Met)	CTSF (V482M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1772728	NM_003793.4(CTSF):c.1442C>T (p.Ala481Val)	CTSF (A481V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1772397	NM_003793.4(CTSF):c.1427C>G (p.Thr476Ser)	CTSF (T476S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772108	NM_003793.4(CTSF):c.1414T>A (p.Cys472Ser)	CTSF (C472S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300491	NM_003793.4(CTSF):c.1408G>A (p.Gly470Arg)	CTSF (G470R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1771688	NM_003793.4(CTSF):c.1399_1401delinsTGC (p.Arg467Cys)	CTSF (R467C)	Indel (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259168	NM_003793.4(CTSF):c.1401T>C (p.Arg467=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 2044506	NM_003793.4(CTSF):c.1380+19del	CTSF	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
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 3078766	NM_003793.4(CTSF):c.1375G>A (p.Glu459Lys)	CTSF (E459K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 60676	NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)	CTSF (G458A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 1331400	NM_003793.4(CTSF):c.1370G>A (p.Trp457Ter)	CTSF (W457*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 259167	NM_003793.4(CTSF):c.1368C>T (p.Asp456=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1310328	NM_003793.4(CTSF):c.1363A>G (p.Thr455Ala)	CTSF (T455A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192267	NM_003793.4(CTSF):c.1358G>A (p.Trp453Ter)	CTSF (W453*)	Single nucleotide variant (nonsense)	not specified	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 1310919	NM_003793.4(CTSF):c.1349A>G (p.Lys450Arg)	CTSF (K450R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1770138	NM_003793.4(CTSF):c.1330G>A (p.Val444Ile)	CTSF (V444I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 739506	NM_003793.4(CTSF):c.1329C>T (p.Asp443=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1310645	NM_003793.4(CTSF):c.1322-5C>A	CTSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 1198904	NM_003793.4(CTSF):c.1322-95T>C	CTSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193150	NM_003793.4(CTSF):c.1322-105T>G	CTSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 724103	NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)	CTSF (R441C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GBenign
Select item 1213208	NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)	CTSF (G439S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GUncertain significance
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 2720703	NM_003793.4(CTSF):c.1296G>A (p.Ala432=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	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 3342994	NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)	CTSF (L428P)	Single nucleotide variant (missense variant)	not provided	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 1690935	NM_003793.4(CTSF):c.1272C>A (p.Cys424Ter)	CTSF (C424*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
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 590175	NM_003793.4(CTSF):c.1263G>T (p.Arg421=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 376976	NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)	CTSF (R421W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GBenign/Likely benign
Select item 587775	NM_003793.4(CTSF):c.1253G>A (p.Arg418His)	CTSF (R418H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GConflicting classifications of pathogenicity
Select item 585731	NM_003793.4(CTSF):c.1252C>T (p.Arg418Cys)	CTSF (R418C)	Single nucleotide variant (missense variant)	not provided	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 1506941	NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg)	CTSF (G415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 2819281	NM_003793.4(CTSF):c.1231-13_1231-11del	CTSF	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely 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 1205194	NM_003793.4(CTSF):c.1231-27G>A	CTSF	Single nucleotide variant (intron variant)	not provided	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 1624687	NM_003793.4(CTSF):c.1218C>T (p.Ala406=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
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 1204761	NM_003793.4(CTSF):c.1204G>A (p.Val402Met)	CTSF (V402M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715824	NM_003793.4(CTSF):c.1203C>T (p.Ser401=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 722136	NM_003793.4(CTSF):c.1182G>A (p.Leu394=)	CTSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2101778	NM_003793.4(CTSF):c.1166-7A>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 259165	NM_003793.4(CTSF):c.1166-10C>T	CTSF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1064840	NM_003793.4(CTSF):c.1159G>A (p.Glu387Lys)	CTSF (E387K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1194880	NM_003793.4(CTSF):c.1140C>T (p.Ser380=)	CTSF	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 590083	NM_003793.4(CTSF):c.1137C>A (p.Asp379Glu)	CTSF (D379E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 285170	NM_003793.4(CTSF):c.1133A>G (p.Asn378Ser)	CTSF (N378S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2691546	NM_003793.4(CTSF):c.1119dup (p.Lys374fs)	CTSF (K374fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
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 3078763	NM_003793.4(CTSF):c.1087A>G (p.Met363Val)	CTSF (M363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 735369	NM_003793.4(CTSF):c.1059A>G (p.Thr353=)	CTSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343190	NM_003793.4(CTSF):c.1048G>T (p.Gly350Trp)	CTSF (G350W)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 265519	NM_003793.4(CTSF):c.1046-2A>C	CTSF	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1197405	NM_003793.4(CTSF):c.1046-10C>T	CTSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290217	NM_003793.4(CTSF):c.1046-275G>C	CTSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217024	NM_003793.4(CTSF):c.1045+286A>G	CTSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222574	NM_003793.4(CTSF):c.1045+70G>T	CTSF	Single nucleotide variant (intron variant)	not provided	GBenign
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 589888	NM_003793.4(CTSF):c.1033A>C (p.Ile345Leu)	CTSF (I345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771544	NM_003793.4(CTSF):c.1032C>T (p.Ala344=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 588515	NM_003793.4(CTSF):c.1026C>T (p.Tyr342=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GLikely benign
Select item 1691433	NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs)	CTSF (K331fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 2857442	NM_003793.4(CTSF):c.992del (p.Lys331fs)	CTSF (K331fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
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 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 3373769	NM_003793.4(CTSF):c.971T>C (p.Leu324Ser)	CTSF (L324S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2572494	NM_003793.4(CTSF):c.965-1G>A	CTSF	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 60675	NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	CTSF (Q321R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
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 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 60679	NM_003793.4(CTSF):c.954del (p.Ser319fs)	CTSF (S319fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 585733	NM_003793.4(CTSF):c.952C>T (p.Leu318Phe)	CTSF (L318F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259173	NM_003793.4(CTSF):c.939G>A (p.Gly313=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1913600	NM_003793.4(CTSF):c.933C>T (p.Asn311=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign

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