"Ambry Genetics"[submitter] AND "CTSF"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3078764	NM_003793.4(CTSF):c.1279T>C (p.Trp427Arg)	CTSF (W427R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 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 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 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 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 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 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 2313687	NM_003793.4(CTSF):c.965A>G (p.Glu322Gly)	CTSF (E322G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2224139	NM_003793.4(CTSF):c.856G>C (p.Val286Leu)	CTSF (V286L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720279	NM_003793.4(CTSF):c.780G>A (p.Lys260=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589811	NM_003793.4(CTSF):c.770C>T (p.Pro257Leu)	CTSF (P257L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259172	NM_003793.4(CTSF):c.762G>A (p.Arg254=)	CTSF	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 259171	NM_003793.4(CTSF):c.722-5C>T	CTSF	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign
Select item 589943	NM_003793.4(CTSF):c.715C>T (p.Leu239Phe)	CTSF (L239F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1756865	NM_003793.4(CTSF):c.704A>G (p.Lys235Arg)	CTSF (K235R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 424983	NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	CTSF (T228R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GConflicting classifications of pathogenicity
Select item 590161	NM_003793.4(CTSF):c.677G>A (p.Arg226His)	CTSF (R226H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588058	NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)	CTSF (R226C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 588283	NM_003793.4(CTSF):c.649C>T (p.Arg217Ter)	CTSF (R217*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1710803	NM_003793.4(CTSF):c.639T>A (p.Asn213Lys)	CTSF (N213K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1752651	NM_003793.4(CTSF):c.628G>A (p.Val210Ile)	CTSF (V210I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1751718	NM_003793.4(CTSF):c.611C>T (p.Ala204Val)	CTSF (A204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3078771	NM_003793.4(CTSF):c.586C>T (p.Arg196Trp)	CTSF (R196W)	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 3078770	NM_003793.4(CTSF):c.513T>G (p.Asn171Lys)	CTSF (N171K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743080	NM_003793.4(CTSF):c.478A>G (p.Asn160Asp)	CTSF (N160D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259170	NM_003793.4(CTSF):c.458A>G (p.Gln153Arg)	CTSF (Q153R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 587848	NM_003793.4(CTSF):c.418G>A (p.Ala140Thr)	CTSF (A140T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GBenign
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 1734839	NM_003793.4(CTSF):c.377C>T (p.Pro126Leu)	CTSF (P126L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590162	NM_003793.4(CTSF):c.362G>C (p.Arg121Pro)	CTSF (R121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1728633	NM_003793.4(CTSF):c.318C>T (p.Cys106=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1727435	NM_003793.4(CTSF):c.308C>T (p.Thr103Ile)	CTSF (T103I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588224	NM_003793.4(CTSF):c.302A>C (p.Lys101Thr)	CTSF (K101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3078768	NM_003793.4(CTSF):c.274C>A (p.Pro92Thr)	CTSF (P92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589013	NM_003793.4(CTSF):c.268A>C (p.Asn90His)	CTSF (N90H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588106	NM_003793.4(CTSF):c.246C>A (p.Ala82=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 259169	NM_003793.4(CTSF):c.219T>C (p.Gly73=)	CTSF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
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 1785369	NM_003793.4(CTSF):c.206T>G (p.Val69Gly)	CTSF (V69G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 588044	NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup)	CTSF	Duplication (inframe_insertion)	Neuronal ceroid lipofuscinosis 13 +2 more	GConflicting classifications of pathogenicity
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)	Neuronal ceroid lipofuscinosis 13 +1 more	GLikely benign
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 1777868	NM_003793.4(CTSF):c.167C>T (p.Ala56Val)	CTSF (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589113	NM_003793.4(CTSF):c.160C>G (p.Arg54Gly)	CTSF (R54G)	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
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 3270219	NM_003793.4(CTSF):c.135C>G (p.Phe45Leu)	CTSF (F45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 590130	NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)	CTSF (R44C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13 +2 more	GConflicting classifications of pathogenicity
Select item 259166	NM_003793.4(CTSF):c.126C>T (p.Pro42=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 587890	NM_003793.4(CTSF):c.104C>A (p.Pro35Gln)	CTSF (P35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710591	NM_003793.4(CTSF):c.103C>T (p.Pro35Ser)	CTSF (P35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 1749152	NM_003793.4(CTSF):c.56C>T (p.Ala19Val)	CTSF (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 585732	NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)	CTSF (L7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 94