ClinVar for Gene (Select 8722) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4847451	NM_003793.4(CTSF):c.1045+5G>T	CTSF	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 4823732	NM_003793.4(CTSF):c.81C>T (p.Ala27=)	CTSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4808411	NM_003793.4(CTSF):c.1322-19G>C	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4807325	NM_003793.4(CTSF):c.532G>A (p.Asp178Asn)	CTSF (D178N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 4803003	NM_003793.4(CTSF):c.964+9C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4801898	NM_003793.4(CTSF):c.867+7C>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4800474	NM_003793.4(CTSF):c.765A>G (p.Lys255=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4768848	NM_003793.4(CTSF):c.523C>T (p.Leu175=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4766875	NM_003793.4(CTSF):c.1391A>G (p.Tyr464Cys)	CTSF (Y464C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 4765938	NM_003793.4(CTSF):c.871_872del (p.Met291fs)	CTSF (M291fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 4755055	NM_003793.4(CTSF):c.721+6G>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 4754465	NM_003793.4(CTSF):c.213+10C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4751366	NM_003793.4(CTSF):c.867+16dup	CTSF	Duplication (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4750466	NM_003793.4(CTSF):c.213+9G>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4746307	NM_003793.4(CTSF):c.1380+14G>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4744936	NM_003793.4(CTSF):c.1051C>T (p.Leu351=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4744825	NM_003793.4(CTSF):c.964+11C>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4743831	NM_003793.4(CTSF):c.1231-16C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4741686	NM_003793.4(CTSF):c.1231-15C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4741223	NM_003793.4(CTSF):c.965-13T>C	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GBenign
Select item 4740044	NM_003793.4(CTSF):c.868-7C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4734539	NM_003793.4(CTSF):c.381G>A (p.Val127=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4732526	NM_003793.4(CTSF):c.1143G>C (p.Val381=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4730584	NM_003793.4(CTSF):c.486T>G (p.Thr162=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4724736	NM_003793.4(CTSF):c.375_382del (p.Pro126fs)	CTSF (P126fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 4723998	NM_003793.4(CTSF):c.213+9G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4719671	NM_003793.4(CTSF):c.1322-20C>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4708719	NM_003793.4(CTSF):c.57C>T (p.Ala19=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4706531	NM_003793.4(CTSF):c.1165+8_1165+9del	CTSF	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4705617	NM_003793.4(CTSF):c.215C>T (p.Ala72Val)	CTSF (A72V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 4700604	NM_003793.4(CTSF):c.390G>A (p.Lys130=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4697373	NM_003793.4(CTSF):c.1188G>A (p.Lys396=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4693922	NM_003793.4(CTSF):c.608-11T>G	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4693285	NM_003793.4(CTSF):c.721+12G>A	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GLikely benign
Select item 4683638	NM_003793.4(CTSF):c.1242C>T (p.His414=)	CTSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4616735	NM_003793.4(CTSF):c.128C>T (p.Thr43Ile)	CTSF (T43I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4616734	NM_003793.4(CTSF):c.733C>T (p.Arg245Cys)	CTSF (R245C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4616733	NM_003793.4(CTSF):c.663C>G (p.Ile221Met)	CTSF (I221M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4616732	NM_003793.4(CTSF):c.131G>A (p.Arg44His)	CTSF (R44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4527286	NM_003793.4(CTSF):c.106T>G (p.Ser36Ala)	CTSF (S36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4375157	NM_003793.4(CTSF):c.214-7T>G	CTSF	Single nucleotide variant (intron variant)	Not Specified
Select item 4375156	NM_003793.4(CTSF):c.313-5T>G	CTSF	Single nucleotide variant (intron variant)	Not Specified
Select item 4375155	NM_003793.4(CTSF):c.313-2A>G	CTSF	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4375154	NM_003793.4(CTSF):c.313-2A>T	CTSF	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4375153	NM_003793.4(CTSF):c.532-7T>A	CTSF	Single nucleotide variant (intron variant)	Not Specified
Select item 4375152	NM_003793.4(CTSF):c.608-37G>A	CTSF	Single nucleotide variant (intron variant)	Not Specified
Select item 4375151	NM_003793.4(CTSF):c.842G>T (p.Gly281Val)	CTSF (G281V)	Single nucleotide variant (missense variant)	Not Specified
Select item 4375150	NM_003793.4(CTSF):c.1166-11T>A	CTSF	Single nucleotide variant (intron variant)	Not Specified
Select item 4375149	NM_003793.4(CTSF):c.1309G>A (p.Gly437Ser)	CTSF (G437S)	Single nucleotide variant (missense variant)	Not Specified
Select item 4293328	NM_003793.4(CTSF):c.416C>A (p.Ser139Ter)	CTSF (S139*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 4283749	NM_003793.4(CTSF):c.1381-16del	CTSF	Deletion (intron variant)	Not Specified
Select item 4235864	NM_003793.4(CTSF):c.1116G>C (p.Lys372Asn)	CTSF (K372N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4235863	NM_003793.4(CTSF):c.287G>T (p.Arg96Leu)	CTSF (R96L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4235862	NM_003793.4(CTSF):c.293C>T (p.Pro98Leu)	CTSF (P98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4235861	NM_003793.4(CTSF):c.89A>T (p.Gln30Leu)	CTSF (Q30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 4235860	NM_003793.4(CTSF):c.265T>C (p.Cys89Arg)	CTSF (C89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4235859	NM_003793.4(CTSF):c.1238G>A (p.Arg413His)	CTSF (R413H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4235858	NM_003793.4(CTSF):c.82A>C (p.Ser28Arg)	CTSF (S28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 4235857	NM_003793.4(CTSF):c.356T>C (p.Leu119Pro)	CTSF (L119P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4235856	NM_003793.4(CTSF):c.182T>C (p.Val61Ala)	CTSF (V61A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4078428	NM_003793.4(CTSF):c.868-34C>T	CTSF	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 4072551	NM_003793.4(CTSF):c.1338T>G (p.Phe446Leu)	CTSF (F446L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4008168	NM_003793.4(CTSF):c.1276C>T (p.Pro426Ser)	CTSF (P426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4008167	NM_003793.4(CTSF):c.1214A>G (p.Asn405Ser)	CTSF (N405S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4008166	NM_003793.4(CTSF):c.529C>A (p.Gln177Lys)	CTSF (Q177K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3898902	NM_003793.4(CTSF):c.1381-2A>G	CTSF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 +1 more	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 +1 more	GConflicting classifications of pathogenicity
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 +1 more	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)	not provided +1 more	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

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