Related gene-specific medical variations for Gene (Select 1509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375013	NM_001909.5(CTSD):c.205G>A (p.Glu69Lys)	CTSD, PRADX (E69K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3019320	NM_001909.5(CTSD):c.120G>A (p.Gly40=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3006011	NM_001909.5(CTSD):c.162G>A (p.Lys54=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2995516	NM_001909.5(CTSD):c.117T>C (p.Val39=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2919029	NM_001909.5(CTSD):c.69-19C>T	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2909217	NM_001909.5(CTSD):c.69-15A>G	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2892594	NM_001909.5(CTSD):c.69-1G>A	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2890218	NM_001909.5(CTSD):c.12C>T (p.Ser4=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2860536	NM_001909.5(CTSD):c.114G>A (p.Glu38=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2858529	NM_001909.5(CTSD):c.69-17del	CTSD, PRADX	Deletion (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GBenign
Select item 2855302	NM_001909.5(CTSD):c.207G>A (p.Glu69=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2852516	NM_001909.5(CTSD):c.165C>T (p.Tyr55=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2840415	NM_001909.5(CTSD):c.168C>G (p.Ser56=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2832674	NM_001909.5(CTSD):c.21G>C (p.Leu7=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2816316	NM_001909.5(CTSD):c.177G>A (p.Val59=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2745744	NM_001909.5(CTSD):c.228+8T>C	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2735411	NM_001909.5(CTSD):c.15C>T (p.Ser5=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2731750	NM_001909.5(CTSD):c.69-14C>T	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2717332	NM_001909.5(CTSD):c.192G>A (p.Glu64=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2701962	NM_001909.5(CTSD):c.69-18C>T	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2701881	NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)	CTSD, PRADX (E64*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2419916	NM_001909.5(CTSD):c.153del (p.Val52fs)	CTSD, PRADX (V52fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2194432	NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)	CTSD, PRADX (E44D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2194241	NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)	CTSD, LOC130005119 (P3R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2188717	NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)	CTSD, PRADX (R33C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2154561	NM_001909.5(CTSD):c.84G>A (p.Lys28=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2131237	NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)	CTSD, PRADX (A58E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2128428	NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)	CTSD, PRADX (L71F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2125030	NM_001909.5(CTSD):c.228+17A>G	PRADX, CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2104888	NM_001909.5(CTSD):c.106A>G (p.Met36Val)	CTSD, PRADX (M36V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2090484	NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)	CTSD, PRADX (S56P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2083460	NM_001909.5(CTSD):c.1A>G (p.Met1Val)	CTSD, LOC130005119 (M1V)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2048121	NM_001909.5(CTSD):c.98G>A (p.Arg33His)	CTSD, PRADX (R33H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2014802	NM_001909.5(CTSD):c.228+19C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2009997	NM_001909.5(CTSD):c.115G>C (p.Val39Leu)	CTSD, PRADX (V39L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2009761	NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)	CTSD, PRADX (K28E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2000275	NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)	CTSD, PRADX (Q57*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 1999299	NM_001909.5(CTSD):c.72C>G (p.Ile24Met)	CTSD, PRADX (I24M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1998438	NM_001909.5(CTSD):c.141T>C (p.Ile47=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1993604	NM_001909.5(CTSD):c.228+7A>T	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1968667	NM_001909.5(CTSD):c.115G>A (p.Val39Ile)	CTSD, PRADX (V39I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1961919	NM_001909.5(CTSD):c.204C>G (p.Pro68=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1931043	NM_001909.5(CTSD):c.8C>A (p.Pro3His)	CTSD, LOC130005119 (P3H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1922397	NM_001909.5(CTSD):c.94A>G (p.Ile32Val)	CTSD, PRADX (I32V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1794749	NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)	CTSD, PRADX (S37L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1790710	NM_001909.5(CTSD):c.23C>T (p.Pro8Leu)	CTSD, LOC130005119 (P8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1715829	NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)	CTSD, PRADX (E44K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1710759	NM_001909.5(CTSD):c.122G>T (p.Gly41Val)	CTSD, PRADX (G41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666530	NM_001909.5(CTSD):c.69-16G>C	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1612634	NM_001909.5(CTSD):c.69-11G>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1612251	NM_001909.5(CTSD):c.69-11G>C	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1601861	NM_001909.5(CTSD):c.228+14C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1547759	NM_001909.5(CTSD):c.150C>T (p.Gly50=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1532296	NM_001909.5(CTSD):c.105C>T (p.Thr35=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1528474	NM_001909.5(CTSD):c.189C>G (p.Thr63=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1511671	NM_001909.5(CTSD):c.228+1G>T	CTSD, PRADX	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1489005	NM_001909.5(CTSD):c.228+1G>A	CTSD, PRADX	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1442318	NM_001909.5(CTSD):c.133G>A (p.Asp45Asn)	CTSD, PRADX (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1439058	NM_001909.5(CTSD):c.152C>G (p.Pro51Arg)	CTSD, PRADX (P51R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1424779	NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)	CTSD, LOC130005119 (S5I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1423340	NM_001909.5(CTSD):c.161A>G (p.Lys54Arg)	CTSD, PRADX (K54R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1388861	NM_001909.5(CTSD):c.69-12C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1382321	NM_001909.5(CTSD):c.182C>T (p.Ala61Val)	CTSD, PRADX (A61V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1372517	NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)	CTSD, LOC130005119 (P8S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1322174	NM_001909.5(CTSD):c.17_30dup (p.Leu11fs)	CTSD (L11fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 10	GPathogenic
Select item 1295669	NM_001909.5(CTSD):c.228+133C>G	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277121	NM_001909.5(CTSD):c.69-63A>G	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214790	NM_001909.5(CTSD):c.69-53T>C	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197125	NM_001909.5(CTSD):c.69-277G>A	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191360	NM_001909.5(CTSD):c.69-48C>T	PRADX, CTSD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1148697	NM_001909.5(CTSD):c.195G>T (p.Gly65=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1142613	NM_001909.5(CTSD):c.204C>T (p.Pro68=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1141189	NM_001909.5(CTSD):c.183C>T (p.Ala61=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1097698	NM_001909.5(CTSD):c.19C>T (p.Leu7=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1062095	NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)	CTSD, LOC130005119 (L6F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 10 +1 more	GUncertain significance
Select item 1041020	NM_001909.5(CTSD):c.127G>C (p.Val43Leu)	CTSD, PRADX (V43L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 962818	NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)	CTSD, PRADX (K72R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 861285	NM_001909.5(CTSD):c.184G>T (p.Val62Leu)	PRADX, CTSD (V62L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 848648	NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)	CTSD, PRADX (P25S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 846978	NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)	CTSD, PRADX (I24F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 842834	NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)	CTSD, PRADX (E64Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 835152	NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)	CTSD, PRADX (P68L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 799688	NM_001909.5(CTSD):c.6G>A (p.Gln2=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 748582	NM_001909.5(CTSD):c.99C>G (p.Arg33=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 673756	NM_001909.5(CTSD):c.69-64C>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673486	NM_001909.5(CTSD):c.68+251G>C	CTSD, LOC130005118	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671128	NM_001909.5(CTSD):c.174G>A (p.Ala58=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 668391	NM_001909.5(CTSD):c.-6G>T	CTSD, LOC130005119	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 664342	NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)	CTSD, PRADX (A48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 658357	NM_001909.5(CTSD):c.223A>G (p.Met75Val)	CTSD, PRADX (M75V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 652296	NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)	CTSD, PRADX (P25L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 641902	NM_001909.5(CTSD):c.141T>G (p.Ile47Met)	CTSD, PRADX (I47M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 575391	NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)	CTSD, PRADX (E64K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 546437	NM_001909.5(CTSD):c.76C>A (p.Leu26Met)	CTSD, PRADX (L26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 527751	NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)	CTSD, PRADX (R34Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 527748	NM_001909.5(CTSD):c.111G>A (p.Ser37=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 517877	NM_001909.5(CTSD):c.-45A>G	CTSD, LOC130005119	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515813	NM_001909.5(CTSD):c.69-12C>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 509993	NM_001909.5(CTSD):c.-36G>C	CTSD, LOC130005119	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 457959	NM_001909.5(CTSD):c.19C>G (p.Leu7Val)	CTSD, LOC130005119 (L7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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