CTSA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 338513	NM_000308.3(CTSA):c.-322G>A	CTSA, NEURL2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 338514	NM_000308.3(CTSA):c.-292T>C	CTSA, NEURL2	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338515	NM_000308.3(CTSA):c.-271G>A	NEURL2, CTSA	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338516	NM_000308.3(CTSA):c.-238delC	CTSA, NEURL2	Deletion (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338517	NM_000308.3(CTSA):c.-237delT	CTSA, NEURL2	Deletion (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338518	NM_000308.3(CTSA):c.-234C>G	NEURL2, CTSA	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338519	NM_000308.3(CTSA):c.-223G>A	CTSA, NEURL2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 338520	NM_000308.3(CTSA):c.-172A>C	NEURL2, CTSA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 338521	NM_000308.3(CTSA):c.-52G>A	CTSA	Single nucleotide variant	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338522	NM_000308.3(CTSA):c.-43G>T	CTSA	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 2812371	NC_000020.11:g.45891331T>C	CTSA	Single nucleotide variant (synonymous variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1385575	NM_000308.4(CTSA):c.-43T>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338523	NM_000308.4(CTSA):c.-42C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1399016	NM_000308.4(CTSA):c.-41C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2880031	NM_000308.4(CTSA):c.-40C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2489458	NM_000308.4(CTSA):c.-36G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2801548	NM_000308.4(CTSA):c.-34G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2786303	NM_000308.4(CTSA):c.-34G>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2879289	NM_000308.4(CTSA):c.-31T>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2776816	NM_000308.4(CTSA):c.-28T>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1383954	NM_000308.4(CTSA):c.-18G>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 624193	NM_000308.4(CTSA):c.-17G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1498732	NM_000308.4(CTSA):c.-15C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1597717	NM_000308.4(CTSA):c.-13C>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1439063	NM_000308.4(CTSA):c.-12G>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2908017	NM_000308.4(CTSA):c.-10G>A	CTSA	Single nucleotide variant (non-coding transcript variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 657341	NM_000308.4(CTSA):c.-6G>A	CTSA (A17T)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1984622	NM_000308.4(CTSA):c.-2A>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1352093	NM_000308.4(CTSA):c.-1+6C>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2829525	NM_000308.4(CTSA):c.-1+7T>G	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1947966	NM_000308.4(CTSA):c.-1+7T>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2887209	NM_000308.4(CTSA):c.-1+9G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2730514	NM_000308.4(CTSA):c.-1+10C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2839910	NM_000308.4(CTSA):c.-1+12C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3009139	NM_000308.4(CTSA):c.-1+13C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2850427	NM_000308.4(CTSA):c.-1+16A>G	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2010363	NM_000308.4(CTSA):c.-1+18G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2723169	NM_000308.4(CTSA):c.1-18C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2880988	NM_000308.4(CTSA):c.1-11G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2869206	NM_000308.4(CTSA):c.1-7C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2878477	NM_000308.4(CTSA):c.1-6C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2168846	NM_000308.4(CTSA):c.1-4G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1456631	NM_000308.4(CTSA):c.1-2A>G	CTSA	Single nucleotide variant (splice acceptor variant)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 2112716	NM_000308.4(CTSA):c.1A>G (p.Met1Val)	CTSA (M1V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2701114	NM_000308.4(CTSA):c.6C>A (p.Ile2=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2748967	NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)	CTSA (P7fs)	Microsatellite (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 1444312	NM_000308.4(CTSA):c.11C>G (p.Ala4Gly)	CTSA (A4G)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2913827	NM_000308.4(CTSA):c.15G>A (p.Ala5=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2150851	NM_000308.4(CTSA):c.18G>T (p.Pro6=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2888905	NM_000308.4(CTSA):c.31_34del (p.Leu11fs)	CTSA (L11fs)	Deletion (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 1376309	NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup)	CTSA	Microsatellite (inframe_insertion +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1351603	NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup)	CTSA	Microsatellite (inframe_insertion +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 632780	NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)	CTSA	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1379276	NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del)	CTSA	Microsatellite (inframe_deletion +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1346626	NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del)	CTSA	Microsatellite (inframe_deletion +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 459631	NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)	CTSA	Microsatellite (inframe_deletion +1 more)	Combined deficiency of sialidase AND beta galactosidase	GBenign/Likely benign
Select item 210807	NM_000308.3(CTSA):c.85_110del26ins23	CTSA, LOC130065974	Indel	not specified	GUncertain significance
Select item 195059	NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)	CTSA (L19del)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GBenign
Select item 558863	NM_000308.4(CTSA):c.32_33del (p.Leu11fs)	CTSA (L11fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2004465	NM_000308.4(CTSA):c.42G>T (p.Leu14=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2825295	NM_000308.4(CTSA):c.44T>A (p.Leu15Gln)	CTSA (L15Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2573389	NM_000308.4(CTSA):c.51_52del (p.Leu18fs)	CTSA (L18fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 558864	NM_000308.4(CTSA):c.51del (p.Leu18fs)	CTSA (L18fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 266025	NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)	CTSA, LOC130065974 (L19del)	Indel (inframe_deletion +1 more)	Combined deficiency of sialidase AND beta galactosidase +1 more	GConflicting classifications of pathogenicity
Select item 2886861	NM_000308.4(CTSA):c.52C>T (p.Leu18=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1406362	NM_000308.4(CTSA):c.53T>G (p.Leu18Arg)	CTSA (L18R)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 558865	NM_000308.4(CTSA):c.53_54del (p.Leu18fs)	CTSA, LOC130065974 (L18fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 797035	NM_000308.4(CTSA):c.54G>T (p.Leu18=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 459632	NM_000308.4(CTSA):c.54G>C (p.Leu18=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase +1 more	GConflicting classifications of pathogenicity
Select item 1572689	NM_000308.4(CTSA):c.55_57del (p.Leu19del)	CTSA, LOC130065974 (L19del)	Deletion (inframe_deletion +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2122105	NM_000308.4(CTSA):c.57A>G (p.Leu19=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2705127	NM_000308.4(CTSA):c.60G>A (p.Val20=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 1098801	NM_000308.4(CTSA):c.60del (p.Ser21fs)	CTSA, LOC130065974 (S21fs)	Deletion (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 952093	NM_000308.4(CTSA):c.67G>A (p.Ala23Thr)	CTSA, LOC130065974 (A23T)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 3000118	NM_000308.4(CTSA):c.69G>T (p.Ala23=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 916463	NM_000308.4(CTSA):c.73C>T (p.Arg25Ter)	CTSA, LOC130065974 (R25*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1388738	NM_000308.4(CTSA):c.74G>A (p.Arg25Gln)	CTSA, LOC130065974 (R25Q)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1486490	NM_000308.4(CTSA):c.91G>A (p.Asp31Asn)	CTSA, LOC130065974 (D31N)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2841707	NM_000308.4(CTSA):c.94C>T (p.Gln32Ter)	CTSA, LOC130065974 (Q32*)	Single nucleotide variant (nonsense +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 1489315	NM_000308.4(CTSA):c.97G>A (p.Asp33Asn)	CTSA, LOC130065974 (D33N)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 3078741	NM_000308.4(CTSA):c.102G>C (p.Glu34Asp)	CTSA, LOC130065974 (E34D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 338524	NM_000308.4(CTSA):c.105C>T (p.Ile35=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1408753	NM_000308.4(CTSA):c.110G>C (p.Arg37Pro)	CTSA (R37P)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2790277	NM_000308.4(CTSA):c.111C>A (p.Arg37=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 981068	NM_000308.4(CTSA):c.112del (p.Leu38fs)	CTSA (L38fs)	Deletion (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic/Likely pathogenic
Select item 1590511	NM_000308.4(CTSA):c.114C>G (p.Leu38=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 569696	NM_000308.4(CTSA):c.115C>G (p.Pro39Ala)	CTSA (P57A +1 more)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 1452908	NM_000308.4(CTSA):c.130C>T (p.Gln44Ter)	CTSA (Q44*)	Single nucleotide variant (nonsense +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 2265015	NM_000308.4(CTSA):c.137C>T (p.Ser46Phe)	CTSA (S46F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2101801	NM_000308.4(CTSA):c.143del (p.Arg48fs)	CTSA (R48fs)	Deletion (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 377	NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)	CTSA (Q49R)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic/Likely pathogenic
Select item 1360146	NM_000308.4(CTSA):c.160C>T (p.Leu54Phe)	CTSA (L54F)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 3257194	NM_000308.4(CTSA):c.169T>G (p.Ser57Ala)	CTSA (S57A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2846056	NM_000308.4(CTSA):c.171C>A (p.Ser57=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2803726	NM_000308.4(CTSA):c.171C>T (p.Ser57=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2149155	NM_000308.4(CTSA):c.176C>T (p.Ser59Phe)	CTSA (S59F)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 2977232	NM_000308.4(CTSA):c.189C>T (p.His63=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign

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