"GeneDx"[submitter] AND "CTSA"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338513	NM_000308.3(CTSA):c.-322G>A	CTSA, NEURL2 +1 more	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase +1 more	GBenign
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 338522	NM_000308.3(CTSA):c.-43G>T	CTSA	Single nucleotide variant	Combined deficiency of sialidase AND beta galactosidase +1 more	GBenign/Likely benign
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 558865	NM_000308.4(CTSA):c.53_54del (p.Leu18fs)	CTSA, LOC130065974 (L18fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
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 620166	NM_000308.4(CTSA):c.195G>A (p.Trp65Ter)	CTSA (W65*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 338526	NM_000308.4(CTSA):c.219C>G (p.Pro73=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 898716	NM_000308.4(CTSA):c.444+14C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase +1 more	GBenign/Likely benign
Select item 1214769	NM_000308.4(CTSA):c.444+114T>C	CTSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800944	NM_000308.4(CTSA):c.601-2A>G	CTSA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1278040	NM_000308.4(CTSA):c.692+55A>G	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182576	NM_000308.4(CTSA):c.692+189dup	CTSA	Duplication (intron variant)	not provided	GBenign
Select item 683633	NM_000308.4(CTSA):c.693-33A>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase +1 more	GBenign
Select item 817909	NM_000308.4(CTSA):c.735del (p.Lys245fs)	CTSA (K245fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1303536	NM_000308.4(CTSA):c.744C>G (p.Phe248Leu)	CTSA (F248L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1268574	NM_000308.4(CTSA):c.777+91G>A	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683634	NM_000308.4(CTSA):c.777+242C>T	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197822	NM_000308.4(CTSA):c.778-155G>A	CTSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271286	NM_000308.4(CTSA):c.778-41T>C	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450085	NM_000308.4(CTSA):c.807C>G (p.Asn269Lys)	CTSA (N269K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 558867	NM_000308.4(CTSA):c.870-15del	CTSA	Deletion (intron variant)	not provided +1 more	GBenign
Select item 338535	NM_000308.4(CTSA):c.948+7G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase +2 more	GBenign
Select item 917637	NM_000308.4(CTSA):c.990dup (p.Cys331fs)	CTSA (C331fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 338538	NM_000308.4(CTSA):c.1088+10C>T	CTSA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1175515	NM_000308.4(CTSA):c.1089-236G>C	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260693	NM_000308.4(CTSA):c.1089-131del	CTSA	Deletion (intron variant)	not provided	GBenign
Select item 1230341	NM_000308.4(CTSA):c.1164+156A>C	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281151	NM_000308.4(CTSA):c.1165-284G>A	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228953	NM_000308.4(CTSA):c.1165-233G>A	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274492	NM_000308.4(CTSA):c.1255-57G>A	CTSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 558868	NM_000308.4(CTSA):c.1255-25G>T	CTSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 375	NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)	CTSA (F440V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 338540	NM_000308.4(CTSA):c.1353G>A (p.Thr451=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 671990	NM_000308.4(CTSA):c.1359+35G>A	CTSA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 558869	NM_000308.4(CTSA):c.1360-27C>T	CTSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3359955	NM_000308.4(CTSA):c.154G>A (p.Gly52Ser)	CTSA (G52S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 37