"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CTSA"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 1162856	NM_000308.4(CTSA):c.1035C>G (p.Tyr345Ter)	CTSA (Y345* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 338536	NM_000308.4(CTSA):c.1036G>A (p.Val346Met)	CTSA (V346M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338538	NM_000308.4(CTSA):c.1088+10C>T	CTSA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 558868	NM_000308.4(CTSA):c.1255-25G>T	CTSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1162857	NM_000308.4(CTSA):c.1306C>T (p.Gln436Ter)	CTSA (Q436* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 896026	NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)	CTSA (A448T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 558869	NM_000308.4(CTSA):c.1360-27C>T	CTSA	Single nucleotide variant (intron variant)	not provided	GLikely benign