LOC130065974[gene] - ClinVar

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Items: 20

	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 210807	NM_000308.3(CTSA):c.85_110del26ins23	CTSA, LOC130065974	Indel	not specified	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 797035	NM_000308.4(CTSA):c.54G>T (p.Leu18=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 459632	NM_000308.4(CTSA):c.54G>C (p.Leu18=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	not provided +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

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Items: 20