LOC129931093[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3057588	NM_006513.4(SARS1):c.48A>G (p.Pro16=)	LOC129931093, SARS1	Single nucleotide variant (synonymous variant +1 more)	SARS1-related disorder	GLikely benign
Select item 3157852	NM_006513.4(SARS1):c.91G>A (p.Gly31Arg)	LOC129931093, SARS1 (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157843	NM_006513.4(SARS1):c.104A>G (p.Gln35Arg)	LOC129931093, SARS1 (Q35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1690455	NM_006513.4(SARS1):c.126G>A (p.Glu42=)	LOC129931093, SARS1	Single nucleotide variant (synonymous variant +1 more)	See cases	GUncertain significance