LOC126805820[gene] - ClinVar - NCBI

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Items: 13

	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 +332 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	LOC129931064, LOC129931065 +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 3088144	NM_020775.5(ELAPOR1):c.2144C>T (p.Thr715Ile)	ELAPOR1, LOC126805820 (T377I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777928	NM_020775.5(ELAPOR1):c.2154C>G (p.Val718=)	ELAPOR1, LOC126805820	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509270	NM_020775.5(ELAPOR1):c.2165G>A (p.Arg722Gln)	ELAPOR1, LOC126805820 (R620Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088146	NM_020775.5(ELAPOR1):c.2216G>A (p.Cys739Tyr)	ELAPOR1, LOC126805820 (C401Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088147	NM_020775.5(ELAPOR1):c.2305G>T (p.Val769Leu)	ELAPOR1, LOC126805820 (V667L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088148	NM_020775.5(ELAPOR1):c.2383G>A (p.Val795Met)	ELAPOR1, LOC126805820 (V457M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance