LOC126806247[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2274641	NM_001617.4(ADD2):c.1399G>A (p.Glu467Lys)	LOC126806247, ADD2 (E467K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264473	NM_001617.4(ADD2):c.1256T>G (p.Leu419Arg)	ADD2, LOC126806247 (L435R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389281	NM_001617.4(ADD2):c.1244C>T (p.Pro415Leu)	ADD2, LOC126806247 (P431L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar