LOC130058603[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 2509899	NM_017736.5(THUMPD1):c.98C>T (p.Ala33Val)	ACSM3, LOC130058603 +1 more (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326031	NM_017736.5(THUMPD1):c.97G>A (p.Ala33Thr)	ACSM3, LOC130058603 +1 more (A33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621627	NM_017736.5(THUMPD1):c.74C>T (p.Ala25Val)	ACSM3, LOC130058603 +1 more (A25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177256	NM_017736.5(THUMPD1):c.73G>A (p.Ala25Thr)	ACSM3, LOC130058603 +1 more (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar