LOC129998187[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 2531068	NM_147128.4(ZNRF2):c.182C>A (p.Ala61Asp)	LOC105375218, LOC129998187 +1 more (A61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657367	NM_147128.4(ZNRF2):c.201G>C (p.Ala67=)	LOC105375218, LOC129998187 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3199175	NM_147128.4(ZNRF2):c.203C>T (p.Ala68Val)	LOC105375218, LOC129998187 +1 more (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar