LOC129996744[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 3349224	NM_017934.7(PHIP):c.189+5G>C	LOC129996744, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GUncertain significance
Select item 1879666	NM_017934.7(PHIP):c.189+1G>C	LOC129996744, PHIP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1331673	NM_017934.7(PHIP):c.187C>T (p.Leu63=)	LOC129996744, PHIP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3355432	NM_017934.7(PHIP):c.183G>A (p.Gln61=)	LOC129996744, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3354468	NM_017934.7(PHIP):c.177C>T (p.Thr59=)	LOC129996744, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign

ClinVar