Related gene-specific medical variations for Gene (Select 8226) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149771	NM_012080.5(PUDP):c.22G>T (p.Val8Phe)	LOC130067915, PUDP +1 more (V8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340316	NM_012080.5(PUDP):c.43A>G (p.Met15Val)	LOC130067915, PUDP +1 more (M15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1808145	GRCh37/hg19 Xp22.31(chrX:6591186-7074863)x2	PUDP	Copy number gain	not provided	GUncertain significance
Select item 393957	GRCh37/hg19 Xp22.31(chrX:6604013-6979765)x0	PUDP	Copy number loss	See cases	GUncertain significance
Select item 393783	GRCh37/hg19 Xp22.31(chrX:6604013-6980976)x0	PUDP	Copy number loss	See cases	GUncertain significance
Select item 219042	GRCh37/hg19 Xp22.31(chrX:6776818-7119738)x3	PUDP	Copy number gain	See cases	GUncertain significance
Select item 145156	GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x0	PUDP	Copy number loss	See cases	GBenign
Select item 145155	GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x1	PUDP	Copy number loss	See cases	GBenign
Select item 59233	GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1	PUDP	Copy number loss	See cases	GPathogenic

ClinVar