PUDP[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59233	GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1	PUDP	Copy number loss	See cases	GPathogenic
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 3149775	NM_012080.5(PUDP):c.680A>G (p.Tyr227Cys)	PUDP (Y250C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388800	NM_012080.5(PUDP):c.616A>G (p.Lys206Glu)	PUDP (K163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659912	NM_012080.5(PUDP):c.511-7262A>G	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3149774	NM_012080.5(PUDP):c.473G>A (p.Cys158Tyr)	PUDP (C115Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303060	NM_012080.5(PUDP):c.376C>T (p.Arg126Cys)	PUDP (R126C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149773	NM_012080.5(PUDP):c.361G>A (p.Asp121Asn)	PUDP (D121N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212704	NM_012080.5(PUDP):c.323C>T (p.Pro108Leu)	PUDP (P108L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149772	NM_012080.5(PUDP):c.307C>T (p.Arg103Trp)	PUDP (R126W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402526	NM_012080.5(PUDP):c.291A>T (p.Lys97Asn)	PUDP (K54N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659913	NM_012080.5(PUDP):c.270G>A (p.Ala90=)	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2232403	NM_012080.5(PUDP):c.269C>T (p.Ala90Val)	PUDP (A113V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659914	NM_012080.5(PUDP):c.231A>G (p.Glu77=)	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659915	NM_012080.5(PUDP):c.171G>A (p.Ala57=)	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3149770	NM_012080.5(PUDP):c.110A>C (p.Tyr37Ser)	PUDP (Y37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463226	NM_012080.5(PUDP):c.82G>C (p.Val28Leu)	PUDP (V28L +1 more)	Single nucleotide variant (missense variant)	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

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Items: 22