PPY[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2384907	NM_002722.5(PPY):c.230C>T (p.Ser77Leu)	PPY (S77L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217987	NM_002722.5(PPY):c.209A>T (p.Lys70Ile)	PPY (K76I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217986	NM_002722.5(PPY):c.193T>A (p.Tyr65Asn)	PPY (Y71N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529355	NM_002722.5(PPY):c.185G>T (p.Arg62Met)	PPY (R62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247553	NM_002722.5(PPY):c.127C>T (p.Pro43Ser)	PPY (P43S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527367	NM_002722.5(PPY):c.49G>A (p.Val17Met)	PPY (V17M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403022	NM_002722.5(PPY):c.14G>A (p.Arg5His)	PPY (R11H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815937	GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3	ARL4D, CD300LG +13 more	Copy number gain	not provided	GUncertain significance
Select item 564447	GRCh37/hg19 17q21.31(chr17:41540257-42044249)x1	CD300LG, CFAP97D1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic