MPP2[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	LOC110485085, LOC111589215 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
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 2621462	NM_005374.5(MPP2):c.1528C>T (p.Arg510Trp)	MPP2 (R534W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268699	NM_005374.5(MPP2):c.1499G>A (p.Arg500Gln)	MPP2 (R500Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621229	NM_005374.5(MPP2):c.1448C>A (p.Ala483Glu)	MPP2 (A507E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245508	NM_005374.5(MPP2):c.1378G>A (p.Glu460Lys)	MPP2 (E321K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242441	NM_005374.5(MPP2):c.1313T>C (p.Val438Ala)	MPP2 (V299A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533864	NM_005374.5(MPP2):c.1294G>A (p.Asp432Asn)	MPP2 (D432N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353885	NM_005374.5(MPP2):c.1210C>T (p.Arg404Cys)	MPP2 (R265C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511103	NM_005374.5(MPP2):c.1180C>T (p.Arg394Trp)	MPP2 (R255W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324048	NM_005374.5(MPP2):c.1045C>T (p.Arg349Cys)	MPP2 (R366C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227149	NM_005374.5(MPP2):c.931G>A (p.Gly311Ser)	MPP2 (G328S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204631	NM_005374.5(MPP2):c.613C>T (p.Arg205Cys)	MPP2 (R222C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647816	NM_005374.5(MPP2):c.594C>T (p.Arg198=)	MPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491958	NM_005374.5(MPP2):c.592C>T (p.Arg198Cys)	MPP2 (R198C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231026	NM_005374.5(MPP2):c.316A>C (p.Thr106Pro)	MPP2 (T95P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459534	NM_005374.5(MPP2):c.236C>T (p.Ala79Val)	MPP2 (A103V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 27