"Ambry Genetics"[submitter] AND "MPP3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2227268	NM_001932.6(MPP3):c.1628G>A (p.Arg543Gln)	MPP3 (R543Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2225644	NM_001932.6(MPP3):c.1583A>G (p.Asp528Gly)	MPP3 (D528G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268475	NM_001932.6(MPP3):c.1543C>T (p.Pro515Ser)	MPP3 (P515S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323548	NM_001932.6(MPP3):c.1496A>G (p.Tyr499Cys)	MPP3 (Y507C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235067	NM_001932.6(MPP3):c.1303C>T (p.His435Tyr)	MPP3 (H460Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257052	NM_001932.6(MPP3):c.1243G>A (p.Val415Ile)	MPP3 (V415I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509533	NM_001932.6(MPP3):c.1159C>G (p.Leu387Val)	MPP3 (L387V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537235	NM_001932.6(MPP3):c.1130A>G (p.Tyr377Cys)	MPP3 (Y385C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329311	NM_001932.6(MPP3):c.943C>A (p.Pro315Thr)	MPP3 (P315T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508297	NM_001932.6(MPP3):c.925C>A (p.Gln309Lys)	MPP3 (Q317K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370648	NM_001932.6(MPP3):c.775G>A (p.Val259Ile)	MPP3 (V284I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229841	NM_001932.6(MPP3):c.767G>A (p.Arg256His)	MPP3 (R264H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231998	NM_001932.6(MPP3):c.671T>C (p.Leu224Ser)	MPP3 (L249S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304337	NM_001932.6(MPP3):c.516C>G (p.Asp172Glu)	MPP3 (D172E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472966	NM_001932.6(MPP3):c.379G>A (p.Asp127Asn)	MPP3 (D127N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602240	NM_001932.6(MPP3):c.339G>T (p.Lys113Asn)	MPP3 (K138N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance