ClinVar for Gene (Select 4356) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202803	NM_001932.6(MPP3):c.911C>A (p.Thr304Asn)	MPP3 (T304N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202799	NM_001932.6(MPP3):c.83A>G (p.Lys28Arg)	MPP3 (K53R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202796	NM_001932.6(MPP3):c.81C>G (p.His27Gln)	MPP3 (H52Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202793	NM_001932.6(MPP3):c.76A>G (p.Asn26Asp)	MPP3 (N26D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202779	NM_001932.6(MPP3):c.386A>G (p.Asp129Gly)	MPP3 (D137G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202767	NM_001932.6(MPP3):c.1671T>A (p.Asp557Glu)	MPP3 (D557E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202763	NM_001932.6(MPP3):c.1615G>A (p.Ala539Thr)	MPP3 (A547T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202752	NM_001932.6(MPP3):c.126C>A (p.Ser42Arg)	MPP3 (S67R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
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 2472966	NM_001932.6(MPP3):c.379G>A (p.Asp127Asn)	MPP3 (D127N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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 2235067	NM_001932.6(MPP3):c.1303C>T (p.His435Tyr)	MPP3 (H460Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2227268	NM_001932.6(MPP3):c.1628G>A (p.Arg543Gln)	MPP3 (R543Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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 688227	GRCh37/hg19 17q21.31(chr17:41800157-41903109)x1	CFAP97D1, DUSP3 +2 more	Copy number loss	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
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 154024	GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3	ARL4D, CD300LG +33 more	Copy number gain	See cases	GLikely benign
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 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 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 148000	GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3	ARL4D, CD300LG +26 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 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40