ClinVar for Gene (Select 57125) - ClinVar

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

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597997	NM_020405.5(PLXDC1):c.202G>A (p.Gly68Ser)	PLXDC1 (G68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547476	NM_020405.5(PLXDC1):c.1445C>T (p.Ala482Val)	PLXDC1 (A482V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542547	NM_020405.5(PLXDC1):c.1015C>T (p.Arg339Cys)	PLXDC1 (R339C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534135	NM_020405.5(PLXDC1):c.892T>C (p.Phe298Leu)	PLXDC1 (F298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512217	NM_020405.5(PLXDC1):c.1217G>A (p.Gly406Glu)	PLXDC1 (G406E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493421	NM_020405.5(PLXDC1):c.643G>A (p.Asp215Asn)	PLXDC1 (D215N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483614	NM_020405.5(PLXDC1):c.674T>C (p.Leu225Pro)	PLXDC1 (L225P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483174	NM_020405.5(PLXDC1):c.824G>A (p.Arg275Lys)	PLXDC1 (R275K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458758	NM_020405.5(PLXDC1):c.200T>C (p.Leu67Pro)	PLXDC1 (L67P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401924	NM_020405.5(PLXDC1):c.829A>G (p.Ile277Val)	PLXDC1 (I277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394715	NM_020405.5(PLXDC1):c.818G>A (p.Arg273Gln)	PLXDC1 (R273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390004	NM_020405.5(PLXDC1):c.1375T>C (p.Phe459Leu)	PLXDC1 (F459L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369771	NM_020405.5(PLXDC1):c.929G>A (p.Cys310Tyr)	PLXDC1 (C310Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365859	NM_020405.5(PLXDC1):c.1009C>T (p.Arg337Cys)	PLXDC1 (R337C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301560	NM_020405.5(PLXDC1):c.1394A>C (p.His465Pro)	PLXDC1 (H465P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299038	NM_020405.5(PLXDC1):c.445C>T (p.Arg149Trp)	PLXDC1 (R149W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297026	NM_020405.5(PLXDC1):c.634G>C (p.Gly212Arg)	PLXDC1 (G212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297025	NM_020405.5(PLXDC1):c.265C>G (p.His89Asp)	PLXDC1 (H89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291399	NM_020405.5(PLXDC1):c.562G>A (p.Asp188Asn)	PLXDC1 (D188N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270405	NM_020405.5(PLXDC1):c.389G>A (p.Arg130Gln)	PLXDC1 (R130Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261068	NM_020405.5(PLXDC1):c.1309G>A (p.Val437Met)	PLXDC1 (V437M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251075	NM_020405.5(PLXDC1):c.393G>C (p.Gln131His)	PLXDC1 (Q131H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233250	NM_020405.5(PLXDC1):c.952C>G (p.Leu318Val)	PLXDC1 (L318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219079	NM_020405.5(PLXDC1):c.314G>A (p.Arg105Gln)	PLXDC1 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	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
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
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

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: 33