PLXDC1[gene] - ClinVar

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Items: 42

	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 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 2547476	NM_020405.5(PLXDC1):c.1445C>T (p.Ala482Val)	PLXDC1 (A482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215496	NM_020405.5(PLXDC1):c.1409T>C (p.Met470Thr)	PLXDC1 (M470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301560	NM_020405.5(PLXDC1):c.1394A>C (p.His465Pro)	PLXDC1 (H465P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390004	NM_020405.5(PLXDC1):c.1375T>C (p.Phe459Leu)	PLXDC1 (F459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261068	NM_020405.5(PLXDC1):c.1309G>A (p.Val437Met)	PLXDC1 (V437M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512217	NM_020405.5(PLXDC1):c.1217G>A (p.Gly406Glu)	PLXDC1 (G406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215495	NM_020405.5(PLXDC1):c.1039T>C (p.Cys347Arg)	PLXDC1 (C347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542547	NM_020405.5(PLXDC1):c.1015C>T (p.Arg339Cys)	PLXDC1 (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365859	NM_020405.5(PLXDC1):c.1009C>T (p.Arg337Cys)	PLXDC1 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233250	NM_020405.5(PLXDC1):c.952C>G (p.Leu318Val)	PLXDC1 (L318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369771	NM_020405.5(PLXDC1):c.929G>A (p.Cys310Tyr)	PLXDC1 (C310Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534135	NM_020405.5(PLXDC1):c.892T>C (p.Phe298Leu)	PLXDC1 (F298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215503	NM_020405.5(PLXDC1):c.866A>G (p.Lys289Arg)	PLXDC1 (K289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401924	NM_020405.5(PLXDC1):c.829A>G (p.Ile277Val)	PLXDC1 (I277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483174	NM_020405.5(PLXDC1):c.824G>A (p.Arg275Lys)	PLXDC1 (R275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394715	NM_020405.5(PLXDC1):c.818G>A (p.Arg273Gln)	PLXDC1 (R273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215502	NM_020405.5(PLXDC1):c.782T>C (p.Met261Thr)	PLXDC1 (M261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215501	NM_020405.5(PLXDC1):c.743C>T (p.Ser248Phe)	PLXDC1 (S248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483614	NM_020405.5(PLXDC1):c.674T>C (p.Leu225Pro)	PLXDC1 (L225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493421	NM_020405.5(PLXDC1):c.643G>A (p.Asp215Asn)	PLXDC1 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297026	NM_020405.5(PLXDC1):c.634G>C (p.Gly212Arg)	PLXDC1 (G212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291399	NM_020405.5(PLXDC1):c.562G>A (p.Asp188Asn)	PLXDC1 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299038	NM_020405.5(PLXDC1):c.445C>T (p.Arg149Trp)	PLXDC1 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215500	NM_020405.5(PLXDC1):c.422T>C (p.Phe141Ser)	PLXDC1 (F141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251075	NM_020405.5(PLXDC1):c.393G>C (p.Gln131His)	PLXDC1 (Q131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270405	NM_020405.5(PLXDC1):c.389G>A (p.Arg130Gln)	PLXDC1 (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215499	NM_020405.5(PLXDC1):c.388C>T (p.Arg130Trp)	PLXDC1 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215498	NM_020405.5(PLXDC1):c.347G>A (p.Arg116Gln)	PLXDC1 (R116Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219079	NM_020405.5(PLXDC1):c.314G>A (p.Arg105Gln)	PLXDC1 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215497	NM_020405.5(PLXDC1):c.284G>A (p.Arg95His)	PLXDC1 (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297025	NM_020405.5(PLXDC1):c.265C>G (p.His89Asp)	PLXDC1 (H89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597997	NM_020405.5(PLXDC1):c.202G>A (p.Gly68Ser)	PLXDC1 (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458758	NM_020405.5(PLXDC1):c.200T>C (p.Leu67Pro)	PLXDC1 (L67P)	Single nucleotide variant (missense variant)	not specified	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	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

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Items: 42