ClinVar for Gene (Select 84898) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685370	GRCh37/hg19 10p12.31(chr10:19937554-20399617)x1	PLXDC2	Copy number loss	not provided	GUncertain significance
Select item 2596377	NM_032812.9(PLXDC2):c.572G>A (p.Arg191Gln)	PLXDC2 (R191Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594506	NM_032812.9(PLXDC2):c.1259G>A (p.Ser420Asn)	PLXDC2 (S371N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594271	NM_032812.9(PLXDC2):c.386G>A (p.Arg129Gln)	PLXDC2 (R129Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589668	NM_032812.9(PLXDC2):c.1403C>T (p.Ala468Val)	PLXDC2 (A468V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2552244	NM_032812.9(PLXDC2):c.8G>A (p.Arg3Lys)	PLXDC2 (R3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532360	NM_032812.9(PLXDC2):c.1333G>T (p.Ala445Ser)	PLXDC2 (A445S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511187	NM_032812.9(PLXDC2):c.1004G>A (p.Gly335Asp)	PLXDC2 (G335D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474820	NM_032812.9(PLXDC2):c.1487G>A (p.Arg496Lys)	PLXDC2 (R496K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468958	NM_032812.9(PLXDC2):c.928C>A (p.Gln310Lys)	PLXDC2 (Q261K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460735	NM_032812.9(PLXDC2):c.5C>A (p.Ala2Glu)	PLXDC2 (A2E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411747	NM_032812.9(PLXDC2):c.179C>T (p.Ala60Val)	PLXDC2 (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386346	NM_032812.9(PLXDC2):c.1384A>T (p.Ile462Phe)	PLXDC2 (I462F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346912	NM_032812.9(PLXDC2):c.331A>G (p.Thr111Ala)	PLXDC2 (T111A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338991	NM_032812.9(PLXDC2):c.899C>A (p.Thr300Lys)	PLXDC2 (T251K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301902	NM_032812.9(PLXDC2):c.1429A>C (p.Met477Leu)	PLXDC2 (M428L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269047	NM_032812.9(PLXDC2):c.326A>T (p.Glu109Val)	PLXDC2 (E109V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256927	NM_032812.9(PLXDC2):c.1430T>C (p.Met477Thr)	PLXDC2 (M428T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809427	GRCh37/hg19 10p12.31(chr10:19973105-20725104)x3	PLXDC2	Copy number gain	not provided	GUncertain significance
Select item 1808821	GRCh37/hg19 10p12.31(chr10:20247074-20306881)x1	PLXDC2	Copy number loss	not provided	GUncertain significance
Select item 1808530	GRCh37/hg19 10p12.31(chr10:19516264-20934189)x1	PLXDC2	Copy number loss	not provided	GUncertain significance
Select item 1807964	GRCh37/hg19 10p12.31(chr10:20391795-20481555)x1	PLXDC2	Copy number loss	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980366	GRCh37/hg19 10p12.31(chr10:19814841-20477255)x1	PLXDC2	Copy number loss	not provided	GUncertain significance
Select item 815324	GRCh37/hg19 10p12.31(chr10:19175479-20260050)x3	PLXDC2	Copy number gain	not provided	GUncertain significance
Select item 815322	GRCh37/hg19 10p12.32-12.31(chr10:18600279-20348839)x3	NSUN6, CACNB2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 716202	NM_032812.9(PLXDC2):c.244G>A (p.Val82Ile)	PLXDC2 (V82I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712486	NM_032812.9(PLXDC2):c.221C>T (p.Ala74Val)	PLXDC2 (A74V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686574	GRCh37/hg19 10p12.31(chr10:19774176-22330966)x1	C10orf113, DNAJC1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 563780	GRCh37/hg19 10p12.31(chr10:18866867-20767945)x3	NSUN6, PLXDC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 559400	Single allele	LOC101928834, LOC124403918 +3 more	Deletion	Failure to thrive in infancy +1 more	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 221471	GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3	ARL5B, CACNB2 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 47