ENDOV[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	GUncertain significance
Select item 1342620	NC_000017.11:g.80392616_80422726del	ENDOV, LOC130061908 +3 more	Deletion	Moyamoya disease 2	GUncertain significance
Select item 2371541	NM_173627.5(ENDOV):c.26C>T (p.Pro9Leu)	ENDOV (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544075	NM_173627.5(ENDOV):c.29C>G (p.Pro10Arg)	ENDOV (P10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251118	NM_173627.5(ENDOV):c.29C>A (p.Pro10Gln)	ENDOV (P10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088856	NM_173627.5(ENDOV):c.67C>T (p.Arg23Trp)	ENDOV, LOC130061908 (R23W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331383	NM_173627.5(ENDOV):c.80A>C (p.His27Pro)	ENDOV, LOC130061908 (H27P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484320	NM_173627.5(ENDOV):c.111G>C (p.Gln37His)	ENDOV (Q37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482373	NM_173627.5(ENDOV):c.121G>A (p.Ala41Thr)	ENDOV (A41T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275425	NM_173627.5(ENDOV):c.138G>T (p.Gln46His)	ENDOV (Q46H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292010	NM_173627.5(ENDOV):c.155A>T (p.Asp52Val)	ENDOV (D52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088852	NM_173627.5(ENDOV):c.193G>T (p.Ala65Ser)	ENDOV (A65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469906	NM_173627.5(ENDOV):c.208C>T (p.Leu70Phe)	ENDOV (L70F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311526	NM_173627.5(ENDOV):c.247C>T (p.Arg83Cys)	ENDOV (R83C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320625	NM_173627.5(ENDOV):c.265G>T (p.Ala89Ser)	ENDOV (A89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088853	NM_173627.5(ENDOV):c.266C>T (p.Ala89Val)	ENDOV (A89V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305138	NM_173627.5(ENDOV):c.278C>T (p.Ser93Leu)	ENDOV (S93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088855	NM_173627.5(ENDOV):c.347C>T (p.Pro116Leu)	ENDOV (P116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 668760	NM_173627.5(ENDOV):c.421C>T (p.His141Tyr)	ENDOV (H96Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2368846	NM_173627.5(ENDOV):c.430G>A (p.Val144Ile)	ENDOV (V99I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243787	NM_173627.5(ENDOV):c.433C>T (p.Leu145Phe)	ENDOV (L100F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275424	NM_173627.5(ENDOV):c.488T>A (p.Leu163Gln)	ENDOV (L163Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593325	NM_173627.5(ENDOV):c.631G>A (p.Val211Met)	ENDOV (V211M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3238951	NM_173627.5(ENDOV):c.643A>T (p.Met215Leu)	ENDOV (M170L +1 more)	Single nucleotide variant (missense variant +1 more)	UMLS: C0007644	GUncertain significance
Select item 2402903	NM_173627.5(ENDOV):c.691C>T (p.Arg231Trp)	ENDOV (R231W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542352	NM_173627.5(ENDOV):c.706G>A (p.Val236Met)	ENDOV (V191M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275422	NM_173627.5(ENDOV):c.710G>A (p.Arg237His)	ENDOV (R192H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275423	NM_173627.5(ENDOV):c.715G>C (p.Ala239Pro)	ENDOV (A194P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275421	NM_173627.5(ENDOV):c.721A>G (p.Ile241Val)	ENDOV (I196V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347875	NM_173627.5(ENDOV):c.742C>T (p.Arg248Cys)	ENDOV (R203C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493569	NM_173627.5(ENDOV):c.791C>T (p.Ala264Val)	ENDOV (A264V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088857	NM_173627.5(ENDOV):c.808T>C (p.Cys270Arg)	ENDOV (C225R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550810	NM_173627.5(ENDOV):c.809G>T (p.Cys270Phe)	ENDOV (C225F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408249	NM_173627.5(ENDOV):c.826G>A (p.Gly276Arg)	ENDOV (G231R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684859	GRCh37/hg19 17q25.3(chr17:78228491-78573872)x3	ENDOV, NPTX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809041	GRCh37/hg19 17q25.3(chr17:78230693-79048694)x4	BAIAP2, CHMP6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1340097	GRCh37/hg19 17q25.3(chr17:78281233-78524153)x3	ENDOV, NPTX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687007	GRCh37/hg19 17q25.3(chr17:78366132-78398120)x1	ENDOV, RNF213	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442849	GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3	CARD14, CCDC40 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance

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Items: 56