ClinVar for Gene (Select 100271846) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090403	NM_001191055.2(ERVV-2):c.835C>G (p.Pro279Ala)	ERVV-2 (P279A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090401	NM_001191055.2(ERVV-2):c.711C>A (p.His237Gln)	ERVV-2 (H237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090400	NM_001191055.2(ERVV-2):c.451A>G (p.Met151Val)	ERVV-2 (M151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090398	NM_001191055.2(ERVV-2):c.1519A>G (p.Ile507Val)	ERVV-2 (I507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090397	NM_001191055.2(ERVV-2):c.1453G>T (p.Val485Phe)	ERVV-2 (V485F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090395	NM_001191055.2(ERVV-2):c.1415T>C (p.Leu472Pro)	ERVV-2 (L472P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2620133	NM_001191055.2(ERVV-2):c.117C>A (p.Asn39Lys)	ERVV-2 (N39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592583	NM_001191055.2(ERVV-2):c.9G>T (p.Glu3Asp)	ERVV-2 (E3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480903	NM_001191055.2(ERVV-2):c.952C>G (p.Gln318Glu)	ERVV-2 (Q318E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462611	NM_001191055.2(ERVV-2):c.1009G>A (p.Ala337Thr)	ERVV-2 (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405405	NM_001191055.2(ERVV-2):c.1324G>T (p.Ala442Ser)	ERVV-2 (A442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405404	NM_001191055.2(ERVV-2):c.1321A>G (p.Arg441Gly)	ERVV-2 (R441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403242	NM_001191055.2(ERVV-2):c.1580G>A (p.Arg527Gln)	ERVV-2 (R527Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396915	NM_001191055.2(ERVV-2):c.1348G>A (p.Ala450Thr)	ERVV-2 (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393370	NM_001191055.2(ERVV-2):c.1013C>T (p.Pro338Leu)	ERVV-2 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391169	NM_001191055.2(ERVV-2):c.791A>C (p.Lys264Thr)	ERVV-2 (K264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389548	NM_001191055.2(ERVV-2):c.783A>T (p.Gln261His)	ERVV-2 (Q261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386276	NM_001191055.2(ERVV-2):c.1472A>G (p.Gln491Arg)	ERVV-2 (Q491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364442	NM_001191055.2(ERVV-2):c.1578C>A (p.Phe526Leu)	ERVV-2 (F526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364282	NM_001191055.2(ERVV-2):c.751C>G (p.Pro251Ala)	ERVV-2 (P251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363936	NM_001191055.2(ERVV-2):c.794T>G (p.Leu265Arg)	ERVV-2 (L265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361262	NM_001191055.2(ERVV-2):c.911G>A (p.Arg304Gln)	ERVV-2 (R304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357260	NM_001191055.2(ERVV-2):c.1039G>A (p.Val347Ile)	ERVV-2 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354914	NM_001191055.2(ERVV-2):c.1582G>C (p.Glu528Gln)	ERVV-2 (E528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354716	NM_001191055.2(ERVV-2):c.1322G>A (p.Arg441Lys)	ERVV-2 (R441K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344521	NM_001191055.2(ERVV-2):c.1499A>G (p.Glu500Gly)	ERVV-2 (E500G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344463	NM_001191055.2(ERVV-2):c.1451G>A (p.Cys484Tyr)	ERVV-2 (C484Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332214	NM_001191055.2(ERVV-2):c.878C>T (p.Thr293Met)	ERVV-2 (T293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318556	NM_001191055.2(ERVV-2):c.970C>A (p.Leu324Ile)	ERVV-2 (L324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280799	NM_001191055.2(ERVV-2):c.1474T>C (p.Phe492Leu)	ERVV-2 (F492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271265	NM_001191055.2(ERVV-2):c.353G>T (p.Cys118Phe)	ERVV-2 (C118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249386	NM_001191055.2(ERVV-2):c.319C>G (p.Gln107Glu)	ERVV-2 (Q107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248810	NM_001191055.2(ERVV-2):c.1553C>T (p.Pro518Leu)	ERVV-2 (P518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246980	NM_001191055.2(ERVV-2):c.784A>C (p.Lys262Gln)	ERVV-2 (K262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246685	NM_001191055.2(ERVV-2):c.1208A>G (p.Asn403Ser)	ERVV-2 (N403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245065	NM_001191055.2(ERVV-2):c.293G>T (p.Cys98Phe)	ERVV-2 (C98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209063	NM_001191055.2(ERVV-2):c.83T>C (p.Leu28Pro)	ERVV-2 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209062	NM_001191055.2(ERVV-2):c.82C>A (p.Leu28Ile)	ERVV-2 (L28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 58343	GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1	ERVFRD-2, ERVV-1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

Types of conflicts

Molecular consequence

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Links from Gene

Items: 55