ERVV-1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 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 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3090387	NM_152473.3(ERVV-1):c.146A>G (p.Asn49Ser)	ERVV-1 (N49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650403	NM_152473.3(ERVV-1):c.158G>A (p.Arg53Lys)	ERVV-1 (R53K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2389152	NM_152473.3(ERVV-1):c.175T>A (p.Tyr59Asn)	ERVV-1 (Y59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392790	NM_152473.3(ERVV-1):c.214G>T (p.Gly72Cys)	ERVV-1 (G72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226833	NM_152473.3(ERVV-1):c.251C>T (p.Pro84Leu)	ERVV-1 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276427	NM_152473.3(ERVV-1):c.400G>A (p.Asp134Asn)	ERVV-1 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090388	NM_152473.3(ERVV-1):c.433A>G (p.Ser145Gly)	ERVV-1 (S145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312977	NM_152473.3(ERVV-1):c.452T>A (p.Met151Lys)	ERVV-1 (M151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204123	NM_152473.3(ERVV-1):c.524G>A (p.Arg175Gln)	ERVV-1 (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596565	NM_152473.3(ERVV-1):c.667G>A (p.Ala223Thr)	ERVV-1 (A223T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282880	NM_152473.3(ERVV-1):c.670T>C (p.Cys224Arg)	ERVV-1 (C224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260796	NM_152473.3(ERVV-1):c.746G>C (p.Cys249Ser)	ERVV-1 (C249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457861	NM_152473.3(ERVV-1):c.752C>G (p.Pro251Arg)	ERVV-1 (P251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090390	NM_152473.3(ERVV-1):c.761A>G (p.Tyr254Cys)	ERVV-1 (Y254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276429	NM_152473.3(ERVV-1):c.817A>G (p.Ile273Val)	ERVV-1 (I273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090391	NM_152473.3(ERVV-1):c.817A>T (p.Ile273Leu)	ERVV-1 (I273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276428	NM_152473.3(ERVV-1):c.881G>C (p.Gly294Ala)	ERVV-1 (G294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090392	NM_152473.3(ERVV-1):c.916A>C (p.Ile306Leu)	ERVV-1 (I306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259198	NM_152473.3(ERVV-1):c.920G>A (p.Gly307Asp)	ERVV-1 (G307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287057	NM_152473.3(ERVV-1):c.970C>A (p.Leu324Ile)	ERVV-1 (L324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090393	NM_152473.3(ERVV-1):c.992C>T (p.Ala331Val)	ERVV-1 (A331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311788	NM_152473.3(ERVV-1):c.1009G>T (p.Ala337Ser)	ERVV-1 (A337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344300	NM_152473.3(ERVV-1):c.1063C>G (p.Gln355Glu)	ERVV-1 (Q355E)	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 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

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Items: 40