VSIG10L[gene] - ClinVar

Search results

Items: 88

	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 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 3189119	NM_001163922.3(VSIG10L):c.2565G>C (p.Arg855Ser)	VSIG10L (R855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735785	NM_001163922.3(VSIG10L):c.2475C>T (p.Pro825=)	VSIG10L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189118	NM_001163922.3(VSIG10L):c.2332G>A (p.Ala778Thr)	VSIG10L (A778T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189117	NM_001163922.3(VSIG10L):c.2321A>T (p.His774Leu)	VSIG10L (H774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788473	NM_001163922.3(VSIG10L):c.2306-7C>T	VSIG10L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3332346	NM_001163922.3(VSIG10L):c.2299C>G (p.Arg767Gly)	VSIG10L (R767G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358293	NM_001163922.3(VSIG10L):c.2299C>T (p.Arg767Trp)	VSIG10L (R767W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457578	NM_001163922.3(VSIG10L):c.2272G>A (p.Gly758Arg)	VSIG10L (G758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222789	NM_001163922.3(VSIG10L):c.2264G>A (p.Gly755Asp)	VSIG10L (G755D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262886	NM_001163922.3(VSIG10L):c.2243G>A (p.Arg748Gln)	VSIG10L (R748Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189116	NM_001163922.3(VSIG10L):c.2050G>A (p.Ala684Thr)	VSIG10L (A684T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240300	NM_001163922.3(VSIG10L):c.2036A>G (p.Gln679Arg)	VSIG10L (Q679R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553466	NM_001163922.3(VSIG10L):c.1929C>G (p.Ser643Arg)	VSIG10L (S643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332350	NM_001163922.3(VSIG10L):c.1915A>G (p.Ile639Val)	VSIG10L (I639V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368468	NM_001163922.3(VSIG10L):c.1903C>T (p.Arg635Trp)	VSIG10L (R635W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 769044	NM_001163922.3(VSIG10L):c.1880G>A (p.Arg627His)	VSIG10L (R627H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2282873	NM_001163922.3(VSIG10L):c.1850G>C (p.Gly617Ala)	VSIG10L (G617A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380273	NM_001163922.3(VSIG10L):c.1793T>C (p.Val598Ala)	VSIG10L (V598A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189115	NM_001163922.3(VSIG10L):c.1762G>T (p.Val588Leu)	VSIG10L (V588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522243	NM_001163922.3(VSIG10L):c.1755T>G (p.His585Gln)	VSIG10L (H585Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332345	NM_001163922.3(VSIG10L):c.1754A>G (p.His585Arg)	VSIG10L (H585R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382708	NM_001163922.3(VSIG10L):c.1733C>A (p.Ala578Asp)	VSIG10L (A578D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271873	NM_001163922.3(VSIG10L):c.1657C>T (p.Arg553Trp)	LOC130065025, VSIG10L (R553W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270996	NM_001163922.3(VSIG10L):c.1595C>T (p.Pro532Leu)	LOC130065025, VSIG10L (P532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487435	NM_001163922.3(VSIG10L):c.1589G>T (p.Gly530Val)	LOC130065025, VSIG10L (G530V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623361	NM_001163922.3(VSIG10L):c.1579C>G (p.Gln527Glu)	LOC130065025, VSIG10L (Q527E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213165	NM_001163922.3(VSIG10L):c.1514G>T (p.Gly505Val)	LOC130065025, VSIG10L (G505V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479760	NM_001163922.3(VSIG10L):c.1490C>T (p.Ala497Val)	LOC130065025, VSIG10L (A497V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189114	NM_001163922.3(VSIG10L):c.1433C>G (p.Thr478Ser)	LOC130065026, VSIG10L +1 more (T478S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257733	NM_001163922.3(VSIG10L):c.1345G>C (p.Ala449Pro)	LOC130065026, VSIG10L +1 more (A449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245095	NM_001163922.3(VSIG10L):c.1283G>A (p.Cys428Tyr)	VSIG10L, VSIG10L-AS1 (C428Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375613	NM_001163922.3(VSIG10L):c.1274C>T (p.Thr425Ile)	VSIG10L, VSIG10L-AS1 (T425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314940	NM_001163922.3(VSIG10L):c.1258G>A (p.Ala420Thr)	VSIG10L, VSIG10L-AS1 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332342	NM_001163922.3(VSIG10L):c.1252G>C (p.Val418Leu)	VSIG10L, VSIG10L-AS1 (V418L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355628	NM_001163922.3(VSIG10L):c.1216G>C (p.Val406Leu)	VSIG10L, VSIG10L-AS1 (V406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328918	NM_001163922.3(VSIG10L):c.1190A>G (p.Tyr397Cys)	VSIG10L, VSIG10L-AS1 (Y397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775426	NM_001163922.3(VSIG10L):c.1189+10G>A	VSIG10L, VSIG10L-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2523921	NM_001163922.3(VSIG10L):c.1147C>T (p.Pro383Ser)	VSIG10L, VSIG10L-AS1 (P383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362346	NM_001163922.3(VSIG10L):c.1139T>G (p.Val380Gly)	VSIG10L, VSIG10L-AS1 (V380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332343	NM_001163922.3(VSIG10L):c.1123C>T (p.Arg375Trp)	VSIG10L, VSIG10L-AS1 (R375W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510366	NM_001163922.3(VSIG10L):c.1088T>G (p.Leu363Arg)	VSIG10L, VSIG10L-AS1 (L363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474778	NM_001163922.3(VSIG10L):c.1083C>A (p.Asp361Glu)	VSIG10L, VSIG10L-AS1 (D361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189113	NM_001163922.3(VSIG10L):c.1051G>A (p.Ala351Thr)	VSIG10L, VSIG10L-AS1 (A351T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2458896	NM_001163922.3(VSIG10L):c.980G>C (p.Trp327Ser)	VSIG10L, VSIG10L-AS1 (W327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404455	NM_001163922.3(VSIG10L):c.947G>T (p.Gly316Val)	VSIG10L, VSIG10L-AS1 (G316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189124	NM_001163922.3(VSIG10L):c.925A>G (p.Lys309Glu)	VSIG10L, VSIG10L-AS1 (K309E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2314285	NM_001163922.3(VSIG10L):c.887G>T (p.Gly296Val)	VSIG10L, VSIG10L-AS1 (G296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189123	NM_001163922.3(VSIG10L):c.848G>A (p.Arg283Gln)	VSIG10L, VSIG10L-AS1 (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189122	NM_001163922.3(VSIG10L):c.833C>T (p.Thr278Met)	VSIG10L, VSIG10L-AS1 (T278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239914	NM_001163922.3(VSIG10L):c.614C>T (p.Thr205Ile)	VSIG10L, VSIG10L-AS1 (T205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189121	NM_001163922.3(VSIG10L):c.580C>A (p.Gln194Lys)	VSIG10L, VSIG10L-AS1 (Q194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332341	NM_001163922.3(VSIG10L):c.570C>A (p.Ser190Arg)	VSIG10L, VSIG10L-AS1 (S190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332340	NM_001163922.3(VSIG10L):c.559T>C (p.Ser187Pro)	VSIG10L, VSIG10L-AS1 (S187P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553959	NM_001163922.3(VSIG10L):c.503T>G (p.Met168Arg)	VSIG10L, VSIG10L-AS1 (M168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213316	NM_001163922.3(VSIG10L):c.497A>T (p.Asp166Val)	VSIG10L, VSIG10L-AS1 (D166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564780	NM_001163922.3(VSIG10L):c.494C>T (p.Pro165Leu)	VSIG10L, VSIG10L-AS1 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610440	NM_001163922.3(VSIG10L):c.481T>G (p.Ser161Ala)	VSIG10L, VSIG10L-AS1 (S161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488613	NM_001163922.3(VSIG10L):c.410C>A (p.Thr137Asn)	VSIG10L, VSIG10L-AS1 (T137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331572	NM_001163922.3(VSIG10L):c.404C>G (p.Ser135Cys)	VSIG10L, VSIG10L-AS1 (S135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336804	NM_001163922.3(VSIG10L):c.394C>T (p.Pro132Ser)	VSIG10L, VSIG10L-AS1 (P132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359378	NM_001163922.3(VSIG10L):c.317C>T (p.Pro106Leu)	VSIG10L, VSIG10L-AS1 (P106L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332347	NM_001163922.3(VSIG10L):c.309T>G (p.Asp103Glu)	VSIG10L, VSIG10L-AS1 (D103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189120	NM_001163922.3(VSIG10L):c.289G>A (p.Val97Ile)	VSIG10L, VSIG10L-AS1 (V97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789497	NM_001163922.3(VSIG10L):c.232T>A (p.Ser78Thr)	VSIG10L, VSIG10L-AS1 (S78T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3332344	NM_001163922.3(VSIG10L):c.214T>C (p.Ser72Pro)	VSIG10L, VSIG10L-AS1 (S72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600271	NM_001163922.3(VSIG10L):c.137A>T (p.Gln46Leu)	VSIG10L, VSIG10L-AS1 (Q46L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481352	NM_001163922.3(VSIG10L):c.85C>G (p.Gln29Glu)	VSIG10L, VSIG10L-AS1 (Q29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350138	NM_001163922.3(VSIG10L):c.6C>A (p.Asp2Glu)	VSIG10L, VSIG10L-AS1 (D2E)	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 2424337	NC_000019.9:g.(?_51727962)_(51890697_?)del	NKG7, CD33 +6 more	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	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 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
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 395469	GRCh37/hg19 19q13.41(chr19:51840736-51853666)x3	ETFB, VSIG10L	Copy number gain	See cases	GLikely benign
Select item 394612	GRCh37/hg19 19q13.41(chr19:51840736-51870742)x3	CLDND2, ETFB +1 more	Copy number gain	See cases	GLikely benign
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: 88