USB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 1800912	NM_001330568.2(USB1):c.-55-1189C>G	LOC112469011, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706949	NM_001330568.2(USB1):c.-55-1174T>G	USB1, LOC112469011	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706801	NM_024598.4(USB1):c.-51G>C	LOC112469011, USB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1326453	NM_024598.4(USB1):c.-1dup (p.Met1fs)	LOC112469011, USB1 (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1444921	NM_024598.4(USB1):c.1A>G (p.Met1Val)	LOC112469011, USB1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1414559	NM_024598.4(USB1):c.3G>C (p.Met1Ile)	LOC112469011, USB1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2190624	NM_024598.4(USB1):c.6C>T (p.Ser2=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1422881	NM_024598.4(USB1):c.11C>G (p.Ala4Gly)	LOC112469011, USB1 (A4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417003	NM_024598.4(USB1):c.11C>A (p.Ala4Glu)	LOC112469011, USB1 (A4E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1453838	NM_024598.4(USB1):c.16del (p.Leu6fs)	LOC112469011, USB1 (L6fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2175179	NM_024598.4(USB1):c.18G>A (p.Leu6=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 852007	NM_024598.4(USB1):c.20T>C (p.Val7Ala)	LOC112469011, USB1 (V7A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1368951	NM_024598.4(USB1):c.23G>A (p.Gly8Asp)	LOC112469011, USB1 (G8D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1394590	NM_024598.4(USB1):c.28A>G (p.Ser10Gly)	LOC112469011, USB1 (S10G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058902	NM_024598.4(USB1):c.30C>T (p.Ser10=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 403596	NM_024598.4(USB1):c.42C>A (p.Ser14=)	USB1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 838261	NM_024598.4(USB1):c.45G>T (p.Glu15Asp)	USB1 (E15D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369431	NM_024598.4(USB1):c.47A>G (p.Asp16Gly)	USB1 (D16G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481653	NM_024598.4(USB1):c.58G>A (p.Asp20Asn)	USB1 (D20N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2170559	NM_024598.4(USB1):c.61G>C (p.Gly21Arg)	USB1 (G21R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1071879	NM_024598.4(USB1):c.63del (p.Met22fs)	USB1 (M22fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1002095	NM_024598.4(USB1):c.61G>A (p.Gly21Arg)	USB1 (G21R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409669	NM_024598.4(USB1):c.74G>C (p.Arg25Thr)	LOC130059131, USB1 (R25T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1163390	NM_024598.4(USB1):c.74G>A (p.Arg25Lys)	LOC130059131, USB1 (R25K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721301	NM_024598.4(USB1):c.75G>A (p.Arg25=)	LOC130059131, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748273	NM_024598.4(USB1):c.78G>C (p.Pro26=)	LOC130059131, USB1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 2683370	NM_024598.4(USB1):c.79G>A (p.Gly27Arg)	LOC130059131, USB1 (G27R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992602	NM_024598.4(USB1):c.87_98+13del	LOC130059131, USB1	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1350383	NM_024598.4(USB1):c.98+5G>C	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1669830	NM_024598.4(USB1):c.98+15A>G	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586519	NM_024598.4(USB1):c.98+20C>T	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557868	NM_024598.4(USB1):c.98+20C>G	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237844	NM_024598.4(USB1):c.98+167A>C	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222815	NM_024598.4(USB1):c.98+167A>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218492	NM_024598.4(USB1):c.98+204G>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287776	NM_024598.4(USB1):c.98+220C>G	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706948	NM_024598.4(USB1):c.99-183T>G	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295774	NM_024598.4(USB1):c.99-36G>A	USB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1223315	NM_024598.4(USB1):c.99-34T>A	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233677	NM_024598.4(USB1):c.99-32A>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1948311	NM_024598.4(USB1):c.99-14T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016998	NM_024598.4(USB1):c.99-12T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2147413	NM_024598.4(USB1):c.99-10T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032622	NM_024598.4(USB1):c.99-9C>A	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674139	NM_024598.4(USB1):c.99-9del	USB1	Deletion (intron variant)	not provided	GLikely benign
Select item 773584	NM_024598.4(USB1):c.99-9C>T	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013305	NM_024598.4(USB1):c.99-4G>A	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1068250	NM_024598.4(USB1):c.99-2A>G	USB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1355272	NM_024598.4(USB1):c.100G>A (p.Gly34Ser)	USB1 (G34S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1381298	NM_024598.4(USB1):c.104A>C (p.Gln35Pro)	USB1 (Q35P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1042077	NM_024598.4(USB1):c.106A>G (p.Ser36Gly)	USB1 (S36G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1563502	NM_024598.4(USB1):c.111C>T (p.Pro37=)	USB1	Single nucleotide variant (synonymous variant +1 more)	Poikiloderma with neutropenia +1 more	GLikely benign
Select item 2145173	NM_024598.4(USB1):c.115C>T (p.Pro39Ser)	USB1 (P39S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405261	NM_024598.4(USB1):c.116C>A (p.Pro39His)	USB1 (P39H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967877	NM_024598.4(USB1):c.134T>C (p.Val45Ala)	USB1 (V45A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393494	NM_024598.4(USB1):c.145G>T (p.Val49Leu)	USB1 (V49L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2902333	NM_024598.4(USB1):c.150G>A (p.Leu50=)	USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1717973	NM_024598.4(USB1):c.152A>C (p.Asn51Thr)	USB1 (N51T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394404	NM_024598.4(USB1):c.161C>T (p.Pro54Leu)	USB1 (P54L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117753	NM_024598.4(USB1):c.162G>A (p.Pro54=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440178	NM_024598.4(USB1):c.165C>T (p.Gly55=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174022	NM_024598.4(USB1):c.168C>T (p.Thr56=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402949	NM_024598.4(USB1):c.169G>A (p.Glu57Lys)	USB1 (E6K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1548598	NM_024598.4(USB1):c.171G>A (p.Glu57=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 496750	NM_024598.4(USB1):c.176_177del (p.Gly59fs)	USB1 (G59fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 18399	NM_024598.4(USB1):c.179del (p.Pro60fs)	USB1 (P60fs +1 more)	Deletion (frameshift variant)	Poikiloderma with neutropenia	GPathogenic
Select item 2088205	NM_024598.4(USB1):c.188A>T (p.Asp63Val)	USB1 (D12V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359448	NM_024598.4(USB1):c.194C>A (p.Thr65Lys)	USB1 (T14K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153849	NM_024598.4(USB1):c.201C>T (p.His67=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389991	NM_024598.4(USB1):c.202G>A (p.Gly68Arg)	USB1 (G68R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338579	NM_024598.4(USB1):c.206del (p.Gly69fs)	USB1 (G18fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2890125	NM_024598.4(USB1):c.205G>A (p.Gly69Arg)	USB1 (G18R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486251	NM_024598.4(USB1):c.208C>T (p.Arg70Trp)	USB1 (R19W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013673	NM_024598.4(USB1):c.209G>A (p.Arg70Gln)	USB1 (R19Q +1 more)	Single nucleotide variant (missense variant)	Poikiloderma with neutropenia +1 more	GUncertain significance
Select item 2161125	NM_024598.4(USB1):c.211G>A (p.Val71Met)	USB1 (V71M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769901	NM_024598.4(USB1):c.213G>A (p.Val71=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1337362	NM_024598.4(USB1):c.214C>T (p.Arg72Cys)	USB1 (R21C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1365470	NM_024598.4(USB1):c.215G>C (p.Arg72Pro)	USB1 (R72P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337810	NM_024598.4(USB1):c.215G>A (p.Arg72His)	USB1 (R21H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1426220	NM_024598.4(USB1):c.224C>T (p.Pro75Leu)	USB1 (P24L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425794	NM_024598.4(USB1):c.226C>A (p.His76Asn)	USB1 (H76N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140723	NM_024598.4(USB1):c.228C>T (p.His76=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171118	NM_024598.4(USB1):c.229G>A (p.Glu77Lys)	USB1 (E26K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523541	NM_024598.4(USB1):c.231G>T (p.Glu77Asp)	USB1 (E26D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496751	NM_024598.4(USB1):c.232C>T (p.Arg78Ter)	USB1 (R78* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	Gnot provided
Select item 1337512	NM_024598.4(USB1):c.240C>G (p.Asn80Lys)	USB1 (N29K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156347	NM_024598.4(USB1):c.243G>A (p.Trp81Ter)	USB1 (W81* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	GPathogenic
Select item 1547394	NM_024598.4(USB1):c.252C>T (p.His84=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028327	NM_024598.4(USB1):c.253G>A (p.Val85Ile)	USB1 (V34I +1 more)	Single nucleotide variant (missense variant)	Poikiloderma with neutropenia +1 more	GUncertain significance
Select item 1349857	NM_024598.4(USB1):c.255C>T (p.Val85=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003071	NM_024598.4(USB1):c.257A>G (p.Tyr86Cys)	USB1 (Y35C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170362	NM_024598.4(USB1):c.258T>C (p.Tyr86=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 496752	NM_024598.4(USB1):c.258T>A (p.Tyr86Ter)	USB1 (Y86* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	Gnot provided
Select item 2155832	NM_024598.4(USB1):c.259G>A (p.Val87Ile)	USB1 (V36I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 496753	NM_024598.4(USB1):c.265+2T>G	USB1	Single nucleotide variant (splice donor variant)	Poikiloderma with neutropenia	Gnot provided

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