UNC93B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 647947	NC_000011.9:g.(?_67758997)_(67759348_?)dup	UNC93B1	Duplication	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 583773	NC_000011.9:g.(?_67758997)_(67761285_?)dup	UNC93B1	Duplication	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 666065	NM_030930.4(UNC93B1):c.1792T>G (p.Ter598Gly)	UNC93B1	Single nucleotide variant (stop lost)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1045613	NM_030930.4(UNC93B1):c.1791G>C (p.Gln597His)	UNC93B1 (Q597H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 933307	NM_030930.4(UNC93B1):c.1785G>C (p.Glu595Asp)	UNC93B1 (E595D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 537940	NM_030930.4(UNC93B1):c.1779G>A (p.Gly593=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2384733	NM_030930.4(UNC93B1):c.1778G>A (p.Gly593Glu)	UNC93B1 (G593E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834530	NM_030930.4(UNC93B1):c.1777G>A (p.Gly593Arg)	UNC93B1 (G593R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 794064	NM_030930.4(UNC93B1):c.1773A>G (p.Gly591=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1436272	NM_030930.4(UNC93B1):c.1772del (p.Gly591fs)	UNC93B1 (G591fs)	Deletion (frameshift variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 779710	NM_030930.4(UNC93B1):c.1772G>A (p.Gly591Glu)	UNC93B1 (G591E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1052109	NM_030930.4(UNC93B1):c.1768G>C (p.Gly590Arg)	UNC93B1 (G590R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 577794	NM_030930.4(UNC93B1):c.1768G>A (p.Gly590Arg)	UNC93B1 (G590R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 470495	NM_030930.4(UNC93B1):c.1768G>T (p.Gly590Trp)	UNC93B1 (G590W)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GBenign
Select item 1475538	NM_030930.4(UNC93B1):c.1747T>C (p.Cys583Arg)	UNC93B1 (C583R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2150825	NM_030930.4(UNC93B1):c.1745C>T (p.Pro582Leu)	UNC93B1 (P582L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1036399	NM_030930.4(UNC93B1):c.1742G>T (p.Arg581Leu)	UNC93B1 (R581L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 645257	NM_030930.4(UNC93B1):c.1735G>C (p.Gly579Arg)	UNC93B1 (G579R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1021202	NM_030930.4(UNC93B1):c.1733T>G (p.Leu578Arg)	UNC93B1 (L578R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1476751	NM_030930.4(UNC93B1):c.1729G>A (p.Gly577Arg)	UNC93B1 (G577R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1469925	NM_030930.4(UNC93B1):c.1726G>A (p.Ala576Thr)	UNC93B1 (A576T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 663159	NM_030930.4(UNC93B1):c.1726G>C (p.Ala576Pro)	UNC93B1 (A576P)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1603766	NM_030930.4(UNC93B1):c.1725C>T (p.Pro575=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 782776	NM_030930.4(UNC93B1):c.1725C>G (p.Pro575=)	UNC93B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 470494	NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln)	UNC93B1 (P575Q)	Indel (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GBenign/Likely benign
Select item 782777	NM_030930.4(UNC93B1):c.1724C>A (p.Pro575His)	UNC93B1 (P575H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GBenign/Likely benign
Select item 583008	NM_030930.4(UNC93B1):c.1720G>C (p.Glu574Gln)	UNC93B1 (E574Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 950015	NM_030930.4(UNC93B1):c.1717C>G (p.Pro573Ala)	UNC93B1 (P573A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1475950	NM_030930.4(UNC93B1):c.1715G>T (p.Gly572Val)	UNC93B1 (G572V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3331101	NM_030930.4(UNC93B1):c.1714G>T (p.Gly572Cys)	UNC93B1 (G572C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1168665	NM_030930.4(UNC93B1):c.1713T>C (p.Pro571=)	UNC93B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1400321	NM_030930.4(UNC93B1):c.1709G>A (p.Arg570Lys)	UNC93B1 (R570K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 650678	NM_030930.4(UNC93B1):c.1703G>A (p.Gly568Glu)	UNC93B1 (G568E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1586872	NM_030930.4(UNC93B1):c.1701A>G (p.Ala567=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1428381	NM_030930.4(UNC93B1):c.1699G>A (p.Ala567Thr)	UNC93B1 (A567T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 946257	NM_030930.4(UNC93B1):c.1675G>C (p.Gly559Arg)	UNC93B1 (G559R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3027389	NM_030930.4(UNC93B1):c.1668_1674delinsAGGGAA (p.His556fs)	UNC93B1 (H556fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1491197	NM_030930.4(UNC93B1):c.1663G>A (p.Glu555Lys)	UNC93B1 (E555K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 470493	NM_030930.4(UNC93B1):c.1661G>A (p.Gly554Asp)	UNC93B1 (G554D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 644480	NM_030930.4(UNC93B1):c.1657G>A (p.Glu553Lys)	UNC93B1 (E553K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2819667	NM_030930.4(UNC93B1):c.1656G>C (p.Ala552=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1002681	NM_030930.4(UNC93B1):c.1651G>A (p.Asp551Asn)	UNC93B1 (D551N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 844361	NM_030930.4(UNC93B1):c.1647G>T (p.Glu549Asp)	UNC93B1 (E549D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 3338157	NM_030930.4(UNC93B1):c.1632_1644delinsCAACTCGGAG (p.Glu544_Asp548delinsAspAsnSerGlu)	UNC93B1	Indel (inframe_indel)	Immunodeficiency	GLikely pathogenic
Select item 842740	NM_030930.4(UNC93B1):c.1640C>T (p.Ser547Leu)	UNC93B1 (S547L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1002427	NM_030930.4(UNC93B1):c.1636A>G (p.Asn546Asp)	UNC93B1 (N546D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 857970	NM_030930.4(UNC93B1):c.1635C>A (p.Asp545Glu)	UNC93B1 (D545E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 958169	NM_030930.4(UNC93B1):c.1626GGA[2] (p.Glu544del)	UNC93B1 (E544del)	Microsatellite (inframe_deletion)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 860382	NM_030930.4(UNC93B1):c.1633_1634delinsTT (p.Asp545Phe)	UNC93B1 (D545F)	Indel (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2402054	NM_030930.4(UNC93B1):c.1632G>T (p.Glu544Asp)	UNC93B1 (E544D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 537930	NM_030930.4(UNC93B1):c.1629G>A (p.Glu543=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GLikely benign
Select item 2164871	NM_030930.4(UNC93B1):c.1611C>T (p.Arg537=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2909609	NM_030930.4(UNC93B1):c.1605G>A (p.Lys535=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2881098	NM_030930.4(UNC93B1):c.1596C>G (p.Pro532=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 470492	NM_030930.4(UNC93B1):c.1594C>A (p.Pro532Thr)	UNC93B1 (P532T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2103378	NM_030930.4(UNC93B1):c.1578G>A (p.Gln526=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1468247	NM_030930.4(UNC93B1):c.1578del (p.Gln526fs)	UNC93B1 (Q526fs)	Deletion (frameshift variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2111302	NM_030930.4(UNC93B1):c.1574_1575delinsCT (p.Arg525Pro)	UNC93B1 (R525P)	Indel (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2968674	NM_030930.4(UNC93B1):c.1572G>T (p.Pro524=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2996751	NM_030930.4(UNC93B1):c.1563C>T (p.Gly521=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1147454	NM_030930.4(UNC93B1):c.1563C>G (p.Gly521=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1400324	NM_030930.4(UNC93B1):c.1557_1561del (p.Val522fs)	UNC93B1 (V522fs)	Deletion (frameshift variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 537929	NM_030930.4(UNC93B1):c.1560G>C (p.Arg520=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 537932	NM_030930.4(UNC93B1):c.1557C>G (p.Arg519=)	UNC93B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1370097	NM_030930.4(UNC93B1):c.1526T>A (p.Val509Asp)	UNC93B1 (V509D)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1141982	NM_030930.4(UNC93B1):c.1518G>A (p.Ala506=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1138094	NM_030930.4(UNC93B1):c.1518G>T (p.Ala506=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 856121	NM_030930.4(UNC93B1):c.1504G>T (p.Val502Leu)	UNC93B1 (V502L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 762880	NM_030930.4(UNC93B1):c.1498C>T (p.Leu500=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1166997	NM_030930.4(UNC93B1):c.1495G>A (p.Val499Met)	UNC93B1 (V499M)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GBenign
Select item 1405251	NM_030930.4(UNC93B1):c.1492G>A (p.Ala498Thr)	UNC93B1 (A498T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1011222	NM_030930.4(UNC93B1):c.1488G>T (p.Lys496Asn)	UNC93B1 (K496N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1638334	NM_030930.4(UNC93B1):c.1483-8dup	UNC93B1	Duplication (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2988901	NM_030930.4(UNC93B1):c.1483-12C>A	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2785100	NM_030930.4(UNC93B1):c.1483-14C>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2761883	NM_030930.4(UNC93B1):c.1483-16C>A	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1370091	NM_030930.4(UNC93B1):c.1482+16G>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3019265	NM_030930.4(UNC93B1):c.1482+15G>A	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 660100	NM_030930.4(UNC93B1):c.1482+2T>A	UNC93B1	Single nucleotide variant (splice donor variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1396747	NM_030930.4(UNC93B1):c.1477A>G (p.Met493Val)	UNC93B1 (M493V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2642025	NM_030930.4(UNC93B1):c.1467G>T (p.Ser489=)	UNC93B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784570	NM_030930.4(UNC93B1):c.1467G>A (p.Ser489=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1054392	NM_030930.4(UNC93B1):c.1466C>T (p.Ser489Leu)	UNC93B1 (S489L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2047276	NM_030930.4(UNC93B1):c.1462G>A (p.Gly488Ser)	UNC93B1 (G488S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2105194	NM_030930.4(UNC93B1):c.1459C>T (p.Leu487=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 470491	NM_030930.4(UNC93B1):c.1453G>A (p.Val485Met)	UNC93B1 (V485M)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GBenign/Likely benign
Select item 1158426	NM_030930.4(UNC93B1):c.1452C>A (p.Thr484=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1097661	NM_030930.4(UNC93B1):c.1452C>T (p.Thr484=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2274300	NM_030930.4(UNC93B1):c.1451C>T (p.Thr484Ile)	UNC93B1 (T484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779602	NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GBenign
Select item 2183412	NM_030930.4(UNC93B1):c.1448T>C (p.Phe483Ser)	UNC93B1 (F483S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2742706	NM_030930.4(UNC93B1):c.1404C>T (p.Asp468=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 1046230	NM_030930.4(UNC93B1):c.1384G>A (p.Glu462Lys)	UNC93B1 (E462K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 741621	NM_030930.4(UNC93B1):c.1383C>T (p.Tyr461=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2112203	NM_030930.4(UNC93B1):c.1373G>C (p.Gly458Ala)	UNC93B1 (G458A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 955611	NM_030930.4(UNC93B1):c.1373G>A (p.Gly458Glu)	UNC93B1 (G458E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1386934	NM_030930.4(UNC93B1):c.1364C>T (p.Thr455Ile)	UNC93B1 (T455I)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1037665	NM_030930.4(UNC93B1):c.1364-6C>G	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign

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