Related gene-specific medical variations for Gene (Select 81622) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359228	NM_030930.4(UNC93B1):c.1006C>T (p.Arg336Cys)	UNC93B1 (R336C)	Single nucleotide variant (missense variant)	UNC93B1-related disorder	GLikely pathogenic
Select item 3338157	NM_030930.4(UNC93B1):c.1632_1644delinsCAACTCGGAG (p.Glu544_Asp548delinsAspAsnSerGlu)	UNC93B1	Indel (inframe_indel)	Immunodeficiency	GLikely pathogenic
Select item 3186705	NM_030930.4(UNC93B1):c.226G>C (p.Gly76Arg)	LOC130006235, UNC93B1 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2982027	NM_030930.4(UNC93B1):c.108G>A (p.Leu36=)	LOC130006235, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2955077	NM_030930.4(UNC93B1):c.235C>T (p.Leu79=)	LOC130006235, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2907558	NM_030930.4(UNC93B1):c.210G>A (p.Gly70=)	LOC130006235, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2807440	NM_030930.4(UNC93B1):c.97-15G>A	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2688062	NM_030930.4(UNC93B1):c.906+90A>G	LOC121832795, UNC93B1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2480835	NM_030930.4(UNC93B1):c.288G>T (p.Glu96Asp)	LOC130006234, UNC93B1 (E96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2155589	NM_030930.4(UNC93B1):c.238+17G>T	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2147148	NM_030930.4(UNC93B1):c.97-19C>T	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2140357	NM_030930.4(UNC93B1):c.309G>T (p.Gly103=)	LOC130006234, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2119999	NM_030930.4(UNC93B1):c.177C>A (p.Gly59=)	LOC130006235, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2110346	NM_030930.4(UNC93B1):c.214A>G (p.Met72Val)	LOC130006235, UNC93B1 (M72V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2072602	NM_030930.4(UNC93B1):c.198T>C (p.Ala66=)	LOC130006235, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2070300	NM_030930.4(UNC93B1):c.170G>T (p.Arg57Leu)	LOC130006235, UNC93B1 (R57L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1912890	NM_030930.4(UNC93B1):c.161G>A (p.Arg54His)	LOC130006235, UNC93B1 (R54H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1496906	NM_030930.4(UNC93B1):c.103G>A (p.Glu35Lys)	LOC130006235, UNC93B1 (E35K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1481553	NM_030930.4(UNC93B1):c.155A>G (p.Tyr52Cys)	LOC130006235, UNC93B1 (Y52C)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1434667	NM_030930.4(UNC93B1):c.238+4G>T	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1416313	NM_030930.4(UNC93B1):c.286G>C (p.Glu96Gln)	LOC130006234, UNC93B1 (E96Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1403467	NM_030930.4(UNC93B1):c.133G>C (p.Glu45Gln)	LOC130006235, UNC93B1 (E45Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1401927	NM_030930.4(UNC93B1):c.190G>C (p.Val64Leu)	LOC130006235, UNC93B1 (V64L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1401543	NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter)	LOC130006234, UNC93B1 (E96*)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 1	GPathogenic
Select item 1387933	NM_030930.4(UNC93B1):c.97-12C>A	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1345853	NM_030930.4(UNC93B1):c.284G>A (p.Arg95His)	LOC130006234, UNC93B1 (R95H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1060974	NM_030930.4(UNC93B1):c.274G>A (p.Glu92Lys)	LOC130006234, UNC93B1 (E92K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1046746	NM_030930.4(UNC93B1):c.133GAG[4] (p.Glu49del)	LOC130006235, UNC93B1 (E49del)	Microsatellite (inframe_deletion)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 1022414	NM_030930.4(UNC93B1):c.136G>A (p.Glu46Lys)	LOC130006235, UNC93B1 (E46K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 1008482	NM_030930.4(UNC93B1):c.125A>G (p.Asn42Ser)	LOC130006235, UNC93B1 (N42S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 960684	NM_030930.4(UNC93B1):c.160C>A (p.Arg54Ser)	LOC130006235, UNC93B1 (R54S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 957021	NM_030930.4(UNC93B1):c.226G>A (p.Gly76Ser)	LOC130006235, UNC93B1 (G76S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 872445	NM_030930.4(UNC93B1):c.275A>G (p.Glu92Gly)	LOC130006234, UNC93B1 (E92G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 844807	NM_030930.4(UNC93B1):c.151C>G (p.Arg51Gly)	UNC93B1, LOC130006235 (R51G)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 794654	NM_030930.4(UNC93B1):c.225C>T (p.Tyr75=)	LOC130006235, UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 791682	NM_030930.4(UNC93B1):c.97-6T>C	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 785364	NM_030930.4(UNC93B1):c.97-8G>T	LOC130006235, UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GBenign
Select item 654962	NM_030930.4(UNC93B1):c.193C>G (p.Leu65Val)	LOC130006235, UNC93B1 (L65V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 638935	NM_030930.4(UNC93B1):c.190G>A (p.Val64Met)	LOC130006235, UNC93B1 (V64M)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 626042	NM_030930.4(UNC93B1):c.148C>A (p.Arg50Ser)	LOC130006235, UNC93B1 (R50S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 470496	NM_030930.4(UNC93B1):c.183C>T (p.Leu61=)	UNC93B1, LOC130006235	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GLikely benign
Select item 470490	NM_030930.4(UNC93B1):c.135G>A (p.Glu45=)	UNC93B1, LOC130006235	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 235674	NM_030930.4(UNC93B1):c.1120C>G (p.Arg374Gly)	UNC93B1 (R374G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 43