ClinVar for Gene (Select 81622) - ClinVar - NCBI

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	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 3331101	NM_030930.4(UNC93B1):c.1714G>T (p.Gly572Cys)	UNC93B1 (G572C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186707	NM_030930.4(UNC93B1):c.469C>T (p.Arg157Cys)	UNC93B1 (R157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186706	NM_030930.4(UNC93B1):c.421C>T (p.Leu141Phe)	UNC93B1 (L141F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3186704	NM_030930.4(UNC93B1):c.1070C>T (p.Ala357Val)	UNC93B1 (A357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3027389	NM_030930.4(UNC93B1):c.1668_1674delinsAGGGAA (p.His556fs)	UNC93B1 (H556fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3023533	NM_030930.4(UNC93B1):c.96+15G>A	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3023446	NM_030930.4(UNC93B1):c.480G>A (p.Thr160=)	UNC93B1	Single nucleotide variant (synonymous 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 3009167	NM_030930.4(UNC93B1):c.84G>C (p.Gly28=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3007665	NM_030930.4(UNC93B1):c.1134C>T (p.Leu378=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 3003578	NM_030930.4(UNC93B1):c.69C>A (p.Leu23=)	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 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 2987886	NM_030930.4(UNC93B1):c.600T>C (p.Asp200=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
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 2974030	NM_030930.4(UNC93B1):c.1363+19A>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
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 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 2919266	NM_030930.4(UNC93B1):c.687+12G>A	UNC93B1	Single nucleotide variant (intron 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 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 2903451	NM_030930.4(UNC93B1):c.782-18C>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2899124	NM_030930.4(UNC93B1):c.393-14C>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2893868	NM_030930.4(UNC93B1):c.1090-4G>A	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2889807	NM_030930.4(UNC93B1):c.393-11A>G	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2886188	NM_030930.4(UNC93B1):c.1090-5C>T	UNC93B1	Single nucleotide variant (intron 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 2874365	NM_030930.4(UNC93B1):c.42G>C (p.Ala14=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2853916	NM_030930.4(UNC93B1):c.1363+18_1363+19insTAT	UNC93B1	Insertion (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2851802	NM_030930.4(UNC93B1):c.1092C>T (p.Gly364=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2828275	NM_030930.4(UNC93B1):c.21C>A (p.Leu7=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
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 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 2799621	NM_030930.4(UNC93B1):c.239-17C>G	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2793336	NM_030930.4(UNC93B1):c.1155C>G (p.Gly385=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2785289	NM_030930.4(UNC93B1):c.906+10G>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 2782842	NM_030930.4(UNC93B1):c.1189C>T (p.Leu397=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2769559	NM_030930.4(UNC93B1):c.627G>A (p.Pro209=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2766093	NM_030930.4(UNC93B1):c.561G>A (p.Ala187=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2762185	NM_030930.4(UNC93B1):c.555-6G>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 2759670	NM_030930.4(UNC93B1):c.492G>A (p.Ser164=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2753885	NM_030930.4(UNC93B1):c.1083C>T (p.Ile361=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2749470	NM_030930.4(UNC93B1):c.604C>A (p.Gln202Lys)	UNC93B1 (Q202K)	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 2741652	NM_030930.4(UNC93B1):c.688-14C>G	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2730187	NM_030930.4(UNC93B1):c.392+8C>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2712681	NM_030930.4(UNC93B1):c.906+9C>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2712308	NM_030930.4(UNC93B1):c.750G>C (p.Leu250=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2710002	NM_030930.4(UNC93B1):c.781+1G>A	UNC93B1	Single nucleotide variant (splice donor variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely pathogenic
Select item 2705350	NM_030930.4(UNC93B1):c.1345_1363+52del	UNC93B1	Deletion (splice donor variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely pathogenic
Select item 2688062	NM_030930.4(UNC93B1):c.906+90A>G	LOC121832795, UNC93B1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688022	NM_030930.4(UNC93B1):c.1090-74dup	UNC93B1	Duplication (intron variant)	not specified	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642026	NM_030930.4(UNC93B1):c.555-78G>T	UNC93B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642025	NM_030930.4(UNC93B1):c.1467G>T (p.Ser489=)	UNC93B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558491	NM_030930.4(UNC93B1):c.1298G>T (p.Trp433Leu)	UNC93B1 (W433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2478558	NM_030930.4(UNC93B1):c.440C>G (p.Ala147Gly)	UNC93B1 (A147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426954	NC_000011.9:g.(?_67761127)_(67761285_?)dup	UNC93B1	Duplication	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424414	NC_000011.9:g.(?_67759017)_(68216538_?)dup	ALDH3B1, C11orf24 +6 more	Duplication	not provided	GUncertain significance
Select item 2420391	NM_030930.4(UNC93B1):c.1090-18C>T	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2416193	NM_030930.4(UNC93B1):c.67C>T (p.Leu23Phe)	UNC93B1 (L23F)	Single nucleotide variant (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 2384733	NM_030930.4(UNC93B1):c.1778G>A (p.Gly593Glu)	UNC93B1 (G593E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330711	NM_030930.4(UNC93B1):c.338T>C (p.Met113Thr)	UNC93B1 (M113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2255730	NM_030930.4(UNC93B1):c.791G>A (p.Ser264Asn)	UNC93B1 (S264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241952	NM_030930.4(UNC93B1):c.1249T>C (p.Phe417Leu)	UNC93B1 (F417L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2188038	NM_030930.4(UNC93B1):c.620G>A (p.Arg207Gln)	UNC93B1 (R207Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
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 2180353	NM_030930.4(UNC93B1):c.393G>A (p.Arg131=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2180119	NM_030930.4(UNC93B1):c.390C>T (p.Ile130=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2179500	NM_030930.4(UNC93B1):c.343A>G (p.Ile115Val)	UNC93B1 (I115V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2170643	NM_030930.4(UNC93B1):c.554+9G>A	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	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 2164070	NM_030930.4(UNC93B1):c.547A>G (p.Ile183Val)	UNC93B1 (I183V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2161751	NM_030930.4(UNC93B1):c.558G>A (p.Met186Ile)	UNC93B1 (M186I)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	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 2153852	NM_030930.4(UNC93B1):c.1202G>A (p.Arg401His)	UNC93B1 (R401H)	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 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 2146255	NM_030930.4(UNC93B1):c.1209G>A (p.Val403=)	UNC93B1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 1	GLikely benign
Select item 2143956	NM_030930.4(UNC93B1):c.641C>T (p.Ala214Val)	UNC93B1 (A214V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2140972	NM_030930.4(UNC93B1):c.516C>T (p.Ile172=)	UNC93B1	Single nucleotide variant (synonymous 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 2120595	NM_030930.4(UNC93B1):c.907-18C>G	UNC93B1	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
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 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 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 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 2110309	NM_030930.4(UNC93B1):c.1250T>C (p.Phe417Ser)	UNC93B1 (F417S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 2105544	NM_030930.4(UNC93B1):c.1014C>T (p.Tyr338=)	UNC93B1	Single nucleotide variant (synonymous 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

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