8890[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 335530	NM_001034116.2(EIF2B4):c.*39C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 335531	NM_001034116.2(EIF2B4):c.*1C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
Select item 2819823	NM_001034116.2(EIF2B4):c.1569G>A (p.Gln523=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1705089	NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter)	EIF2B4, GTF3C2-AS2 (Q317* +7 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 2842531	NM_001034116.2(EIF2B4):c.1566C>T (p.Asp522=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488092	NM_001034116.2(EIF2B4):c.1564G>A (p.Asp522Asn)	EIF2B4, GTF3C2-AS2 (D521N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2035650	NM_001034116.2(EIF2B4):c.1561delinsTC (p.Ser521_Asp522insTer)	EIF2B4, GTF3C2-AS2	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1459103	NM_001034116.2(EIF2B4):c.1551A>C (p.Arg517=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853688	NM_001034116.2(EIF2B4):c.1536A>G (p.Val512=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887044	NM_001034116.2(EIF2B4):c.1533T>C (p.Ser511=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825980	NM_001034116.2(EIF2B4):c.1510C>T (p.Leu504=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146969	NM_001034116.2(EIF2B4):c.1506G>A (p.Thr502=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631858	NM_001034116.2(EIF2B4):c.1505C>T (p.Thr502Met)	EIF2B4, GTF3C2-AS2 (T501M +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2887876	NM_001034116.2(EIF2B4):c.1491G>A (p.Val497=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 895509	NM_001034116.2(EIF2B4):c.1488T>C (p.Leu496=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease	GUncertain significance
Select item 1715455	NM_001034116.2(EIF2B4):c.1480C>T (p.Pro494Ser)	GTF3C2-AS2, EIF2B4 (P288S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748063	NM_001034116.2(EIF2B4):c.1476T>G (p.Thr492=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541743	NM_001034116.2(EIF2B4):c.1470T>C (p.Asp490=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4122	NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)	EIF2B4, GTF3C2-AS2 (Y489H +7 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 2321604	NM_001034116.2(EIF2B4):c.1462G>A (p.Val488Ile)	EIF2B4, GTF3C2-AS2 (V488I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2818566	NM_001034116.2(EIF2B4):c.1459C>T (p.Leu487=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429423	NM_001034116.2(EIF2B4):c.1457A>G (p.Asn486Ser)	EIF2B4, GTF3C2-AS2 (N280S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523322	NM_001034116.2(EIF2B4):c.1448G>A (p.Arg483Gln)	EIF2B4, GTF3C2-AS2 (R288Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671575	NM_001034116.2(EIF2B4):c.1447C>T (p.Arg483Trp)	EIF2B4, GTF3C2-AS2 (R277W +6 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 2070667	NM_001034116.2(EIF2B4):c.1440A>G (p.Ala480=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412312	NM_001034116.2(EIF2B4):c.1438G>A (p.Ala480Thr)	EIF2B4, GTF3C2-AS2 (A274T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002641	NM_001034116.2(EIF2B4):c.1437C>T (p.His479=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888871	NM_001034116.2(EIF2B4):c.1422T>C (p.Ala474=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730533	NM_001034116.2(EIF2B4):c.1416G>A (p.Ala472=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2259322	NM_001034116.2(EIF2B4):c.1415C>A (p.Ala472Glu)	EIF2B4, GTF3C2-AS2 (A471E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1978854	NM_001034116.2(EIF2B4):c.1412T>A (p.Val471Asp)	EIF2B4, GTF3C2-AS2 (V456D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248503	NM_001034116.2(EIF2B4):c.1411G>T (p.Val471Phe)	EIF2B4, GTF3C2-AS2 (V491F +7 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4 +1 more	GUncertain significance
Select item 896911	NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)	EIF2B4, GTF3C2-AS2 (R452Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287459	NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)	EIF2B4, GTF3C2-AS2 (R466W +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2911667	NM_001034116.2(EIF2B4):c.1398G>A (p.Lys466=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4121	NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg)	EIF2B4, GTF3C2-AS2 (C465R +7 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 335532	NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +3 more	GBenign/Likely benign
Select item 2729483	NM_001034116.2(EIF2B4):c.1389G>A (p.Leu463=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 335533	NM_001034116.2(EIF2B4):c.1383T>C (p.Asp461=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 2762705	NM_001034116.2(EIF2B4):c.1374T>C (p.Asp458=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 335534	NM_001034116.2(EIF2B4):c.1373-4G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	Vanishing white matter disease	GUncertain significance
Select item 2878134	NM_001034116.2(EIF2B4):c.1373-7A>T	GTF3C2-AS2, EIF2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955859	NM_001034116.2(EIF2B4):c.1373-14G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869920	NM_001034116.2(EIF2B4):c.1373-14G>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535661	NM_001034116.2(EIF2B4):c.1373-15C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991722	NM_001034116.2(EIF2B4):c.1373-18G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895954	NM_001034116.2(EIF2B4):c.1373-19G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771759	NM_001034116.2(EIF2B4):c.1372+19A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 167036	NM_001034116.2(EIF2B4):c.1372+13A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3004529	NM_001034116.2(EIF2B4):c.1372+12A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998227	NM_001034116.2(EIF2B4):c.1372+10C>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765375	NM_001034116.2(EIF2B4):c.1372+9G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591806	NM_001034116.2(EIF2B4):c.1365T>A (p.Asn455Lys)	EIF2B4, GTF3C2-AS2 (N455K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696338	NM_001034116.2(EIF2B4):c.1346C>T (p.Thr449Ile)	EIF2B4, GTF3C2-AS2 (T243I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692765	NM_001034116.2(EIF2B4):c.1331_1344del (p.Cys444fs)	EIF2B4, GTF3C2-AS2 (C413fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1421804	NM_001034116.2(EIF2B4):c.1339G>A (p.Val447Met)	EIF2B4, GTF3C2-AS2 (V241M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203029	NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His)	EIF2B4, GTF3C2-AS2 (R251H +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 1403455	NM_001034116.2(EIF2B4):c.1322A>G (p.Tyr441Cys)	EIF2B4, GTF3C2-AS2 (Y462C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131836	NM_001034116.2(EIF2B4):c.1311C>T (p.Cys437=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 335535	NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe)	EIF2B4, GTF3C2-AS2 (C436F +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2869618	NM_001034116.2(EIF2B4):c.1305G>A (p.Leu435=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797099	NM_001034116.2(EIF2B4):c.1303C>T (p.Leu435=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749724	NM_001034116.2(EIF2B4):c.1302G>T (p.Val434=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006179	NM_001034116.2(EIF2B4):c.1298C>T (p.Pro433Leu)	EIF2B4, GTF3C2-AS2 (P418L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788963	NM_001034116.2(EIF2B4):c.1293T>C (p.Asn431=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803175	NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)	EIF2B4, GTF3C2-AS2 (N225D +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2956387	NM_001034116.2(EIF2B4):c.1275G>A (p.Leu425=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881253	NM_001034116.2(EIF2B4):c.1257G>A (p.Gly419=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417167	NM_001034116.2(EIF2B4):c.1249C>T (p.Arg417Trp)	EIF2B4, GTF3C2-AS2 (R416W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792119	NM_001034116.2(EIF2B4):c.1248A>G (p.Ser416=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992856	NM_001034116.2(EIF2B4):c.1236G>A (p.Gly412=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 95737	NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2710295	NM_001034116.2(EIF2B4):c.1230C>T (p.Ala410=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962787	NM_001034116.2(EIF2B4):c.1221A>G (p.Ala407=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628202	NM_001034116.2(EIF2B4):c.1218T>C (p.His406=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794697	NM_001034116.2(EIF2B4):c.1207T>C (p.Leu403=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805539	NM_001034116.2(EIF2B4):c.1206A>G (p.Leu402=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972325	NM_001034116.2(EIF2B4):c.1204C>T (p.Leu402=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390878	NM_001034116.2(EIF2B4):c.1201G>A (p.Val401Met)	EIF2B4, GTF3C2-AS2 (V400M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840719	NM_001034116.2(EIF2B4):c.1192-5A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995547	NM_001034116.2(EIF2B4):c.1192-9G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972417	NM_001034116.2(EIF2B4):c.1192-12_1192-10del	EIF2B4, GTF3C2-AS2	Deletion (intron variant)	not provided	GLikely benign
Select item 3007705	NM_001034116.2(EIF2B4):c.1192-12C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829662	NM_001034116.2(EIF2B4):c.1192-14C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640130	NM_001034116.2(EIF2B4):c.1192-16T>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781166	NM_001034116.2(EIF2B4):c.1192-19C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788810	NM_001034116.2(EIF2B4):c.1192-20C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649207	NM_001034116.2(EIF2B4):c.1192-20C>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230939	NM_001034116.2(EIF2B4):c.1192-158del	EIF2B4, GTF3C2-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1275286	NM_001034116.2(EIF2B4):c.1191+81_1191+82insAA	EIF2B4, GTF3C2-AS2	Insertion (intron variant)	not provided	GBenign
Select item 2842426	NM_001034116.2(EIF2B4):c.1191+20A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827153	NM_001034116.2(EIF2B4):c.1191+20A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797461	NM_001034116.2(EIF2B4):c.1191+19del	EIF2B4, GTF3C2-AS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1919324	NM_001034116.2(EIF2B4):c.1191+17A>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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