Malanea centralis - ClinVar - NCBI

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The following term was not found in ClinVar: Malanea.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 875157	NM_020365.5(EIF2B3):c.*401T>C	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GLikely benign
Select item 876121	NM_020365.5(EIF2B3):c.*282G>A	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 876122	NM_020365.5(EIF2B3):c.*266C>T	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297439	NM_020365.5(EIF2B3):c.*201C>G	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 876123	NM_020365.5(EIF2B3):c.*55C>T	EIF2B3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 297440	NM_020365.5(EIF2B3):c.1319A>G (p.Asn440Ser)	EIF2B3 (N440S)	Single nucleotide variant (3 prime UTR variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 297441	NM_020365.5(EIF2B3):c.1287C>T (p.Gly429=)	EIF2B3	Single nucleotide variant (intron variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 870560	NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr)	EIF2B3 (I426T)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 876124	NM_020365.5(EIF2B3):c.1274T>G (p.Leu425Trp)	EIF2B3 (L425W)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 876125	NM_020365.5(EIF2B3):c.1208A>G (p.Asn403Ser)	EIF2B3 (N403S)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +1 more	GUncertain significance
Select item 95945	NM_020365.5(EIF2B3):c.1202+8T>G	EIF2B3 (S404A)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 297442	NM_020365.5(EIF2B3):c.1201G>A (p.Gly401Arg)	EIF2B3 (G401R +1 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 877070	NM_020365.5(EIF2B3):c.1141A>G (p.Ile381Val)	EIF2B3 (I381V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 877071	NM_020365.5(EIF2B3):c.1130C>T (p.Ser377Leu)	EIF2B3 (S377L)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 4440	NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr)	EIF2B3 (I346T)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 3	GPathogenic
Select item 716801	NM_020365.5(EIF2B3):c.983A>G (p.Lys328Arg)	EIF2B3 (K328R)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 261224	NM_020365.5(EIF2B3):c.975+9A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 877072	NM_020365.5(EIF2B3):c.864C>G (p.Asp288Glu)	EIF2B3 (D288E)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 210933	NM_020365.5(EIF2B3):c.833A>G (p.Tyr278Cys)	EIF2B3 (Y278C)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GUncertain significance
Select item 874279	NM_020365.5(EIF2B3):c.785-6C>G	EIF2B3	Single nucleotide variant (intron variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 297443	NM_020365.5(EIF2B3):c.743A>G (p.Glu248Gly)	EIF2B3 (E248G)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 617735	NM_020365.5(EIF2B3):c.706C>G (p.Gln236Glu)	EIF2B3 (Q236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691306	NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)	EIF2B3 (I229M)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GConflicting classifications of pathogenicity
Select item 1285271	NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro)	EIF2B3 (R225P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
Select item 297444	NM_020365.5(EIF2B3):c.634G>A (p.Val212Met)	EIF2B3 (V212M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 261221	NM_020365.5(EIF2B3):c.633C>T (p.Ile211=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 297445	NM_020365.5(EIF2B3):c.591G>A (p.Thr197=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 972716	NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro)	EIF2B3 (L168P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 874280	NM_020365.5(EIF2B3):c.464G>A (p.Arg155His)	EIF2B3 (R155H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GUncertain significance
Select item 1032836	NM_020365.5(EIF2B3):c.442A>G (p.Lys148Glu)	EIF2B3 (K148E)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 297446	NM_020365.5(EIF2B3):c.439G>C (p.Gly147Arg)	EIF2B3 (G147R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 874281	NM_020365.5(EIF2B3):c.430G>A (p.Gly144Ser)	EIF2B3 (G144S)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 297447	NM_020365.5(EIF2B3):c.388A>G (p.Met130Val)	EIF2B3 (M130V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 875215	NM_020365.5(EIF2B3):c.277A>G (p.Ile93Val)	EIF2B3 (I93V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 431961	NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)	EIF2B3 (R91H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 4439	NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)	EIF2B3 (A87V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 95947	NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign
Select item 500850	NM_020365.5(EIF2B3):c.224T>C (p.Ile75Thr)	EIF2B3 (I75T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 875216	NM_020365.5(EIF2B3):c.189A>G (p.Leu63=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297448	NM_020365.5(EIF2B3):c.189A>T (p.Leu63=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GBenign/Likely benign
Select item 95946	NM_020365.5(EIF2B3):c.149-4A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 876174	NM_020365.5(EIF2B3):c.134G>A (p.Arg45His)	EIF2B3 (R45H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +3 more	GUncertain significance
Select item 297449	NM_020365.5(EIF2B3):c.130G>A (p.Glu44Lys)	EIF2B3 (E44K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 560922	NM_020365.5(EIF2B3):c.97A>G (p.Lys33Glu)	EIF2B3 (K33E)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 617677	NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	EIF2B3 (V30A)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GLikely pathogenic
Select item 1496820	NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu)	EIF2B3 (P24L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297450	NM_020365.5(EIF2B3):c.44G>A (p.Arg15Gln)	EIF2B3 (R15Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876175	NM_020365.5(EIF2B3):c.15A>C (p.Ala5=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease	GUncertain significance
Select item 297451	NM_020365.5(EIF2B3):c.-26C>G	EIF2B3, LOC129930429	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297452	NM_020365.5(EIF2B3):c.-56G>A	EIF2B3, LOC129930429	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297453	NM_020365.5(EIF2B3):c.-72C>G	EIF2B3, LOC129930429	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 876176	NM_020365.4(EIF2B3):c.-155A>C	EIF2B3, LOC129930429	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 876313	NM_020365.4(EIF2B3):c.-172C>G	EIF2B3	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 876312	NM_020365.4(EIF2B3):c.-172C>T	EIF2B3	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 876314	NM_020365.4(EIF2B3):c.-181A>T	EIF2B3	Single nucleotide variant	Vanishing white matter disease	GBenign
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 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 +1 more	GConflicting classifications of pathogenicity
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 4122	NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)	EIF2B4, GTF3C2-AS2 (Y489H +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
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 335532	NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 335533	NM_001034116.2(EIF2B4):c.1383T>C (p.Asp461=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 167036	NM_001034116.2(EIF2B4):c.1372+13A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	Vanishing white matter disease +2 more	GBenign
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 335535	NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe)	EIF2B4, GTF3C2-AS2 (C436F +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
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 95737	NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign
Select item 896912	NM_001034116.2(EIF2B4):c.1191+13G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3339607	NM_001034116.2(EIF2B4):c.1183C>T (p.Leu395Phe)	EIF2B4, GTF3C2-AS2 (L189F +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 335536	NM_001034116.2(EIF2B4):c.1136C>T (p.Ala379Val)	EIF2B4, GTF3C2-AS2 (A378V +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 897412	NM_001034116.2(EIF2B4):c.1129G>C (p.Val377Leu)	EIF2B4, GTF3C2-AS2 (V182L +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 4117	NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln)	EIF2B4, GTF3C2-AS2 (R357Q +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 95736	NM_001034116.2(EIF2B4):c.1014-7A>G	GTF3C2-AS2, EIF2B4	Single nucleotide variant (intron variant)	Vanishing white matter disease +2 more	GBenign
Select item 335537	NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys)	EIF2B4, GTF3C2-AS2 (R320C +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GUncertain significance
Select item 335538	NM_001034116.2(EIF2B4):c.938T>C (p.Val313Ala)	EIF2B4, GTF3C2-AS2 (V312A +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GBenign/Likely benign
Select item 128990	NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)	EIF2B4, GTF3C2-AS2 (R306G +7 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 992664	NM_001034116.2(EIF2B4):c.866G>T (p.Ser289Ile)	EIF2B4, GTF3C2-AS2 (S258I +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 873017	NM_001034116.2(EIF2B4):c.866G>A (p.Ser289Asn)	EIF2B4, GTF3C2-AS2 (S258N +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 335539	NM_001034116.2(EIF2B4):c.812C>T (p.Ala271Val)	EIF2B4, GTF3C2-AS2 (A270V +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 897413	NM_001034116.2(EIF2B4):c.791C>A (p.Thr264Asn)	EIF2B4, GTF3C2-AS2 (T263N +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 128989	NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 420062	NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu)	EIF2B4, GTF3C2-AS2 (P242L +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 335540	NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala)	EIF2B4, GTF3C2-AS2 (T241A +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1699333	NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys)	EIF2B4 (G16C +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 420063	NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	EIF2B4 (R208Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 978266	NM_001034116.2(EIF2B4):c.551C>T (p.Pro184Leu)	EIF2B4 (P153L +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GLikely pathogenic
Select item 335541	NM_001034116.2(EIF2B4):c.515A>C (p.Asp172Ala)	EIF2B4 (D172A +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 2581282	NM_001034116.2(EIF2B4):c.498+2_498+5del	EIF2B4	Deletion (splice donor variant)	Vanishing white matter disease	GLikely pathogenic
Select item 898578	NM_001034116.2(EIF2B4):c.491G>A (p.Arg164His)	EIF2B4 (R163H +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 898579	NM_001034116.2(EIF2B4):c.428G>A (p.Arg143His)	EIF2B4 (R128H +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +1 more	GUncertain significance
Select item 931875	NM_001034116.2(EIF2B4):c.414dup (p.Ser139fs)	EIF2B4 (S108fs +5 more)	Duplication (frameshift variant +2 more)	Vanishing white matter disease	GLikely pathogenic
Select item 808717	NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys)	EIF2B4	Deletion (inframe_indel +2 more)	Vanishing white matter disease +2 more	GUncertain significance
Select item 585845	NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=)	EIF2B4	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898580	NM_001034116.2(EIF2B4):c.360G>A (p.Gly120=)	EIF2B4	Single nucleotide variant (synonymous variant +2 more)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 335542	NM_001034116.2(EIF2B4):c.342G>C (p.Leu114=)	EIF2B4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895582	NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln)	EIF2B4 (R81Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 335543	NM_001034116.2(EIF2B4):c.311G>A (p.Arg104His)	EIF2B4 (R104H +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance

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