EIF2AK1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482909	NM_014413.4(EIF2AK1):c.1885G>A (p.Val629Met)	EIF2AK1 (V628M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2892676	NM_014413.4(EIF2AK1):c.1869C>T (p.Asp623=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189581	NM_014413.4(EIF2AK1):c.1856G>T (p.Gly619Val)	EIF2AK1 (G618V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2076623	NM_014413.4(EIF2AK1):c.1825A>C (p.Lys609Gln)	EIF2AK1 (K609Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817188	NM_014413.4(EIF2AK1):c.1800A>T (p.Gln600His)	EIF2AK1 (Q599H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794152	NM_014413.4(EIF2AK1):c.1798C>G (p.Gln600Glu)	EIF2AK1 (Q599E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110315	NM_014413.4(EIF2AK1):c.1771C>T (p.Leu591Phe)	EIF2AK1 (L590F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116010	NM_014413.4(EIF2AK1):c.1764+19C>G	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830673	NM_014413.4(EIF2AK1):c.1764+15T>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084729	NM_014413.4(EIF2AK1):c.1749C>T (p.Phe583=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541577	NM_014413.4(EIF2AK1):c.1741G>A (p.Glu581Lys)	EIF2AK1 (E580K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605670	NM_014413.4(EIF2AK1):c.1737G>T (p.Gln579His)	EIF2AK1 (Q579H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2080815	NM_014413.4(EIF2AK1):c.1727A>G (p.Gln576Arg)	EIF2AK1 (Q575R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027206	NM_014413.4(EIF2AK1):c.1673A>G (p.Lys558Arg)	EIF2AK1 (K558R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2117850	NM_014413.4(EIF2AK1):c.1662A>G (p.Pro554=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2257756	NM_014413.4(EIF2AK1):c.1645C>G (p.Leu549Val)	EIF2AK1 (L548V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2414970	NM_014413.4(EIF2AK1):c.1638G>A (p.Pro546=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049178	NM_014413.4(EIF2AK1):c.1637C>T (p.Pro546Leu)	EIF2AK1 (P546L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178192	NM_014413.4(EIF2AK1):c.1622G>C (p.Arg541Thr)	EIF2AK1 (R540T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061237	NM_014413.4(EIF2AK1):c.1622G>A (p.Arg541Lys)	EIF2AK1 (R540K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087857	NM_014413.4(EIF2AK1):c.1601C>T (p.Ala534Val)	EIF2AK1 (A533V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074645	NM_014413.4(EIF2AK1):c.1578G>A (p.Pro526=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990954	NM_014413.4(EIF2AK1):c.1578G>C (p.Pro526=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087856	NM_014413.4(EIF2AK1):c.1549G>C (p.Gly517Arg)	EIF2AK1 (G516R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1971111	NM_014413.4(EIF2AK1):c.1531-14T>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3242031	NM_014413.4(EIF2AK1):c.1520A>G (p.Tyr507Cys)	EIF2AK1 (Y506C +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 2390977	NM_014413.4(EIF2AK1):c.1516G>C (p.Glu506Gln)	EIF2AK1 (E505Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441200	NM_014413.4(EIF2AK1):c.1510G>T (p.Gly504Ter)	EIF2AK1 (G503* +1 more)	Single nucleotide variant (nonsense)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 2853045	NM_014413.4(EIF2AK1):c.1501C>T (p.Gln501Ter)	EIF2AK1 (Q500* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2071971	NM_014413.4(EIF2AK1):c.1494A>C (p.Ser498=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455532	NM_014413.4(EIF2AK1):c.1489G>A (p.Ala497Thr)	EIF2AK1 (A496T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2886409	NM_014413.4(EIF2AK1):c.1488C>T (p.Tyr496=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025493	NM_014413.4(EIF2AK1):c.1464G>A (p.Thr488=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972776	NM_014413.4(EIF2AK1):c.1454dup (p.Thr486fs)	EIF2AK1 (T486fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2885150	NM_014413.4(EIF2AK1):c.1448-5G>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071972	NM_014413.4(EIF2AK1):c.1448-8A>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780877	NM_014413.4(EIF2AK1):c.1448-17G>A	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2898175	NM_014413.4(EIF2AK1):c.1447+10T>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2441945	NM_014413.4(EIF2AK1):c.1447A>T (p.Arg483Ter)	EIF2AK1 (R482* +1 more)	Single nucleotide variant (nonsense)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 2891033	NM_014413.4(EIF2AK1):c.1440C>T (p.Asn480=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069610	NM_014413.4(EIF2AK1):c.1436G>A (p.Arg479Lys)	EIF2AK1 (R479K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087855	NM_014413.4(EIF2AK1):c.1402G>A (p.Asp468Asn)	EIF2AK1 (D467N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2168607	NM_014413.4(EIF2AK1):c.1395C>T (p.Ala465=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804245	NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val)	EIF2AK1 (I447V +1 more)	Single nucleotide variant (missense variant)	EIF2AK1-related disorder	GUncertain significance
Select item 1971554	NM_014413.4(EIF2AK1):c.1333-20C>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132881	NM_014413.4(EIF2AK1):c.1332+14A>G	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919575	NM_014413.4(EIF2AK1):c.1321C>T (p.Arg441Ter)	EIF2AK1 (R441* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2076480	NM_014413.4(EIF2AK1):c.1232-9dup	EIF2AK1	Duplication (intron variant)	not provided	GBenign
Select item 2186358	NM_014413.4(EIF2AK1):c.1232-9del	EIF2AK1	Deletion (intron variant)	not provided	GBenign
Select item 2872986	NM_014413.4(EIF2AK1):c.1232-14T>G	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970932	NM_014413.4(EIF2AK1):c.1232-18A>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1985382	NM_014413.4(EIF2AK1):c.1231+10A>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971295	NM_014413.4(EIF2AK1):c.1221C>T (p.Asp407=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193607	NM_014413.4(EIF2AK1):c.1207C>T (p.Arg403Trp)	EIF2AK1 (R402W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2193193	NM_014413.4(EIF2AK1):c.1202G>A (p.Arg401Gln)	EIF2AK1 (R400Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2069996	NM_014413.4(EIF2AK1):c.1201C>T (p.Arg401Trp)	EIF2AK1 (R400W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 736718	NM_014413.4(EIF2AK1):c.1191G>A (p.Glu397=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1974459	NM_014413.4(EIF2AK1):c.1188C>T (p.Val396=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768139	NM_014413.4(EIF2AK1):c.1174T>C (p.Trp392Arg)	EIF2AK1 (W391R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1980501	NM_014413.4(EIF2AK1):c.1149G>A (p.Gln383=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679575	NM_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val)	EIF2AK1 (I381V +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 3087854	NM_014413.4(EIF2AK1):c.1124A>G (p.Gln375Arg)	EIF2AK1 (Q375R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2041895	NM_014413.4(EIF2AK1):c.1102T>G (p.Phe368Val)	EIF2AK1 (F367V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2117876	NM_014413.4(EIF2AK1):c.1094A>G (p.Asn365Ser)	EIF2AK1 (N365S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311787	NM_014413.4(EIF2AK1):c.1073C>T (p.Thr358Ile)	EIF2AK1 (T357I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2054519	NM_014413.4(EIF2AK1):c.1040G>A (p.Arg347His)	EIF2AK1 (R347H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163991	NM_014413.4(EIF2AK1):c.1033C>T (p.Leu345Phe)	EIF2AK1 (L344F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049825	NM_014413.4(EIF2AK1):c.1012A>G (p.Ile338Val)	EIF2AK1 (I338V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118213	NM_014413.4(EIF2AK1):c.1005C>T (p.Ala335=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076945	NM_014413.4(EIF2AK1):c.991G>C (p.Ala331Pro)	EIF2AK1 (A330P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035772	NM_014413.4(EIF2AK1):c.956T>A (p.Leu319His)	EIF2AK1 (L318H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2116844	NM_014413.4(EIF2AK1):c.936C>T (p.Val312=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123278	NM_014413.4(EIF2AK1):c.929A>G (p.Asn310Ser)	EIF2AK1 (N310S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2857708	NM_014413.4(EIF2AK1):c.882A>G (p.Glu294=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515162	NM_014413.4(EIF2AK1):c.872G>A (p.Arg291His)	EIF2AK1 (R290H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2080816	NM_014413.4(EIF2AK1):c.871C>T (p.Arg291Cys)	EIF2AK1 (R290C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067486	NM_014413.4(EIF2AK1):c.836T>C (p.Ile279Thr)	EIF2AK1 (I278T +1 more)	Single nucleotide variant (missense variant)	EIF2AK1-related disorder +1 more	GLikely benign
Select item 2411529	NM_014413.4(EIF2AK1):c.814G>A (p.Asp272Asn)	EIF2AK1 (D271N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1922039	NM_014413.4(EIF2AK1):c.803G>T (p.Gly268Val)	EIF2AK1 (G268V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087859	NM_014413.4(EIF2AK1):c.799T>C (p.Cys267Arg)	EIF2AK1 (C266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191868	NM_014413.4(EIF2AK1):c.750G>A (p.Glu250=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591198	NM_014413.4(EIF2AK1):c.745A>G (p.Ile249Val)	EIF2AK1 (I248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2041275	NM_014413.4(EIF2AK1):c.731-16_731-14del	EIF2AK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2718065	NM_014413.4(EIF2AK1):c.715G>C (p.Val239Leu)	EIF2AK1 (V239L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168608	NM_014413.4(EIF2AK1):c.715G>A (p.Val239Met)	EIF2AK1 (V239M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045751	NM_014413.4(EIF2AK1):c.712C>T (p.His238Tyr)	EIF2AK1 (H238Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746940	NM_014413.4(EIF2AK1):c.693C>T (p.Thr231=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052640	NM_014413.4(EIF2AK1):c.649G>T (p.Val217Leu)	EIF2AK1 (V217L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581383	NM_014413.4(EIF2AK1):c.631G>C (p.Val211Leu)	EIF2AK1 (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1921878	NM_014413.4(EIF2AK1):c.631-18C>A	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096460	NM_014413.4(EIF2AK1):c.630+12A>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783394	NM_014413.4(EIF2AK1):c.610A>G (p.Thr204Ala)	EIF2AK1 (T204A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2398218	NM_014413.4(EIF2AK1):c.599T>C (p.Ile200Thr)	EIF2AK1 (I200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2116221	NM_014413.4(EIF2AK1):c.593T>C (p.Ile198Thr)	EIF2AK1 (I198T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196961	NM_014413.4(EIF2AK1):c.579T>C (p.Tyr193=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178193	NM_014413.4(EIF2AK1):c.554G>C (p.Arg185Thr)	EIF2AK1 (R185T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066765	NM_014413.4(EIF2AK1):c.549+13G>A	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1921889	NM_014413.4(EIF2AK1):c.549+13G>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2037456	NM_014413.4(EIF2AK1):c.549+6C>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3233796	NM_014413.4(EIF2AK1):c.545A>G (p.Tyr182Cys)	EIF2AK1 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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