ClinVar for Gene (Select 27102) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 263

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349796	NM_014413.4(EIF2AK1):c.1222G>C (p.Glu408Gln)	EIF2AK1 (E407Q +1 more)	Single nucleotide variant (missense variant)	EIF2AK1-related disorder	GUncertain significance
Select item 3338937	NM_014413.4(EIF2AK1):c.1740T>G (p.Ser580Arg)	EIF2AK1 (S579R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337073	NM_014413.4(EIF2AK1):c.557A>G (p.Asn186Ser)	EIF2AK1 (N186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279041	NM_006303.4(AIMP2):c.640G>C (p.Ala214Pro)	AIMP2, EIF2AK1 (A136P +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274939	NM_014413.4(EIF2AK1):c.607G>A (p.Ala203Thr)	EIF2AK1 (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274938	NM_014413.4(EIF2AK1):c.900G>C (p.Gln300His)	EIF2AK1 (Q299H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274937	NM_014413.4(EIF2AK1):c.508C>G (p.Leu170Val)	EIF2AK1 (L170V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274936	NM_014413.4(EIF2AK1):c.722A>T (p.Gln241Leu)	EIF2AK1 (Q241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251719	NM_014413.4(EIF2AK1):c.583A>T (p.Ile195Leu)	EIF2AK1 (I195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245907	NC_000007.13:g.(?_6026370)_(6064452_?)dup	AIMP2, EIF2AK1 +1 more	Duplication	not provided	GUncertain significance
Select item 3245906	NC_000007.13:g.(?_6084173)_(6085802_?)del	EIF2AK1	Deletion	not provided	GUncertain significance
Select item 3245661	NC_000007.13:g.(?_6042150)_(6113173_?)del	AIMP2, EIF2AK1 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
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 3233796	NM_014413.4(EIF2AK1):c.545A>G (p.Tyr182Cys)	EIF2AK1 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102978	NM_006303.4(AIMP2):c.770G>A (p.Arg257His)	AIMP2, EIF2AK1 (R179H +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102970	NM_006303.4(AIMP2):c.698T>C (p.Ile233Thr)	AIMP2, EIF2AK1 (I155T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102955	NM_006303.4(AIMP2):c.622G>A (p.Glu208Lys)	AIMP2, EIF2AK1 (E168K +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 3087858	NM_014413.4(EIF2AK1):c.74C>G (p.Pro25Arg)	EIF2AK1, LOC129997920 (P25R)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 3068047	NM_014413.4(EIF2AK1):c.411+1G>A	EIF2AK1	Single nucleotide variant (splice donor variant)	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	GUncertain significance
Select item 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3062023	NM_006303.4(AIMP2):c.656_659del (p.Ser219fs)	AIMP2, EIF2AK1 (S141fs +5 more)	Microsatellite (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 17	GLikely pathogenic
Select item 3062019	Single allele	AIMP2, EIF2AK1 +1 more	Deletion	not provided	GPathogenic
Select item 3029218	NM_006303.4(AIMP2):c.585G>A (p.Thr195=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	AIMP2-related disorder	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 2906851	NM_014413.4(EIF2AK1):c.87T>G (p.Phe29Leu)	EIF2AK1, LOC129997920 (F29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902519	NM_014413.4(EIF2AK1):c.407G>A (p.Arg136His)	EIF2AK1 (R136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900417	NM_014413.4(EIF2AK1):c.370A>G (p.Ile124Val)	EIF2AK1 (I124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898521	NM_014413.4(EIF2AK1):c.333C>T (p.Asp111=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898175	NM_014413.4(EIF2AK1):c.1447+10T>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892676	NM_014413.4(EIF2AK1):c.1869C>T (p.Asp623=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891033	NM_014413.4(EIF2AK1):c.1440C>T (p.Asn480=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886409	NM_014413.4(EIF2AK1):c.1488C>T (p.Tyr496=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885150	NM_014413.4(EIF2AK1):c.1448-5G>T	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872986	NM_014413.4(EIF2AK1):c.1232-14T>G	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871200	NM_014413.4(EIF2AK1):c.450-13A>G	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870958	NM_014413.4(EIF2AK1):c.334G>A (p.Glu112Lys)	EIF2AK1 (E112K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857708	NM_014413.4(EIF2AK1):c.882A>G (p.Glu294=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2830673	NM_014413.4(EIF2AK1):c.1764+15T>C	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826800	NM_014413.4(EIF2AK1):c.411+8C>A	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820379	NM_014413.4(EIF2AK1):c.449G>A (p.Arg150Lys)	EIF2AK1 (R150K)	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 2783394	NM_014413.4(EIF2AK1):c.610A>G (p.Thr204Ala)	EIF2AK1 (T204A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780877	NM_014413.4(EIF2AK1):c.1448-17G>A	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2777079	NM_014413.4(EIF2AK1):c.412-19A>G	EIF2AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767354	NM_014413.4(EIF2AK1):c.277C>T (p.Leu93=)	EIF2AK1	Single nucleotide variant (synonymous 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 2745862	NM_014413.4(EIF2AK1):c.29A>G (p.Lys10Arg)	EIF2AK1, LOC129997920 (K10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657295	NM_001271700.2(ANKRD61):c.684C>T (p.Asn228=)	ANKRD61, EIF2AK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612689	NM_006303.4(AIMP2):c.860A>C (p.Gln287Pro)	AIMP2, EIF2AK1 (Q287P +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 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 2581383	NM_014413.4(EIF2AK1):c.631G>C (p.Val211Leu)	EIF2AK1 (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554327	NM_014413.4(EIF2AK1):c.333C>G (p.Asp111Glu)	EIF2AK1 (D111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547014	NM_014413.4(EIF2AK1):c.511G>T (p.Ala171Ser)	EIF2AK1 (A171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2523205	NM_014413.4(EIF2AK1):c.216G>C (p.Leu72Phe)	EIF2AK1 (L72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519863	NM_006303.4(AIMP2):c.742A>T (p.Ser248Cys)	AIMP2, EIF2AK1 (S170C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2445503	NC_000007.13:g.(?_6026370)_(6080870_?)del	EIF2AK1, PMS2 +1 more	Deletion	not provided	GUncertain significance
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 2441861	NM_006303.4(AIMP2):c.872G>A (p.Cys291Tyr)	AIMP2, EIF2AK1 (C213Y +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 17	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 2423250	NC_000007.13:g.(?_6036937)_(6098714_?)dup	AIMP2, EIF2AK1 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2417375	NM_014413.4(EIF2AK1):c.10G>A (p.Gly4Ser)	EIF2AK1, LOC129997920 (G4S)	Single nucleotide variant (missense variant)	not provided	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 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 2398218	NM_014413.4(EIF2AK1):c.599T>C (p.Ile200Thr)	EIF2AK1 (I200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396472	NM_014413.4(EIF2AK1):c.386G>A (p.Arg129Lys)	EIF2AK1 (R129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392457	NM_006303.4(AIMP2):c.865G>A (p.Gly289Arg)	AIMP2, EIF2AK1 (G289R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 2353582	NM_006303.4(AIMP2):c.578C>T (p.Pro193Leu)	AIMP2, EIF2AK1 (P115L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313539	NM_014413.4(EIF2AK1):c.175T>G (p.Phe59Val)	EIF2AK1 (F59V)	Single nucleotide variant (missense variant)	not specified	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 2310342	NM_014413.4(EIF2AK1):c.290C>T (p.Thr97Met)	EIF2AK1 (T97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2221251	NM_006303.4(AIMP2):c.575-3C>G	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207343	NM_014413.4(EIF2AK1):c.32G>A (p.Arg11His)	EIF2AK1, LOC129997920 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203169	NM_006303.4(AIMP2):c.864C>A (p.Ile288=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2196961	NM_014413.4(EIF2AK1):c.579T>C (p.Tyr193=)	EIF2AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196045	NM_014413.4(EIF2AK1):c.291G>A (p.Thr97=)	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 provided +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 2191868	NM_014413.4(EIF2AK1):c.750G>A (p.Glu250=)	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 provided +1 more	GUncertain significance
Select item 2189352	NM_014413.4(EIF2AK1):c.235G>A (p.Val79Met)	EIF2AK1 (V79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187820	NM_014413.4(EIF2AK1):c.485G>A (p.Arg162His)	EIF2AK1 (R162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186358	NM_014413.4(EIF2AK1):c.1232-9del	EIF2AK1	Deletion (intron variant)	not provided	GBenign
Select item 2182865	NM_006303.4(AIMP2):c.834C>T (p.Asp278=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2181421	NM_006303.4(AIMP2):c.850G>A (p.Val284Ile)	AIMP2, EIF2AK1 (V255I +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3