Related gene-specific medical variations for Gene (Select 7965) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3250888	NM_006303.4(AIMP2):c.120C>T (p.Gly40=)	AIMP2, LOC129997917	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 3037163	NM_006303.4(AIMP2):c.126C>G (p.Gly42=)	AIMP2, LOC129997917	Single nucleotide variant (synonymous variant +2 more)	AIMP2-related disorder	GLikely benign
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 2891067	NM_006303.4(AIMP2):c.135+11G>T	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2664220	NM_006303.4(AIMP2):c.135G>A (p.Gln45=)	AIMP2, LOC129997917	Single nucleotide variant (synonymous variant +2 more)	Leukodystrophy, hypomyelinating, 17	GUncertain significance
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 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 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 2416898	NM_006303.4(AIMP2):c.135+13G>C	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2278801	NM_006303.4(AIMP2):c.129C>A (p.His43Gln)	AIMP2, LOC129997917 (H43Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 2184670	NM_006303.4(AIMP2):c.127C>T (p.His43Tyr)	AIMP2, LOC129997917 (H43Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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
Select item 2179917	NM_006303.4(AIMP2):c.135+14G>C	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179535	NM_006303.4(AIMP2):c.135+14dup	AIMP2, LOC129997917	Duplication (intron variant)	not provided	GBenign
Select item 2179374	NM_006303.4(AIMP2):c.638T>C (p.Ile213Thr)	AIMP2, EIF2AK1 (I173T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2168504	NM_006303.4(AIMP2):c.624A>G (p.Glu208=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2160583	NM_006303.4(AIMP2):c.861G>C (p.Gln287His)	AIMP2, EIF2AK1 (Q209H +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2115046	NM_006303.4(AIMP2):c.911G>A (p.Arg304Lys)	AIMP2, EIF2AK1 (R226K +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2104187	NM_006303.4(AIMP2):c.691A>G (p.Thr231Ala)	AIMP2, EIF2AK1 (T153A +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2007981	NM_006303.4(AIMP2):c.864C>G (p.Ile288Met)	AIMP2, EIF2AK1 (I219M +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1948769	NM_006303.4(AIMP2):c.673C>G (p.His225Asp)	AIMP2, EIF2AK1 (H147D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1946194	NM_006303.4(AIMP2):c.654C>G (p.Phe218Leu)	AIMP2, EIF2AK1 (F149L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1922259	NM_006303.4(AIMP2):c.627C>T (p.Gly209=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1921642	NM_006303.4(AIMP2):c.683T>C (p.Val228Ala)	AIMP2, EIF2AK1 (V150A +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1918437	NM_006303.4(AIMP2):c.803G>C (p.Trp268Ser)	AIMP2, EIF2AK1 (W224S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1910000	NM_006303.4(AIMP2):c.687C>T (p.Asn229=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1906796	NM_006303.4(AIMP2):c.644G>A (p.Arg215His)	AIMP2, EIF2AK1 (R146H +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1904423	NM_006303.4(AIMP2):c.643C>T (p.Arg215Cys)	AIMP2, EIF2AK1 (R137C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1903979	NM_006303.4(AIMP2):c.803G>A (p.Trp268Ter)	AIMP2, EIF2AK1 (W224* +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1651378	NM_006303.4(AIMP2):c.807C>T (p.Leu269=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1604818	NM_006303.4(AIMP2):c.852A>C (p.Val284=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1574144	NM_006303.4(AIMP2):c.822C>T (p.Leu274=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1571399	NM_006303.4(AIMP2):c.135+19_135+20dup	AIMP2, LOC129997917	Duplication (intron variant)	not provided	GLikely benign
Select item 1555063	NM_006303.4(AIMP2):c.135+12G>A	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1489893	NM_006303.4(AIMP2):c.680C>T (p.Ala227Val)	AIMP2, EIF2AK1 (A183V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1448488	NM_006303.4(AIMP2):c.119G>C (p.Gly40Ala)	AIMP2, LOC129997917 (G40A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1416260	NM_006303.4(AIMP2):c.677A>G (p.Asn226Ser)	AIMP2, EIF2AK1 (N157S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1404312	NM_006303.4(AIMP2):c.760G>A (p.Ala254Thr)	AIMP2, EIF2AK1 (A210T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1403990	NM_006303.4(AIMP2):c.960_*10del (p.Lys320fs)	AIMP2, EIF2AK1 (K291fs +5 more)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1395178	NM_006303.4(AIMP2):c.697A>G (p.Ile233Val)	AIMP2, EIF2AK1 (I155V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1364385	NM_006303.4(AIMP2):c.776T>C (p.Met259Thr)	AIMP2, EIF2AK1 (M219T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1357079	NM_006303.4(AIMP2):c.719C>T (p.Ala240Val)	AIMP2, EIF2AK1 (A171V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1166590	NM_006303.4(AIMP2):c.135+20dup	AIMP2, LOC129997917	Duplication (intron variant)	not provided	GBenign
Select item 1166059	NM_006303.4(AIMP2):c.924C>T (p.Asn308=)	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 872212	NM_006303.4(AIMP2):c.658_659del (p.Leu220fs)	AIMP2, EIF2AK1 (L191fs +5 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 225106	NM_006303.4(AIMP2):c.575-2A>G	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 17 +1 more	GPathogenic

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Items: 56