ClinVar for Gene (Select 7965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341735	NM_006303.4(AIMP2):c.315G>A (p.Ala105=)	AIMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3279048	NM_006303.4(AIMP2):c.528G>C (p.Gln176His)	AIMP2 (Q176H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3256190	NM_006303.4(AIMP2):c.-298G>C	AIMP2, PMS2	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3256189	NM_006303.4(AIMP2):c.-307dupT	AIMP2, PMS2	Duplication (non-coding transcript variant)	not specified	GLikely benign
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 3245907	NC_000007.13:g.(?_6026370)_(6064452_?)dup	AIMP2, EIF2AK1 +1 more	Duplication	not provided	GUncertain significance
Select item 3245668	NC_000007.14:g.(?_5986749)_(6009468_?)dup	AIMP2, PMS2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3245666	NC_000007.14:g.(?_5986749)_(6009468_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3245665	NC_000007.13:g.(?_6026370)_(6057696_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3245661	NC_000007.13:g.(?_6042150)_(6113173_?)del	AIMP2, EIF2AK1 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
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 3102922	NM_006303.4(AIMP2):c.101G>C (p.Ser34Thr)	AIMP2 (S34T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
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 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 3033944	NM_006303.4(AIMP2):c.480C>T (p.Ser160=)	AIMP2	Single nucleotide variant (synonymous variant)	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 2892572	NM_006303.4(AIMP2):c.114G>T (p.Ala38=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2891822	NM_006303.4(AIMP2):c.117G>A (p.Pro39=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	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 2747947	NM_006303.4(AIMP2):c.468C>G (p.Ser156=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2657294	NM_006303.4(AIMP2):c.117G>C (p.Pro39=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2613245	NM_006303.4(AIMP2):c.419G>A (p.Arg140Lys)	AIMP2 (R71K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2499066	GRCh37/hg19 7p22.1(chr7:6022454-6057676)x1	AIMP2, PMS2	Copy number loss	not provided	GPathogenic
Select item 2462071	NM_006303.4(AIMP2):c.523A>C (p.Lys175Gln)	AIMP2 (K106Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445503	NC_000007.13:g.(?_6026370)_(6080870_?)del	EIF2AK1, PMS2 +1 more	Deletion	not provided	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 2423259	NC_000007.13:g.(?_6048618)_(6049099_?)dup	AIMP2, PMS2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2423252	NC_000007.13:g.(?_6035155)_(6049099_?)dup	AIMP2, PMS2	Duplication	Hereditary nonpolyposis colorectal neoplasms	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 2420547	NM_006303.4(AIMP2):c.155T>C (p.Leu52Pro)	AIMP2 (L12P +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 2406882	NM_006303.4(AIMP2):c.271A>G (p.Asn91Asp)	AIMP2 (N47D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2381896	NM_006303.4(AIMP2):c.375C>A (p.Asn125Lys)	AIMP2 (N125K +5 more)	Single nucleotide variant (missense variant)	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 2282321	NM_006303.4(AIMP2):c.365T>C (p.Ile122Thr)	AIMP2 (I82T +5 more)	Single nucleotide variant (missense variant)	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 2230151	NM_006303.4(AIMP2):c.101G>A (p.Ser34Asn)	AIMP2 (S34N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229514	NM_006303.4(AIMP2):c.256G>A (p.Asp86Asn)	AIMP2 (D46N +4 more)	Single nucleotide variant (missense variant +1 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 2200998	NM_006303.4(AIMP2):c.442G>A (p.Val148Ile)	AIMP2 (V79I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2191051	NM_006303.4(AIMP2):c.172C>T (p.Arg58Cys)	AIMP2 (R58C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2189420	NM_006303.4(AIMP2):c.401C>T (p.Ser134Phe)	AIMP2 (S56F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185580	NM_006303.4(AIMP2):c.46C>T (p.Leu16Phe)	AIMP2 (L16F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2184381	NM_006303.4(AIMP2):c.98G>A (p.Arg33Lys)	AIMP2 (R33K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2183835	NM_006303.4(AIMP2):c.383C>T (p.Pro128Leu)	AIMP2 (P128L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2181532	NM_006303.4(AIMP2):c.83C>G (p.Pro28Arg)	AIMP2 (P28R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2181107	NM_006303.4(AIMP2):c.50G>A (p.Arg17His)	AIMP2 (R17H)	Single nucleotide variant (missense variant +2 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 2131572	NM_006303.4(AIMP2):c.156G>A (p.Leu52=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2100996	NM_006303.4(AIMP2):c.459C>T (p.His153=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080225	NM_006303.4(AIMP2):c.375C>T (p.Asn125=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079640	NM_006303.4(AIMP2):c.501G>A (p.Lys167=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059281	NM_006303.4(AIMP2):c.312T>C (p.Asn104=)	AIMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053015	NM_006303.4(AIMP2):c.358A>C (p.Lys120Gln)	AIMP2 (K120Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2047946	NM_006303.4(AIMP2):c.61C>T (p.Pro21Ser)	AIMP2 (P21S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2008831	NM_006303.4(AIMP2):c.447G>A (p.Leu149=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2000762	NM_006303.4(AIMP2):c.277A>T (p.Ile93Phe)	AIMP2 (I64F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987935	NM_006303.4(AIMP2):c.43C>G (p.Pro15Ala)	AIMP2 (P15A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1958668	NM_006303.4(AIMP2):c.477G>C (p.Lys159Asn)	AIMP2 (K115N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954432	NM_006303.4(AIMP2):c.351G>A (p.Gly117=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1942942	NM_006303.4(AIMP2):c.420G>A (p.Arg140=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937247	NM_006303.4(AIMP2):c.284C>T (p.Ala95Val)	AIMP2 (A51V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930673	NM_006303.4(AIMP2):c.533G>A (p.Arg178His)	AIMP2 (R134H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929826	NM_006303.4(AIMP2):c.475A>G (p.Lys159Glu)	AIMP2 (K115E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925072	NM_006303.4(AIMP2):c.286G>T (p.Asp96Tyr)	AIMP2 (D18Y +4 more)	Single nucleotide variant (missense 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 1897356	NM_006303.4(AIMP2):c.574+5G>A	AIMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1809360	GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808353	GRCh37/hg19 7p22.1(chr7:5832633-6065236)x1	AIMP2, CCZ1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1723275	NC_000007.13:g.(?_6061877)_(6098861_?)dup	AIMP2, EIF2AK1	Duplication	not specified	GUncertain significance
Select item 1723215	Single allele	AIMP2, CCZ1 +4 more	Deletion	Lynch syndrome 1	GPathogenic

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