27102[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 2221251	NM_014413.4(EIF2AK1):c.*1373G>C	AIMP2, EIF2AK1	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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
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 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 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 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 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 2179374	NM_006303.4(AIMP2):c.638T>C (p.Ile213Thr)	EIF2AK1, AIMP2 (I173T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 1906796	NM_006303.4(AIMP2):c.644G>A (p.Arg215His)	AIMP2, EIF2AK1 (R146H +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 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 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 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 1416260	NM_006303.4(AIMP2):c.677A>G (p.Asn226Ser)	EIF2AK1, AIMP2 (N157S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 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 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 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 1357079	NM_006303.4(AIMP2):c.719C>T (p.Ala240Val)	AIMP2, EIF2AK1 (A171V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 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 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 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 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 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 +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 provided +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 +1 more	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 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 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 +1 more	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

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