LETM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +124 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 153530	GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 155580	GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3	FAM53A, FGFR3 +39 more	Copy number gain	See cases	GLikely benign
Select item 155481	GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1	FGFR3, LETM1 +23 more	Copy number loss	See cases	GLikely pathogenic
Select item 148893	GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3	FGFR3, HAUS3 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154710	GRCh38/hg38 4p16.3(chr4:1813036-1849079)x1	LETM1	Copy number loss	See cases	GUncertain significance
Select item 1300219	NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr)	LETM1	Single nucleotide variant (stop lost)	Global developmental delay	GUncertain significance
Select item 1921717	NM_012318.3(LETM1):c.2203G>A (p.Ala735Thr)	LETM1 (A735T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018645	NM_012318.3(LETM1):c.2202C>A (p.Val734=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577921	NM_012318.3(LETM1):c.2163G>A (p.Glu721=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759664	NM_012318.3(LETM1):c.2139A>G (p.Thr713=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733287	NM_012318.3(LETM1):c.2127G>A (p.Glu709=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015523	NM_012318.3(LETM1):c.2117A>G (p.Gln706Arg)	LETM1 (Q706R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2455589	NM_012318.3(LETM1):c.2114G>A (p.Ser705Asn)	LETM1 (S705N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300218	NM_012318.3(LETM1):c.2094del (p.Asp699fs)	LETM1 (D699fs)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction +1 more	GPathogenic
Select item 714238	NM_012318.3(LETM1):c.2090A>G (p.Lys697Arg)	LETM1 (K697R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1502826	NM_012318.3(LETM1):c.2071-3T>C	LETM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1300225	NM_012318.3(LETM1):c.2071-9C>G	LETM1	Single nucleotide variant (intron variant)	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction +1 more	GPathogenic
Select item 2014207	NM_012318.3(LETM1):c.2071-15T>C	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730673	NM_012318.3(LETM1):c.2070+9C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2198229	NM_012318.3(LETM1):c.2065G>A (p.Val689Ile)	LETM1 (V689I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473121	NM_012318.3(LETM1):c.2029G>A (p.Glu677Lys)	LETM1 (E677K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712521	NM_012318.3(LETM1):c.1995A>C (p.Glu665Asp)	LETM1 (E665D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1657725	NM_012318.3(LETM1):c.1992C>T (p.Pro664=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916623	NM_012318.3(LETM1):c.1987A>G (p.Ile663Val)	LETM1 (I663V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926349	NM_012318.3(LETM1):c.1974G>A (p.Lys658=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118396	NM_012318.3(LETM1):c.1966G>A (p.Ala656Thr)	LETM1 (A656T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2882711	NM_012318.3(LETM1):c.1962C>A (p.Ile654=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663127	NM_012318.3(LETM1):c.1956G>A (p.Glu652=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118395	NM_012318.3(LETM1):c.1951G>C (p.Ala651Pro)	LETM1 (A651P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176321	NM_012318.3(LETM1):c.1950C>T (p.Val650=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742331	NM_012318.3(LETM1):c.1938C>T (p.Asn646=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554876	NM_012318.3(LETM1):c.1937A>C (p.Asn646Thr)	LETM1 (N646T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1897183	NM_012318.3(LETM1):c.1932-19G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900773	NM_012318.3(LETM1):c.1931+20C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019964	NM_012318.3(LETM1):c.1931+19G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186507	NM_012318.3(LETM1):c.1931+9G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742826	NM_012318.3(LETM1):c.1931+7G>C	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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