LETM1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 737376	NM_012318.3(LETM1):c.1917C>T (p.Asn639=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710426	NM_012318.3(LETM1):c.1911G>A (p.Pro637=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1439888	NM_012318.3(LETM1):c.1910C>T (p.Pro637Leu)	LETM1 (P637L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654579	NM_012318.3(LETM1):c.1864T>C (p.Leu622=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499876	NM_012318.3(LETM1):c.1858G>A (p.Asp620Asn)	LETM1 (D620N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417469	NM_012318.3(LETM1):c.1849G>A (p.Gly617Arg)	LETM1 (G617R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386217	NM_012318.3(LETM1):c.1834del (p.Val612fs)	LETM1 (V612fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1940782	NM_012318.3(LETM1):c.1833G>A (p.Arg611=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905263	NM_012318.3(LETM1):c.1832G>C (p.Arg611Thr)	LETM1 (R611T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923171	NM_012318.3(LETM1):c.1822T>C (p.Leu608=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789992	NM_012318.3(LETM1):c.1817A>G (p.Lys606Arg)	LETM1 (K606R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2394466	NM_012318.3(LETM1):c.1795G>T (p.Val599Leu)	LETM1 (V599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1166789	NM_012318.3(LETM1):c.1791G>A (p.Lys597=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2080270	NM_012318.3(LETM1):c.1772C>A (p.Ser591Ter)	LETM1 (S591*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3118394	NM_012318.3(LETM1):c.1764G>C (p.Lys588Asn)	LETM1 (K588N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780442	NM_012318.3(LETM1):c.1764G>A (p.Lys588=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771139	NM_012318.3(LETM1):c.1760A>G (p.Lys587Arg)	LETM1 (K587R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237543	NM_012318.3(LETM1):c.1759A>C (p.Lys587Gln)	LETM1 (K587Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734534	NM_012318.3(LETM1):c.1744-4T>C	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961912	NM_012318.3(LETM1):c.1744-18C>G	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691342	NM_012318.3(LETM1):c.1743+4G>A	LETM1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1511738	NM_012318.3(LETM1):c.1741G>A (p.Glu581Lys)	LETM1 (E581K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517953	NM_012318.3(LETM1):c.1740C>T (p.Ser580=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659093	NM_012318.3(LETM1):c.1728G>T (p.Val576=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354660	NM_012318.3(LETM1):c.1723G>T (p.Asp575Tyr)	LETM1 (D575Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360033	NM_012318.3(LETM1):c.1667A>G (p.Gln556Arg)	LETM1 (Q556R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740836	NM_012318.3(LETM1):c.1647C>T (p.Ser549=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581563	NM_012318.3(LETM1):c.1635C>T (p.Ile545=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898479	NM_012318.3(LETM1):c.1623G>A (p.Thr541=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764716	NM_012318.3(LETM1):c.1608+8G>C	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662487	NM_012318.3(LETM1):c.1605G>C (p.Leu535Phe)	LETM1 (L535F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167291	NM_012318.3(LETM1):c.1590G>A (p.Pro530=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308694	NM_012318.3(LETM1):c.1551C>G (p.Asp517Glu)	LETM1 (D517E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329913	NM_012318.3(LETM1):c.1538C>A (p.Pro513Gln)	LETM1 (P513Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290489	NM_012318.3(LETM1):c.1529A>C (p.Glu510Ala)	LETM1 (E510A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2161783	NM_012318.3(LETM1):c.1528G>A (p.Glu510Lys)	LETM1 (E510K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 799087	NM_012318.3(LETM1):c.1527C>T (p.Thr509=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763365	NM_012318.3(LETM1):c.1521G>A (p.Pro507=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085901	NM_012318.3(LETM1):c.1520C>T (p.Pro507Leu)	LETM1 (P507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142245	NM_012318.3(LETM1):c.1518G>T (p.Arg506Ser)	LETM1 (R506S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1086339	NM_012318.3(LETM1):c.1500G>C (p.Val500=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168086	NM_012318.3(LETM1):c.1496G>A (p.Arg499His)	LETM1 (R499H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346695	NM_012318.3(LETM1):c.1495C>T (p.Arg499Cys)	LETM1 (R499C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424952	NM_012318.3(LETM1):c.1492G>A (p.Glu498Lys)	LETM1 (E498K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1975475	NM_012318.3(LETM1):c.1477-15C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902780	NM_012318.3(LETM1):c.1476+20C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712056	NM_012318.3(LETM1):c.1476+7G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435047	NM_012318.3(LETM1):c.1476+6C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2166367	NM_012318.3(LETM1):c.1476G>A (p.Ala492=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 730674	NM_012318.3(LETM1):c.1467G>A (p.Ser489=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1506938	NM_012318.3(LETM1):c.1466C>G (p.Ser489Trp)	LETM1 (S489W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445119	NM_012318.3(LETM1):c.1463G>A (p.Arg488His)	LETM1 (R488H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404320	NM_012318.3(LETM1):c.1462C>T (p.Arg488Cys)	LETM1 (R488C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044584	NM_012318.3(LETM1):c.1447A>G (p.Lys483Glu)	LETM1 (K483E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207071	NM_012318.3(LETM1):c.1442G>T (p.Arg481Leu)	LETM1 (R481L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1926071	NM_012318.3(LETM1):c.1430A>G (p.Gln477Arg)	LETM1 (Q477R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979171	NM_012318.3(LETM1):c.1422G>A (p.Ala474=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163346	NM_012318.3(LETM1):c.1421C>T (p.Ala474Val)	LETM1 (A474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723266	NM_012318.3(LETM1):c.1407G>A (p.Thr469=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538481	NM_012318.3(LETM1):c.1406C>T (p.Thr469Met)	LETM1 (T469M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540917	NM_012318.3(LETM1):c.1401G>C (p.Glu467Asp)	LETM1 (E467D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1564089	NM_012318.3(LETM1):c.1359C>T (p.Ala453=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499613	NM_012318.3(LETM1):c.1350G>A (p.Val450=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132051	NM_012318.3(LETM1):c.1346A>G (p.Gln449Arg)	LETM1 (Q449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712746	NM_012318.3(LETM1):c.1333-1G>C	LETM1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1908957	NM_012318.3(LETM1):c.1333-9C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934955	NM_012318.3(LETM1):c.1333-12C>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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