26235[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	COQ3, ASCC3 +53 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 1181505	NM_001278716.2(FBXL4):c.*90G>C	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 437825	NM_001278716.2(FBXL4):c.*18A>G	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437824	NM_001278716.2(FBXL4):c.*11G>A	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437827	NM_001278716.2(FBXL4):c.*9A>G	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437828	NM_001278716.2(FBXL4):c.3_5delinsCAG	FBXL4	Indel (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437826	NM_001278716.2(FBXL4):c.*5A>G	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	FBXL4-related disorder +2 more	GBenign
Select item 437823	NM_001278716.2(FBXL4):c.*4A>G	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 381422	NM_001278716.2(FBXL4):c.*3T>C	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GBenign
Select item 437822	NM_001278716.2(FBXL4):c.1859C>G (p.Thr620Ser)	FBXL4 (T620S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2413614	NM_001278716.2(FBXL4):c.1852_1853del (p.Ser618fs)	FBXL4 (S618fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2119332	NM_001278716.2(FBXL4):c.1846A>G (p.Lys616Glu)	FBXL4 (K616E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437487	NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu)	FBXL4 (V613E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 2486760	NM_001278716.2(FBXL4):c.1837G>C (p.Val613Leu)	FBXL4 (V613L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 437821	NM_001278716.2(FBXL4):c.1836del (p.Val613fs)	FBXL4 (V613fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 1513827	NM_001278716.2(FBXL4):c.1831C>G (p.Pro611Ala)	FBXL4 (P611A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437820	NM_001278716.2(FBXL4):c.1826G>A (p.Ser609Asn)	FBXL4 (S609N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437819	NM_001278716.2(FBXL4):c.1796A>G (p.Asp599Gly)	FBXL4 (D599G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437486	NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	FBXL4 (Q597P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 437818	NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437817	NM_001278716.2(FBXL4):c.1788G>T (p.Ser596=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 1341563	NM_001278716.2(FBXL4):c.1787del (p.Ser596fs)	FBXL4 (S596fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 437816	NM_001278716.2(FBXL4):c.1787C>T (p.Ser596Leu)	FBXL4 (S596L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 1301609	NM_001278716.2(FBXL4):c.1784G>C (p.Cys595Ser)	FBXL4 (C595S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437815	NM_001278716.2(FBXL4):c.1779C>T (p.Ser593=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437814	NM_001278716.2(FBXL4):c.1778C>G (p.Ser593Cys)	FBXL4 (S593C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437813	NM_001278716.2(FBXL4):c.1773T>C (p.Asp591=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437812	NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)	FBXL4 (D591A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GConflicting classifications of pathogenicity
Select item 437485	NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly)	FBXL4 (D591G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 437811	NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2132761	NM_001278716.2(FBXL4):c.1763C>G (p.Ser588Cys)	FBXL4 (S588C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437810	NM_001278716.2(FBXL4):c.1760T>C (p.Leu587Pro)	FBXL4 (L587P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2094670	NM_001278716.2(FBXL4):c.1757A>G (p.Asp586Gly)	FBXL4 (D586G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437809	NM_001278716.2(FBXL4):c.1751G>T (p.Cys584Phe)	FBXL4 (C584F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 1184592	NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)	FBXL4 (C584fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 437484	NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)	FBXL4 (C584R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 437808	NM_001278716.2(FBXL4):c.1748C>G (p.Ser583Cys)	FBXL4 (S583C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437807	NM_001278716.2(FBXL4):c.1745A>G (p.Glu582Gly)	FBXL4 (E582G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437806	NM_001278716.2(FBXL4):c.1745A>C (p.Glu582Ala)	FBXL4 (E582A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 986069	NM_001278716.2(FBXL4):c.1740_1742del (p.Leu581del)	FBXL4 (L581del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 437805	NM_001278716.2(FBXL4):c.1739T>C (p.Leu580Pro)	FBXL4 (L580P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437804	NM_001278716.2(FBXL4):c.1739T>G (p.Leu580Arg)	FBXL4 (L580R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437803	NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437802	NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser)	FBXL4 (A575S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437801	NM_001278716.2(FBXL4):c.1723G>A (p.Ala575Thr)	FBXL4 (A575T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437800	NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437799	NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu)	FBXL4 (P574L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +2 more	GUncertain significance
Select item 437798	NM_001278716.2(FBXL4):c.1721C>A (p.Pro574Gln)	FBXL4 (P574Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2696003	NM_001278716.2(FBXL4):c.1716A>G (p.Val572=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 437797	NM_001278716.2(FBXL4):c.1713G>A (p.Met571Ile)	FBXL4 (M571I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 2500913	NM_001278716.2(FBXL4):c.1709_1710dup (p.Met571fs)	FBXL4 (M571fs)	Duplication (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2023214	NM_001278716.2(FBXL4):c.1704A>G (p.Gly568=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 66092	NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	FBXL4 (G568A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GPathogenic/Likely pathogenic
Select item 2698598	NM_001278716.2(FBXL4):c.1703-5A>C	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 437796	NM_001278716.2(FBXL4):c.1703-9C>T	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437795	NM_001278716.2(FBXL4):c.1703-10C>A	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 419943	NM_001278716.2(FBXL4):c.1703-36TGTTT[6]	FBXL4	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 1902691	NM_001278716.2(FBXL4):c.1703-36TGTTT[4]	FBXL4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1895612	NM_001278716.2(FBXL4):c.1703-36TGTTT[3]	FBXL4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 437794	NM_001278716.2(FBXL4):c.1703-14T>C	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 1268138	NM_001278716.2(FBXL4):c.1703-37G>A	FBXL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680585	NM_001278716.2(FBXL4):c.1702+291_1702+292insA	FBXL4	Insertion (intron variant)	not provided	GBenign
Select item 437793	NM_001278716.2(FBXL4):c.1702+18A>G	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 2840547	NM_001278716.2(FBXL4):c.1702+14A>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 437792	NM_001278716.2(FBXL4):c.1702+11A>T	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437791	NM_001278716.2(FBXL4):c.1702+6G>A	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437790	NM_001278716.2(FBXL4):c.1700T>C (p.Leu567Ser)	FBXL4 (L567S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437789	NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437483	NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	FBXL4 (I566M)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GPathogenic/Likely pathogenic
Select item 1524230	NM_001278716.2(FBXL4):c.1696A>G (p.Ile566Val)	FBXL4 (I566V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 66094	NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)	FBXL4 (D565G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 437788	NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437494	NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)	FBXL4 (Q563*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13	GPathogenic
Select item 437787	NM_001278716.2(FBXL4):c.1685A>G (p.Gln562Arg)	FBXL4 (Q562R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437786	NM_001278716.2(FBXL4):c.1681T>A (p.Leu561Ile)	FBXL4 (L561I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 802252	NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)	FBXL4 (C558Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437785	NM_001278716.2(FBXL4):c.1672T>G (p.Cys558Gly)	FBXL4 (C558G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437784	NM_001278716.2(FBXL4):c.1670A>G (p.Asn557Ser)	FBXL4 (N557S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437783	NM_001278716.2(FBXL4):c.1662G>A (p.Leu554=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437782	NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 1942566	NM_001278716.2(FBXL4):c.1655A>G (p.Asp552Gly)	FBXL4 (D552G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437482	NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	FBXL4 (I551N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GConflicting classifications of pathogenicity
Select item 437499	NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)	FBXL4 (D550fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 265143	NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)	FBXL4	Microsatellite (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 437781	NM_001278716.2(FBXL4):c.1631G>A (p.Arg544Lys)	FBXL4 (R544K)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2111469	NM_001278716.2(FBXL4):c.1628A>G (p.Asn543Ser)	FBXL4 (N543S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437780	NM_001278716.2(FBXL4):c.1628A>C (p.Asn543Thr)	FBXL4 (N543T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437779	NM_001278716.2(FBXL4):c.1626T>G (p.Ala542=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437481	NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)	FBXL4 (T541I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437778	NM_001278716.2(FBXL4):c.1617T>G (p.Phe539Leu)	FBXL4 (F539L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 1972982	NM_001278716.2(FBXL4):c.1615T>C (p.Phe539Leu)	FBXL4 (F539L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 545084	NM_001278716.2(FBXL4):c.1607A>C (p.Gln536Pro)	FBXL4 (Q536P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 437777	NM_001278716.2(FBXL4):c.1594C>G (p.Leu532Val)	FBXL4 (L532V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437776	NM_001278716.2(FBXL4):c.1592A>G (p.Gln531Arg)	FBXL4 (Q531R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 725542	NM_001278716.2(FBXL4):c.1587A>G (p.Ala529=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 437480	NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu)	FBXL4 (A529E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic

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