ClinVar for MedGen (Select 815922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363190	NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)	FBXL4 (E173*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 13	GPathogenic
Select item 3254595	NM_001278716.2(FBXL4):c.1241T>C (p.Leu414Pro)	FBXL4 (L414P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 3254581	NM_001278716.2(FBXL4):c.1544G>A (p.Cys515Tyr)	FBXL4 (C515Y)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 3064943	NM_001278716.2(FBXL4):c.1104-2646A>G	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13	GLikely benign
Select item 3061749	NM_001278716.2(FBXL4):c.197G>A (p.Gly66Glu)	FBXL4 (G66E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 2664233	NM_001278716.2(FBXL4):c.1387A>G (p.Met463Val)	FBXL4 (M463V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	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 2441393	NM_001278716.2(FBXL4):c.1390-2172C>T	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2441392	NM_001278716.2(FBXL4):c.1317+137T>C	FBXL4	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2441391	NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)	FBXL4 (S385R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2441390	NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)	FBXL4 (C489G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 1696842	NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)	FBXL4 (C450W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 1696828	NM_001278716.2(FBXL4):c.736dup (p.Ile246fs)	FBXL4 (I246fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 13	GPathogenic
Select item 1445335	NM_001278716.2(FBXL4):c.929T>C (p.Leu310Pro)	FBXL4 (L310P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1343164	NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer)	FBXL4	Deletion (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
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 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 1186102	NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)	FBXL4 (Y162*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GPathogenic/Likely pathogenic
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 1120213	NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys)	FBXL4 (Y100C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 1032551	NM_001278716.2(FBXL4):c.539C>T (p.Pro180Leu)	FBXL4 (P180L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032550	NM_001278716.2(FBXL4):c.1389+11G>A	FBXL4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976769	NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)	FBXL4 (A418P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 917533	NM_001278716.2(FBXL4):c.1538G>T (p.Gly513Val)	FBXL4 (G513V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 915991	GRCh37/hg19 6q16.1(chr6:99347158-99374801)	FBXL4	Copy number loss	Mitochondrial DNA depletion syndrome 13	GPathogenic
Select item 804396	NM_001278716.2(FBXL4):c.1323del (p.Ala442fs)	FBXL4 (A442fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 802253	NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter)	FBXL4 (E208*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 13	GPathogenic
Select item 802252	NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)	FBXL4 (C558Y)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 694444	NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs)	FBXL4 (N210fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 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 437826	NM_001278716.2(FBXL4):c.*5A>G	FBXL4	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GBenign
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 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 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 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 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 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 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 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 437811	NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +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 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 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 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 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 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 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 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 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)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 437775	NM_001278716.2(FBXL4):c.1580G>T (p.Arg527Ile)	FBXL4 (R527I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437774	NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437773	NM_001278716.2(FBXL4):c.1567G>A (p.Gly523Arg)	FBXL4 (G523R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437772	NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437771	NM_001278716.2(FBXL4):c.1564A>G (p.Thr522Ala)	FBXL4 (T522A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437770	NM_001278716.2(FBXL4):c.1553T>G (p.Leu518Arg)	FBXL4 (L518R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437769	NM_001278716.2(FBXL4):c.1549A>C (p.Thr517Pro)	FBXL4 (T517P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437768	NM_001278716.2(FBXL4):c.1546C>T (p.Pro516Ser)	FBXL4 (P516S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 437767	NM_001278716.2(FBXL4):c.1533C>A (p.Asp511Glu)	FBXL4 (D511E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437766	NM_001278716.2(FBXL4):c.1528C>G (p.Leu510Val)	FBXL4 (L510V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437765	NM_001278716.2(FBXL4):c.1526A>C (p.Glu509Ala)	FBXL4 (E509A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437764	NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437763	NM_001278716.2(FBXL4):c.1508G>T (p.Gly503Val)	FBXL4 (G503V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437762	NM_001278716.2(FBXL4):c.1483A>C (p.Asn495His)	FBXL4 (N495H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 437761	NM_001278716.2(FBXL4):c.1468A>G (p.Lys490Glu)	FBXL4 (K490E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437760	NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437759	NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437758	NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)	FBXL4 (R482Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity

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