ClinVar for Gene (Select 26235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372871	NM_001278716.2(FBXL4):c.925C>G (p.Leu309Val)	FBXL4 (L309V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363207	NM_001278716.2(FBXL4):c.800G>A (p.Ser267Asn)	FBXL4 (S267N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3278058	NM_001278716.2(FBXL4):c.1063A>C (p.Thr355Pro)	FBXL4 (T355P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278057	NM_001278716.2(FBXL4):c.53G>T (p.Cys18Phe)	FBXL4 (C18F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3093542	NM_001278716.2(FBXL4):c.961A>T (p.Ile321Phe)	FBXL4 (I321F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093541	NM_001278716.2(FBXL4):c.269A>G (p.Asp90Gly)	FBXL4 (D90G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
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 3054814	NM_001278716.2(FBXL4):c.678T>C (p.His226=)	FBXL4	Single nucleotide variant (synonymous variant)	FBXL4-related disorder	GLikely benign
Select item 3034974	NM_001278716.2(FBXL4):c.1390-9G>A	FBXL4	Single nucleotide variant (intron variant)	FBXL4-related disorder	GLikely benign
Select item 3001403	NM_001278716.2(FBXL4):c.1224C>T (p.Leu408=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981658	NM_001278716.2(FBXL4):c.1104-15A>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909503	NM_001278716.2(FBXL4):c.1390-1G>A	FBXL4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2898282	NM_001278716.2(FBXL4):c.561A>G (p.Gln187=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875680	NM_001278716.2(FBXL4):c.1303C>A (p.Arg435=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869657	NM_001278716.2(FBXL4):c.255C>T (p.Phe85=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859193	NM_001278716.2(FBXL4):c.1502C>A (p.Ala501Asp)	FBXL4 (A501D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2840547	NM_001278716.2(FBXL4):c.1702+14A>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813992	NM_001278716.2(FBXL4):c.952C>T (p.Leu318=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805261	NM_001278716.2(FBXL4):c.1318-12C>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795869	NM_001278716.2(FBXL4):c.513-13C>T	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794401	NM_001278716.2(FBXL4):c.75A>G (p.Thr25=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792669	NM_001278716.2(FBXL4):c.1200T>C (p.Cys400=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790175	NM_001278716.2(FBXL4):c.951T>C (p.Pro317=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789081	NM_001278716.2(FBXL4):c.1318-4G>T	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759793	NM_001278716.2(FBXL4):c.1390-4C>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698598	NM_001278716.2(FBXL4):c.1703-5A>C	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2695330	NM_001278716.2(FBXL4):c.986G>A (p.Trp329Ter)	FBXL4 (W329*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
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 2545399	NM_001278716.2(FBXL4):c.1075G>A (p.Gly359Ser)	FBXL4 (G359S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2501198	NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)	FBXL4 (K479fs)	Indel (frameshift variant +1 more)	Leigh syndrome	GLikely pathogenic
Select item 2501197	NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)	FBXL4 (K479fs)	Indel (frameshift variant +1 more)	Leigh syndrome	GLikely pathogenic
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 2499917	NM_001278716.2(FBXL4):c.680G>T (p.Gly227Val)	FBXL4 (G227V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491280	NM_001278716.2(FBXL4):c.832G>T (p.Gly278Trp)	FBXL4 (G278W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2429040	NM_001278716.2(FBXL4):c.513-3C>A	FBXL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2429038	NM_001278716.2(FBXL4):c.1389+269G>A	FBXL4	Single nucleotide variant (intron variant)	not provided	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 2318750	NM_001278716.2(FBXL4):c.397C>T (p.Gln133Ter)	FBXL4 (Q133*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2211528	NM_001278716.2(FBXL4):c.1028G>A (p.Arg343His)	FBXL4 (R343H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2173610	NM_001278716.2(FBXL4):c.1377C>T (p.Gly459=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2135998	NM_001278716.2(FBXL4):c.880C>T (p.His294Tyr)	FBXL4 (H294Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2121202	NM_001278716.2(FBXL4):c.512+3A>G	FBXL4	Single nucleotide variant (intron variant)	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 2117269	NM_001278716.2(FBXL4):c.998A>G (p.Asp333Gly)	FBXL4 (D333G)	Single nucleotide variant (missense variant +1 more)	not provided	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 2110652	NM_001278716.2(FBXL4):c.759A>G (p.Glu253=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109095	NM_001278716.2(FBXL4):c.1317+13del	FBXL4	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2108982	NM_001278716.2(FBXL4):c.192T>C (p.His64=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2105497	NM_001278716.2(FBXL4):c.813C>A (p.Leu271=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102612	NM_001278716.2(FBXL4):c.1421T>C (p.Ile474Thr)	FBXL4 (I474T)	Single nucleotide variant (missense variant +1 more)	not provided	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 2094031	NM_001278716.2(FBXL4):c.1349G>C (p.Cys450Ser)	FBXL4 (C450S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088067	NM_001278716.2(FBXL4):c.1007C>T (p.Ser336Phe)	FBXL4 (S336F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086028	NM_001278716.2(FBXL4):c.379G>A (p.Val127Met)	FBXL4 (V127M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080709	NM_001278716.2(FBXL4):c.738A>T (p.Ile246=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074955	NM_001278716.2(FBXL4):c.858+7C>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069668	NM_001278716.2(FBXL4):c.780C>A (p.Asp260Glu)	FBXL4 (D260E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069071	NM_001278716.2(FBXL4):c.50T>C (p.Ile17Thr)	FBXL4 (I17T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068866	NM_001278716.2(FBXL4):c.858+9A>G	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066869	NM_001278716.2(FBXL4):c.1497A>G (p.Glu499=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2058411	NM_001278716.2(FBXL4):c.807T>C (p.Ala269=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058235	NM_001278716.2(FBXL4):c.1277G>A (p.Cys426Tyr)	FBXL4 (C426Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052038	NM_001278716.2(FBXL4):c.16C>T (p.Pro6Ser)	FBXL4 (P6S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2036772	NM_001278716.2(FBXL4):c.666A>G (p.Ala222=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035716	NM_001278716.2(FBXL4):c.639T>C (p.Leu213=)	FBXL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029976	NM_001278716.2(FBXL4):c.422A>G (p.His141Arg)	FBXL4 (H141R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2028262	NM_001278716.2(FBXL4):c.858+12A>C	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024954	NM_001278716.2(FBXL4):c.1104-11T>C	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2019987	NM_001278716.2(FBXL4):c.1103+14C>T	FBXL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015088	NM_001278716.2(FBXL4):c.1403A>G (p.Asp468Gly)	FBXL4 (D468G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011206	NM_001278716.2(FBXL4):c.116A>G (p.Glu39Gly)	FBXL4 (E39G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008462	NM_001278716.2(FBXL4):c.513-5G>A	FBXL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2008014	NM_001278716.2(FBXL4):c.114A>C (p.Ile38=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2000185	NM_001278716.2(FBXL4):c.1452G>A (p.Leu484=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1998587	NM_001278716.2(FBXL4):c.1531G>T (p.Asp511Tyr)	FBXL4 (D511Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1993642	NM_001278716.2(FBXL4):c.447A>G (p.Gly149=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981728	NM_001278716.2(FBXL4):c.1137C>G (p.Arg379=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1969316	NM_001278716.2(FBXL4):c.207T>C (p.Asn69=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964953	NM_001278716.2(FBXL4):c.762G>T (p.Lys254Asn)	FBXL4 (K254N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963550	NM_001278716.2(FBXL4):c.36C>T (p.Thr12=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1963351	NM_001278716.2(FBXL4):c.537A>T (p.Arg179Ser)	FBXL4 (R179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962427	NM_001278716.2(FBXL4):c.613A>G (p.Ile205Val)	FBXL4 (I205V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962387	NM_001278716.2(FBXL4):c.28G>C (p.Val10Leu)	FBXL4 (V10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1950613	NM_001278716.2(FBXL4):c.1362G>A (p.Gln454=)	FBXL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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