ClinVar for MedGen (Select 815922) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25009131.	NM_001278716.2(FBXL4):c.1709_1710dup (p.Met571fs) GRCh37: Chr6:99322309-99322310 GRCh38: Chr6:98874433-98874434	FBXL4	M571fs	Mitochondrial DNA depletion syndrome 13	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 24413932.	NM_001278716.2(FBXL4):c.1390-2172C>T GRCh37: Chr6:99325775 GRCh38: Chr6:98877899	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 24413923.	NM_001278716.2(FBXL4):c.1317+137T>C GRCh37: Chr6:99347007 GRCh38: Chr6:98899131	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 24413914.	NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg) GRCh37: Chr6:99347306 GRCh38: Chr6:98899430	FBXL4	S385R	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 24413905.	NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly) GRCh37: Chr6:99323528 GRCh38: Chr6:98875652	FBXL4	C489G	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 16968426.	NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp) GRCh37: Chr6:99328468 GRCh38: Chr6:98880592	FBXL4	C450W	Mitochondrial DNA depletion syndrome 13	Likely pathogenic	criteria provided, single submitter
Select item 16968287.	NM_001278716.2(FBXL4):c.736dup (p.Ile246fs) GRCh37: Chr6:99365371-99365372 GRCh38: Chr6:98917495-98917496	FBXL4	I246fs	Mitochondrial DNA depletion syndrome 13	Pathogenic	criteria provided, single submitter
Select item 14453358.	NM_001278716.2(FBXL4):c.929T>C (p.Leu310Pro) GRCh37: Chr6:99353476 GRCh38: Chr6:98905600	FBXL4	L310P	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13431649.	NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer) GRCh37: Chr6:99323592-99323593 GRCh38: Chr6:98875716-98875717	FBXL4		Mitochondrial DNA depletion syndrome 13	Likely pathogenic (Jan 28, 2021)	criteria provided, single submitter
Select item 134156310.	NM_001278716.2(FBXL4):c.1787del (p.Ser596fs) GRCh37: Chr6:99322233 GRCh38: Chr6:98874357	FBXL4	S596fs	Mitochondrial DNA depletion syndrome 13	Likely pathogenic (Feb 15, 2022)	no assertion criteria provided
Select item 130160911.	NM_001278716.2(FBXL4):c.1784G>C (p.Cys595Ser) GRCh37: Chr6:99322236 GRCh38: Chr6:98874360	FBXL4	C595S	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118610212.	NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) GRCh37: Chr6:99374379 GRCh38: Chr6:98926503	FBXL4	Y162*	not provided, Mitochondrial DNA depletion syndrome 13	Pathogenic/Likely pathogenic (May 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118459213.	NM_001278716.2(FBXL4):c.1750del (p.Cys584fs) GRCh37: Chr6:99322270 GRCh38: Chr6:98874394	FBXL4	C584fs	Mitochondrial DNA depletion syndrome 13	Likely pathogenic	no assertion criteria provided
Select item 112021314.	NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys) GRCh37: Chr6:99374566 GRCh38: Chr6:98926690	FBXL4	Y100C	Mitochondrial DNA depletion syndrome 13	Likely pathogenic	criteria provided, single submitter
Select item 103255115.	NM_001278716.2(FBXL4):c.539C>T (p.Pro180Leu) GRCh37: Chr6:99365569 GRCh38: Chr6:98917693	FBXL4	P180L	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103255016.	NM_001278716.2(FBXL4):c.1389+11G>A GRCh37: Chr6:99328418 GRCh38: Chr6:98880542	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Jun 24, 2022)	criteria provided, conflicting interpretations
Select item 97676917.	NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro) GRCh37: Chr6:99347209 GRCh38: Chr6:98899333	FBXL4	A418P	Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2023)	criteria provided, conflicting interpretations
Select item 91753318.	NM_001278716.2(FBXL4):c.1538G>T (p.Gly513Val) GRCh37: Chr6:99323455 GRCh38: Chr6:98875579	FBXL4	G513V	Mitochondrial DNA depletion syndrome 13	Uncertain significance	no assertion criteria provided
Select item 91599119.	GRCh37/hg19 6q16.1(chr6:99347158-99374801) GRCh37: Chr6:99347158-99374801	FBXL4		Mitochondrial DNA depletion syndrome 13	Pathogenic (Apr 16, 2020)	no assertion criteria provided
Select item 80439620.	NM_001278716.2(FBXL4):c.1323del (p.Ala442fs) GRCh37: Chr6:99328495 GRCh38: Chr6:98880619	FBXL4	A442fs	Mitochondrial DNA depletion syndrome 13	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80225321.	NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) GRCh37: Chr6:99365486 GRCh38: Chr6:98917610	FBXL4	E208*	Mitochondrial DNA depletion syndrome 13	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80225222.	NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) GRCh37: Chr6:99323320 GRCh38: Chr6:98875444	FBXL4	C558Y	Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 69444423.	NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs) GRCh37: Chr6:99365475-99365481 GRCh38: Chr6:98917599-98917605	FBXL4	N210fs	not provided, Mitochondrial DNA depletion syndrome 13	Pathogenic (Apr 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43782824.	NM_001278716.2(FBXL4):c.3_5delinsCAG GRCh37: Chr6:99322149-99322151 GRCh38: Chr6:98874273-98874275	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43782725.	NM_001278716.2(FBXL4):c.*9A>G GRCh37: Chr6:99322145 GRCh38: Chr6:98874269	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (May 23, 2023)	criteria provided, conflicting interpretations
Select item 43782626.	NM_001278716.2(FBXL4):c.*5A>G GRCh37: Chr6:99322149 GRCh38: Chr6:98874273	FBXL4		not provided, Mitochondrial DNA depletion syndrome 13	Benign (Feb 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 43782527.	NM_001278716.2(FBXL4):c.*18A>G GRCh37: Chr6:99322136 GRCh38: Chr6:98874260	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43782428.	NM_001278716.2(FBXL4):c.*11G>A GRCh37: Chr6:99322143 GRCh38: Chr6:98874267	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43782329.	NM_001278716.2(FBXL4):c.*4A>G GRCh37: Chr6:99322150 GRCh38: Chr6:98874274	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43782230.	NM_001278716.2(FBXL4):c.1859C>G (p.Thr620Ser) GRCh37: Chr6:99322161 GRCh38: Chr6:98874285	FBXL4	T620S	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43782131.	NM_001278716.2(FBXL4):c.1836del (p.Val613fs) GRCh37: Chr6:99322184 GRCh38: Chr6:98874308	FBXL4	V613fs	Mitochondrial DNA depletion syndrome 13	Likely pathogenic (Aug 10, 2017)	criteria provided, single submitter
Select item 43782032.	NM_001278716.2(FBXL4):c.1826G>A (p.Ser609Asn) GRCh37: Chr6:99322194 GRCh38: Chr6:98874318	FBXL4	S609N	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43781933.	NM_001278716.2(FBXL4):c.1796A>G (p.Asp599Gly) GRCh37: Chr6:99322224 GRCh38: Chr6:98874348	FBXL4	D599G	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43781834.	NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=) GRCh37: Chr6:99322232 GRCh38: Chr6:98874356	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (May 28, 2022)	criteria provided, conflicting interpretations
Select item 43781735.	NM_001278716.2(FBXL4):c.1788G>T (p.Ser596=) GRCh37: Chr6:99322232 GRCh38: Chr6:98874356	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43781636.	NM_001278716.2(FBXL4):c.1787C>T (p.Ser596Leu) GRCh37: Chr6:99322233 GRCh38: Chr6:98874357	FBXL4	S596L	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43781537.	NM_001278716.2(FBXL4):c.1779C>T (p.Ser593=) GRCh37: Chr6:99322241 GRCh38: Chr6:98874365	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43781438.	NM_001278716.2(FBXL4):c.1778C>G (p.Ser593Cys) GRCh37: Chr6:99322242 GRCh38: Chr6:98874366	FBXL4	S593C	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43781339.	NM_001278716.2(FBXL4):c.1773T>C (p.Asp591=) GRCh37: Chr6:99322247 GRCh38: Chr6:98874371	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43781240.	NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) GRCh37: Chr6:99322248 GRCh38: Chr6:98874372	FBXL4	D591A	Mitochondrial DNA depletion syndrome 13	Conflicting interpretations of pathogenicity (Nov 16, 2017)	criteria provided, conflicting interpretations
Select item 43781141.	NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=) GRCh37: Chr6:99322256 GRCh38: Chr6:98874380	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43781042.	NM_001278716.2(FBXL4):c.1760T>C (p.Leu587Pro) GRCh37: Chr6:99322260 GRCh38: Chr6:98874384	FBXL4	L587P	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780943.	NM_001278716.2(FBXL4):c.1751G>T (p.Cys584Phe) GRCh37: Chr6:99322269 GRCh38: Chr6:98874393	FBXL4	C584F	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780844.	NM_001278716.2(FBXL4):c.1748C>G (p.Ser583Cys) GRCh37: Chr6:99322272 GRCh38: Chr6:98874396	FBXL4	S583C	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780745.	NM_001278716.2(FBXL4):c.1745A>G (p.Glu582Gly) GRCh37: Chr6:99322275 GRCh38: Chr6:98874399	FBXL4	E582G	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780646.	NM_001278716.2(FBXL4):c.1745A>C (p.Glu582Ala) GRCh37: Chr6:99322275 GRCh38: Chr6:98874399	FBXL4	E582A	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780547.	NM_001278716.2(FBXL4):c.1739T>C (p.Leu580Pro) GRCh37: Chr6:99322281 GRCh38: Chr6:98874405	FBXL4	L580P	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780448.	NM_001278716.2(FBXL4):c.1739T>G (p.Leu580Arg) GRCh37: Chr6:99322281 GRCh38: Chr6:98874405	FBXL4	L580R	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780349.	NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=) GRCh37: Chr6:99322291 GRCh38: Chr6:98874415	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780250.	NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser) GRCh37: Chr6:99322297 GRCh38: Chr6:98874421	FBXL4	A575S	Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 43780151.	NM_001278716.2(FBXL4):c.1723G>A (p.Ala575Thr) GRCh37: Chr6:99322297 GRCh38: Chr6:98874421	FBXL4	A575T	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43780052.	NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=) GRCh37: Chr6:99322298 GRCh38: Chr6:98874422	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43779953.	NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) GRCh37: Chr6:99322299 GRCh38: Chr6:98874423	FBXL4	P574L	Mitochondrial DNA depletion syndrome 13, not provided, Inborn genetic diseases	Uncertain significance (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43779854.	NM_001278716.2(FBXL4):c.1721C>A (p.Pro574Gln) GRCh37: Chr6:99322299 GRCh38: Chr6:98874423	FBXL4	P574Q	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43779755.	NM_001278716.2(FBXL4):c.1713G>A (p.Met571Ile) GRCh37: Chr6:99322307 GRCh38: Chr6:98874431	FBXL4	M571I	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43779656.	NM_001278716.2(FBXL4):c.1703-9C>T GRCh37: Chr6:99322326 GRCh38: Chr6:98874450	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43779557.	NM_001278716.2(FBXL4):c.1703-10C>A GRCh37: Chr6:99322327 GRCh38: Chr6:98874451	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43779458.	NM_001278716.2(FBXL4):c.1703-14T>C GRCh37: Chr6:99322331 GRCh38: Chr6:98874455	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Dec 23, 2021)	criteria provided, conflicting interpretations
Select item 43779359.	NM_001278716.2(FBXL4):c.1702+18A>G GRCh37: Chr6:99323273 GRCh38: Chr6:98875397	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 43779260.	NM_001278716.2(FBXL4):c.1702+11A>T GRCh37: Chr6:99323280 GRCh38: Chr6:98875404	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43779161.	NM_001278716.2(FBXL4):c.1702+6G>A GRCh37: Chr6:99323285 GRCh38: Chr6:98875409	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43779062.	NM_001278716.2(FBXL4):c.1700T>C (p.Leu567Ser) GRCh37: Chr6:99323293 GRCh38: Chr6:98875417	FBXL4	L567S	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778963.	NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=) GRCh37: Chr6:99323294 GRCh38: Chr6:98875418	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 43778864.	NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=) GRCh37: Chr6:99323304 GRCh38: Chr6:98875428	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778765.	NM_001278716.2(FBXL4):c.1685A>G (p.Gln562Arg) GRCh37: Chr6:99323308 GRCh38: Chr6:98875432	FBXL4	Q562R	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778666.	NM_001278716.2(FBXL4):c.1681T>A (p.Leu561Ile) GRCh37: Chr6:99323312 GRCh38: Chr6:98875436	FBXL4	L561I	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778567.	NM_001278716.2(FBXL4):c.1672T>G (p.Cys558Gly) GRCh37: Chr6:99323321 GRCh38: Chr6:98875445	FBXL4	C558G	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778468.	NM_001278716.2(FBXL4):c.1670A>G (p.Asn557Ser) GRCh37: Chr6:99323323 GRCh38: Chr6:98875447	FBXL4	N557S	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778369.	NM_001278716.2(FBXL4):c.1662G>A (p.Leu554=) GRCh37: Chr6:99323331 GRCh38: Chr6:98875455	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778270.	NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=) GRCh37: Chr6:99323337 GRCh38: Chr6:98875461	FBXL4		not provided, Mitochondrial DNA depletion syndrome 13	Conflicting interpretations of pathogenicity (Jan 1, 2022)	criteria provided, conflicting interpretations
Select item 43778171.	NM_001278716.2(FBXL4):c.1631G>A (p.Arg544Lys) GRCh37: Chr6:99323362 GRCh38: Chr6:98875486	FBXL4	R544K	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43778072.	NM_001278716.2(FBXL4):c.1628A>C (p.Asn543Thr) GRCh37: Chr6:99323365 GRCh38: Chr6:98875489	FBXL4	N543T	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777973.	NM_001278716.2(FBXL4):c.1626T>G (p.Ala542=) GRCh37: Chr6:99323367 GRCh38: Chr6:98875491	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777874.	NM_001278716.2(FBXL4):c.1617T>G (p.Phe539Leu) GRCh37: Chr6:99323376 GRCh38: Chr6:98875500	FBXL4	F539L	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777775.	NM_001278716.2(FBXL4):c.1594C>G (p.Leu532Val) GRCh37: Chr6:99323399 GRCh38: Chr6:98875523	FBXL4	L532V	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43777676.	NM_001278716.2(FBXL4):c.1592A>G (p.Gln531Arg) GRCh37: Chr6:99323401 GRCh38: Chr6:98875525	FBXL4	Q531R	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777577.	NM_001278716.2(FBXL4):c.1580G>T (p.Arg527Ile) GRCh37: Chr6:99323413 GRCh38: Chr6:98875537	FBXL4	R527I	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777478.	NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=) GRCh37: Chr6:99323424 GRCh38: Chr6:98875548	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777379.	NM_001278716.2(FBXL4):c.1567G>A (p.Gly523Arg) GRCh37: Chr6:99323426 GRCh38: Chr6:98875550	FBXL4	G523R	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43777280.	NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=) GRCh37: Chr6:99323427 GRCh38: Chr6:98875551	FBXL4		Mitochondrial DNA depletion syndrome 13, not provided	Conflicting interpretations of pathogenicity (Feb 25, 2022)	criteria provided, conflicting interpretations
Select item 43777181.	NM_001278716.2(FBXL4):c.1564A>G (p.Thr522Ala) GRCh37: Chr6:99323429 GRCh38: Chr6:98875553	FBXL4	T522A	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43777082.	NM_001278716.2(FBXL4):c.1553T>G (p.Leu518Arg) GRCh37: Chr6:99323440 GRCh38: Chr6:98875564	FBXL4	L518R	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776983.	NM_001278716.2(FBXL4):c.1549A>C (p.Thr517Pro) GRCh37: Chr6:99323444 GRCh38: Chr6:98875568	FBXL4	T517P	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776884.	NM_001278716.2(FBXL4):c.1546C>T (p.Pro516Ser) GRCh37: Chr6:99323447 GRCh38: Chr6:98875571	FBXL4	P516S	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43776785.	NM_001278716.2(FBXL4):c.1533C>A (p.Asp511Glu) GRCh37: Chr6:99323460 GRCh38: Chr6:98875584	FBXL4	D511E	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776686.	NM_001278716.2(FBXL4):c.1528C>G (p.Leu510Val) GRCh37: Chr6:99323465 GRCh38: Chr6:98875589	FBXL4	L510V	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776587.	NM_001278716.2(FBXL4):c.1526A>C (p.Glu509Ala) GRCh37: Chr6:99323467 GRCh38: Chr6:98875591	FBXL4	E509A	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776488.	NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=) GRCh37: Chr6:99323475 GRCh38: Chr6:98875599	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776389.	NM_001278716.2(FBXL4):c.1508G>T (p.Gly503Val) GRCh37: Chr6:99323485 GRCh38: Chr6:98875609	FBXL4	G503V	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776290.	NM_001278716.2(FBXL4):c.1483A>C (p.Asn495His) GRCh37: Chr6:99323510 GRCh38: Chr6:98875634	FBXL4	N495H	Mitochondrial DNA depletion syndrome 13, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43776191.	NM_001278716.2(FBXL4):c.1468A>G (p.Lys490Glu) GRCh37: Chr6:99323525 GRCh38: Chr6:98875649	FBXL4	K490E	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43776092.	NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=) GRCh37: Chr6:99323529 GRCh38: Chr6:98875653	FBXL4		not provided, Mitochondrial DNA depletion syndrome 13	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 43775993.	NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=) GRCh37: Chr6:99323544 GRCh38: Chr6:98875668	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43775894.	NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln) GRCh37: Chr6:99323548 GRCh38: Chr6:98875672	FBXL4	R482Q	not provided, Mitochondrial DNA depletion syndrome 13	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 43775795.	NM_001278716.2(FBXL4):c.1440A>T (p.Lys480Asn) GRCh37: Chr6:99323553 GRCh38: Chr6:98875677	FBXL4	K480N	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43775696.	NM_001278716.2(FBXL4):c.1428C>A (p.Ala476=) GRCh37: Chr6:99323565 GRCh38: Chr6:98875689	FBXL4		Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43775597.	NM_001278716.2(FBXL4):c.1422A>G (p.Ile474Met) GRCh37: Chr6:99323571 GRCh38: Chr6:98875695	FBXL4	I474M	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 43775498.	NM_001278716.2(FBXL4):c.1400A>G (p.Tyr467Cys) GRCh37: Chr6:99323593 GRCh38: Chr6:98875717	FBXL4	Y467C	not provided, Mitochondrial DNA depletion syndrome 13	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43775399.	NM_001278716.2(FBXL4):c.1399T>A (p.Tyr467Asn) GRCh37: Chr6:99323594 GRCh38: Chr6:98875718	FBXL4	Y467N	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter
Select item 437752100.	NM_001278716.2(FBXL4):c.1396G>C (p.Asp466His) GRCh37: Chr6:99323597 GRCh38: Chr6:98875721	FBXL4	D466H	Mitochondrial DNA depletion syndrome 13	Uncertain significance (Aug 10, 2017)	criteria provided, single submitter

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