4508[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2092121.	NC_012920.1:m.5782_13922del8141 GRCh37: ChrMT:5782-13922 GRCh38: ChrMT:5782-13922	MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TR, MT-TS1, MT-TK, MT-TL2, MT-TS2, MT-TH, MT-TY, MT-ND4, MT-TG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3		Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 2092132.	NC_012920.1:m.5794_14876del9083 GRCh37: ChrMT:5794-14876 GRCh38: ChrMT:5794-14876	MT-CYB, MT-ND3, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY, MT-ATP6, MT-ATP8, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-ND6, MT-TC, MT-TD, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TK		Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 4306743.	NC_012920.1:m.6003_11220del5218 GRCh37: ChrMT:6003-11220 GRCh38: ChrMT:6003-11220	MT-TR, MT-TS1, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306754.	NC_012920.1:m.6469_15587del9119 GRCh37: ChrMT:6468-15586 GRCh38: ChrMT:6468-15586	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306765.	NC_012920.1:m.7129_13991del6863 GRCh37: ChrMT:7126-13988 GRCh38: ChrMT:7126-13988	MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-TD, MT-TG, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-ND4, MT-ND4L, MT-ND5, MT-TH, MT-TK, MT-ATP6, MT-ATP8		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306776.	NC_012920.1:m.7730_11255del3526 GRCh37: ChrMT:7730-11255 GRCh38: ChrMT:7730-11255	MT-CO3, MT-ND3, MT-ATP6, MT-ATP8, MT-CO2, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306787.	NC_012920.1:m.8290_13040del4751 GRCh37: ChrMT:8290-13040 GRCh38: ChrMT:8290-13040	MT-TR, MT-TS2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 6381478.	NC_012920.1:m.8350_13450del GRCh37: ChrMT:8350-13450 GRCh38: ChrMT:8350-13450	MT-TR, MT-TS2, MT-TK, MT-TL2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH		Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 4306809.	NC_012920.1:m.8483_13459del4977 GRCh37: ChrMT:8470-13446 GRCh38: ChrMT:8470-13446	MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2, MT-CO3, MT-ND3, MT-ND4, MT-ATP6, MT-ATP8, MT-ND4L, MT-ND5		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 63814610.	NC_012920.1:m.8480_13440del GRCh37: ChrMT:8480-13440 GRCh38: ChrMT:8480-13440	MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TR, MT-TS2, MT-TG, MT-TH, MT-TL2		Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 23529411.	NC_012920.1:m.8527A>G GRCh37: ChrMT:8527 GRCh38: ChrMT:8527	MT-ATP8, MT-ATP6		not provided, Leigh syndrome	Benign/Likely benign (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 964012.	m.8528T>C GRCh37: ChrMT:8528 GRCh38: ChrMT:8528	MT-ATP6, MT-ATP8		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 963913.	m.8529G>A GRCh37: ChrMT:8529 GRCh38: ChrMT:8529	MT-ATP6, MT-ATP8		Cardiomyopathy, apical hypertrophic, and neuropathy	Pathogenic (Nov 2, 2016)	no assertion criteria provided
Select item 69288714.	NC_012920.1:m.8530A>G GRCh37: ChrMT:8530 GRCh38: ChrMT:8530	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69288815.	NC_012920.1:m.8531A>G GRCh37: ChrMT:8531 GRCh38: ChrMT:8531	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69288916.	NC_012920.1:m.8533G>A GRCh37: ChrMT:8533 GRCh38: ChrMT:8533	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289017.	NC_012920.1:m.8537A>G GRCh37: ChrMT:8537 GRCh38: ChrMT:8537	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 23532618.	NC_012920.1:m.8538T>C GRCh37: ChrMT:8538 GRCh38: ChrMT:8538	MT-ATP6, MT-ATP8		not provided	Uncertain significance (Sep 25, 2015)	criteria provided, single submitter
Select item 23522719.	NC_012920.1:m.8540T>C GRCh37: ChrMT:8540 GRCh38: ChrMT:8540	MT-ATP6, MT-ATP8		not provided, Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69289120.	NC_012920.1:m.8541G>A GRCh37: ChrMT:8541 GRCh38: ChrMT:8541	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289221.	NC_012920.1:m.8542T>C GRCh37: ChrMT:8542 GRCh38: ChrMT:8542	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289322.	NC_012920.1:m.8545G>A GRCh37: ChrMT:8545 GRCh38: ChrMT:8545	MT-ATP8, MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289423.	NC_012920.1:m.8547T>C GRCh37: ChrMT:8547 GRCh38: ChrMT:8547	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289524.	NC_012920.1:m.8548T>C GRCh37: ChrMT:8548 GRCh38: ChrMT:8548	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289625.	NC_012920.1:m.8550A>G GRCh37: ChrMT:8550 GRCh38: ChrMT:8550	MT-ATP6, MT-ATP8		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69289726.	NC_012920.1:m.8551T>C GRCh37: ChrMT:8551 GRCh38: ChrMT:8551	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69289827.	NC_012920.1:m.8552T>C GRCh37: ChrMT:8552 GRCh38: ChrMT:8552	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 61872028.	NC_012920.1:m.8553C>T GRCh37: ChrMT:8553 GRCh38: ChrMT:8553	MT-ATP8, MT-ATP6		not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2019)	criteria provided, conflicting interpretations
Select item 69289929.	NC_012920.1:m.8554A>G GRCh37: ChrMT:8554 GRCh38: ChrMT:8554	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69290130.	NC_012920.1:m.8557G>C GRCh37: ChrMT:8557 GRCh38: ChrMT:8557	MT-ATP6, MT-ATP8		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69290031.	NC_012920.1:m.8557G>A GRCh37: ChrMT:8557 GRCh38: ChrMT:8557	MT-ATP6, MT-ATP8		Mitochondrial disease	Benign (Mar 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 59099832.	NC_012920.1:m.8561_8562insCAC GRCh37: ChrMT:8560-8561 GRCh38: ChrMT:8560-8561	MT-ATP6, MT-ATP8		Abnormal mitral valve physiology	Pathogenic	no assertion criteria provided
Select item 69290233.	NC_012920.1:m.8562C>T GRCh37: ChrMT:8562 GRCh38: ChrMT:8562	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69290334.	NC_012920.1:m.8563A>G GRCh37: ChrMT:8563 GRCh38: ChrMT:8563	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 23549235.	NC_012920.1:m.8565A>G GRCh37: ChrMT:8565 GRCh38: ChrMT:8565	MT-ATP6, MT-ATP8		not provided	Uncertain significance (Oct 9, 2015)	criteria provided, single submitter
Select item 69290436.	NC_012920.1:m.8566A>G GRCh37: ChrMT:8566 GRCh38: ChrMT:8566	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69290537.	NC_012920.1:m.8567T>C GRCh37: ChrMT:8567 GRCh38: ChrMT:8567	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 91801938.	NC_012920.1:m.8568C>T GRCh37: ChrMT:8568 GRCh38: ChrMT:8568	MT-ATP6, MT-ATP8		not provided	not provided	no assertion provided
Select item 69290639.	NC_012920.1:m.8568C>A GRCh37: ChrMT:8568 GRCh38: ChrMT:8568	MT-ATP6, MT-ATP8		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 86916240.	NC_012920.1:m.8570T>C GRCh37: ChrMT:8570 GRCh38: ChrMT:8570	MT-ATP6, MT-ATP8		Acidosis, Increased serum lactate, Anemia, Failure to thrive	Likely pathogenic (Dec 9, 2019)	criteria provided, single submitter
Select item 69290741.	NC_012920.1:m.8572G>A GRCh37: ChrMT:8572 GRCh38: ChrMT:8572	MT-ATP6, MT-ATP8		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69290842.	NC_012920.1(MT-ATP6):m.8573G>A GRCh37: ChrMT:8573 GRCh38: ChrMT:8573	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69290943.	NC_012920.1(MT-ATP6):m.8576T>C GRCh37: ChrMT:8576 GRCh38: ChrMT:8576	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69291044.	NC_012920.1(MT-ATP6):m.8578C>T GRCh37: ChrMT:8578 GRCh38: ChrMT:8578	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69291145.	NC_012920.1(MT-ATP6):m.8581G>A GRCh37: ChrMT:8581 GRCh38: ChrMT:8581	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69291246.	NC_012920.1(MT-ATP6):m.8582C>T GRCh37: ChrMT:8582 GRCh38: ChrMT:8582	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69291347.	NC_012920.1(MT-ATP6):m.8584G>A GRCh37: ChrMT:8584 GRCh38: ChrMT:8584	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 43068148.	NC_012920.1:m.8587_12967del4381 GRCh37: ChrMT:8585-12965 GRCh38: ChrMT:8585-12965	MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 69291449.	NC_012920.1(MT-ATP6):m.8588T>C GRCh37: ChrMT:8588 GRCh38: ChrMT:8588	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69291550.	NC_012920.1(MT-ATP6):m.8591T>C GRCh37: ChrMT:8591 GRCh38: ChrMT:8591	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69291651.	NC_012920.1(MT-ATP6):m.8593A>G GRCh37: ChrMT:8593 GRCh38: ChrMT:8593	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69291752.	NC_012920.1(MT-ATP6):m.8596A>G GRCh37: ChrMT:8596 GRCh38: ChrMT:8596	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69291853.	NC_012920.1(MT-ATP6):m.8597T>C GRCh37: ChrMT:8597 GRCh38: ChrMT:8597	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69291954.	NC_012920.1(MT-ATP6):m.8599C>A GRCh37: ChrMT:8599 GRCh38: ChrMT:8599	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69292055.	NC_012920.1(MT-ATP6):m.8602T>C GRCh37: ChrMT:8602 GRCh38: ChrMT:8602	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69292156.	NC_012920.1(MT-ATP6):m.8603T>C GRCh37: ChrMT:8603 GRCh38: ChrMT:8603	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69292257.	NC_012920.1(MT-ATP6):m.8605C>T GRCh37: ChrMT:8605 GRCh38: ChrMT:8605	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69292358.	NC_012920.1(MT-ATP6):m.8609C>T GRCh37: ChrMT:8609 GRCh38: ChrMT:8609	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69292459.	NC_012920.1(MT-ATP6):m.8612T>C GRCh37: ChrMT:8612 GRCh38: ChrMT:8612	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69292560.	NC_012920.1(MT-ATP6):m.8615T>C GRCh37: ChrMT:8615 GRCh38: ChrMT:8615	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 23562661.	NC_012920.1(MT-ATP6):m.8616G>T GRCh37: ChrMT:8616 GRCh38: ChrMT:8616	MT-ATP6		not provided, Leigh syndrome	Benign/Likely benign (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69292662.	NC_012920.1(MT-ATP6):m.8617A>G GRCh37: ChrMT:8617 GRCh38: ChrMT:8617	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 964863.	m.8618dupT GRCh37: ChrMT:8617-8618 GRCh38: ChrMT:8617-8618	MT-ATP6		NARP syndrome	Pathogenic (Jan 1, 2009)	no assertion criteria provided
Select item 69292764.	NC_012920.1(MT-ATP6):m.8618T>C GRCh37: ChrMT:8618 GRCh38: ChrMT:8618	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 23545165.	NC_012920.1:m.8619C>T GRCh37: ChrMT:8619 GRCh38: ChrMT:8619	MT-ATP6		not provided	Likely benign (Aug 12, 2015)	criteria provided, single submitter
Select item 69293066.	NC_012920.1(MT-ATP6):m.8623A>T GRCh37: ChrMT:8623 GRCh38: ChrMT:8623	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69292967.	NC_012920.1(MT-ATP6):m.8623A>G GRCh37: ChrMT:8623 GRCh38: ChrMT:8623	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69292868.	NC_012920.1(MT-ATP6):m.8623A>C GRCh37: ChrMT:8623 GRCh38: ChrMT:8623	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69293169.	NC_012920.1(MT-ATP6):m.8624C>T GRCh37: ChrMT:8624 GRCh38: ChrMT:8624	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69293270.	NC_012920.1(MT-ATP6):m.8626T>C GRCh37: ChrMT:8626 GRCh38: ChrMT:8626	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69293371.	NC_012920.1(MT-ATP6):m.8632T>C GRCh37: ChrMT:8632 GRCh38: ChrMT:8632	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69293472.	NC_012920.1(MT-ATP6):m.8635C>T GRCh37: ChrMT:8635 GRCh38: ChrMT:8635	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 132690573.	NC_012920.1(MT-ATP6):m.8636T>C GRCh37: ChrMT:8636 GRCh38: ChrMT:8636	MT-ATP6		not provided	not provided	no assertion provided
Select item 69293574.	NC_012920.1(MT-ATP6):m.8638A>G GRCh37: ChrMT:8638 GRCh38: ChrMT:8638	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69293675.	NC_012920.1(MT-ATP6):m.8639T>C GRCh37: ChrMT:8639 GRCh38: ChrMT:8639	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69293776.	NC_012920.1(MT-ATP6):m.8641A>G GRCh37: ChrMT:8641 GRCh38: ChrMT:8641	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69293977.	NC_012920.1(MT-ATP6):m.8642A>C GRCh37: ChrMT:8642 GRCh38: ChrMT:8642	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69293878.	NC_012920.1(MT-ATP6):m.8642A>G GRCh37: ChrMT:8642 GRCh38: ChrMT:8642	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294079.	NC_012920.1(MT-ATP6):m.8648G>A GRCh37: ChrMT:8648 GRCh38: ChrMT:8648	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 44112980.	NC_012920.1:m.8651T>C GRCh37: ChrMT:8651 GRCh38: ChrMT:8651	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69294181.	NC_012920.1(MT-ATP6):m.8653A>G GRCh37: ChrMT:8653 GRCh38: ChrMT:8653	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294282.	NC_012920.1(MT-ATP6):m.8654T>C GRCh37: ChrMT:8654 GRCh38: ChrMT:8654	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294383.	NC_012920.1(MT-ATP6):m.8656A>G GRCh37: ChrMT:8656 GRCh38: ChrMT:8656	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294484.	NC_012920.1(MT-ATP6):m.8657C>T GRCh37: ChrMT:8657 GRCh38: ChrMT:8657	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294585.	NC_012920.1(MT-ATP6):m.8659A>G GRCh37: ChrMT:8659 GRCh38: ChrMT:8659	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294686.	NC_012920.1(MT-ATP6):m.8666A>G GRCh37: ChrMT:8666 GRCh38: ChrMT:8666	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294787.	NC_012920.1(MT-ATP6):m.8668T>C GRCh37: ChrMT:8668 GRCh38: ChrMT:8668	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 61871788.	NC_012920.1:m.8669G>C GRCh37: ChrMT:8669 GRCh38: ChrMT:8669	MT-ATP6		not provided	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 69294889.	NC_012920.1(MT-ATP6):m.8679A>C GRCh37: ChrMT:8679 GRCh38: ChrMT:8679	MT-ATP6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69294990.	NC_012920.1(MT-ATP6):m.8681T>C GRCh37: ChrMT:8681 GRCh38: ChrMT:8681	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69295091.	NC_012920.1(MT-ATP6):m.8683A>G GRCh37: ChrMT:8683 GRCh38: ChrMT:8683	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69295192.	NC_012920.1(MT-ATP6):m.8684C>T GRCh37: ChrMT:8684 GRCh38: ChrMT:8684	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 61871893.	NC_012920.1:m.8686T>A GRCh37: ChrMT:8686 GRCh38: ChrMT:8686	MT-ATP6		not provided	Uncertain significance (May 30, 2018)	criteria provided, single submitter
Select item 58512094.	NC_012920.1:m.8686T>C GRCh37: ChrMT:8686 GRCh38: ChrMT:8686	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69295295.	NC_012920.1(MT-ATP6):m.8697G>T GRCh37: ChrMT:8697 GRCh38: ChrMT:8697	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69295396.	NC_012920.1(MT-ATP6):m.8699T>C GRCh37: ChrMT:8699 GRCh38: ChrMT:8699	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69295497.	NC_012920.1(MT-ATP6):m.8700A>T GRCh37: ChrMT:8700 GRCh38: ChrMT:8700	MT-ATP6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69295598.	NC_012920.1(MT-ATP6):m.8701A>G GRCh37: ChrMT:8701 GRCh38: ChrMT:8701	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69295699.	NC_012920.1(MT-ATP6):m.8702C>T GRCh37: ChrMT:8702 GRCh38: ChrMT:8702	MT-ATP6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 235260100.	NC_012920.1(MT-ATP6):m.8704A>G GRCh37: ChrMT:8704 GRCh38: ChrMT:8704	MT-ATP6		not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2019)	criteria provided, conflicting interpretations

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