C0751651[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16160	NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	MPV17 (R50Q)	Single nucleotide variant (missense variant)	Mitochondrial disease +3 more	GPathogenic
Select item 5091	NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	OPA1 (R500H +8 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +8 more	GPathogenic/Likely pathogenic
Select item 30432	NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer)	RRM2B	Deletion (nonsense)	Mitochondrial disease +1 more	GPathogenic
Select item 132103	NM_015713.5(RRM2B):c.48G>A (p.Glu16=)	LOC130000896, RRM2B	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 8a +3 more	GPathogenic/Likely pathogenic
Select item 694394	NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)	TWNK (R265C)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease +4 more	GConflicting classifications of pathogenicity
Select item 21315	NM_002693.3(POLG):c.3630dup (p.Gly1211fs)	POLG, POLGARF (G1211fs)	Duplication (frameshift variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 21314	NM_002693.3(POLG):c.3488T>G (p.Met1163Arg)	POLG, POLGARF (M1163R)	Single nucleotide variant (missense variant)	Mitochondrial disease	Gnot provided
Select item 13495	NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)	POLG (Y955C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG (G848S)	Single nucleotide variant (missense variant)	Mitochondrial disease +12 more	GPathogenic
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG (W748S)	Single nucleotide variant (missense variant)	Mitochondrial disease +8 more	GPathogenic/Likely pathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG (P587L)	Single nucleotide variant (missense variant)	Mitochondrial disease +15 more	GConflicting classifications of pathogenicity
Select item 65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG (G517V)	Single nucleotide variant (missense variant)	Tip-toe gait +10 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG (A467T)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +12 more	GPathogenic
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG (T251I)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +16 more	GConflicting classifications of pathogenicity
Select item 21319	NM_002693.3(POLG):c.695G>A (p.Arg232His)	POLG, POLGARF (R232H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 9573	NC_012920.1(MT-CYB):m.583G>A	MT-TF	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9632	NC_012920.1(MT-ND1):m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	kanamycin response - Toxicity +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 9628	NC_012920.1(MT-ND1):m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	tobramycin response - Toxicity +6 more	GPathogenic; drug response FDA Recognized database
Select item 689846	NC_012920.1(MT-CYB):m.1644G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Cerebral palsy +12 more	GPathogenic/Likely pathogenic
Select item 9591	NC_012920.1(MT-TL1):m.3256C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9596	NC_012920.1(MT-TL1):m.3260A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9590	NC_012920.1(MT-TL1):m.3271T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 223247	NC_012920.1(MT-TL1):m.3291T>C	MT-ND1, MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65921	m.3376G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9722	NC_012920.1(MT-ND1):m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 65518	m.3635G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65519	m.3700G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9736	m.3733G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 155881	NC_012920.1(MT-ND1):m.3890G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9723	NC_012920.1(MT-ND1):m.4160T>C	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9732	m.4171C>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9616	NC_012920.1(MT-TQ):m.4332G>A	MT-TQ	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9717	m.5244G>A	MT-ND2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9556	NC_012920.1(MT-TW):m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9663	NC_012920.1(MT-CO1):m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9563	NC_012920.1(MT-TS1):m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 42226	NC_012920.1(MT-TS1):m.7471dup	MT-TS1	Duplication	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9565	m.7510T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9566	NC_012920.1(MT-TS1):m.7511T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9579	NC_012920.1(MT-TK):m.8344A>G	MT-TK	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9580	m.8356T>C	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9581	NC_012920.1(MT-TK):m.8363G>A	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 155892	NC_012920.1(MT-ATP6):m.8839G>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 9645	NC_012920.1(MT-ATP6):m.8851T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9642	NC_012920.1(MT-ATP6):m.8993T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9650	NC_012920.1(MT-ATP6):m.9176T>G	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9644	NC_012920.1(MT-ATP6):m.9176T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9647	NC_012920.1(MT-ATP6):m.9185T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 40153	NC_012920.1(MT-ATP6):m.9191T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9714	NC_012920.1(MT-ND3):m.10158T>C	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9712	NC_012920.1(MT-ND3):m.10191T>C	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9715	NC_012920.1(MT-ND3):m.10197G>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9707	m.10663T>C	MT-ND4L	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9711	NC_012920.1(MT-ND4):m.11777C>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9708	NC_012920.1(MT-ND4):m.11778G>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9610	NC_012920.1(MT-TH):m.12147G>A	MT-TH	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9698	NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)	MT-ND5 (F124L)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65510	NC_012920.1(MT-ND5):m.12811T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 9703	NC_012920.1(MT-ND5):m.13042G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9701	NC_012920.1(MT-ND5):m.13084A>T	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9702	NC_012920.1(MT-ND5):m.13513G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 155889	NC_012920.1(MT-ND5):m.13514A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 618218	NC_012920.1(MT-ND5):m.13528A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9697	NC_012920.1(MT-ND5):m.13730G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9692	NC_012920.1(MT-ND6):m.14453G>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9689	NC_012920.1(MT-ND6):m.14459G>A	MT-ND5, MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 65513	m.14482C>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9693	NC_012920.1(MT-ND6):m.14482C>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9688	NC_012920.1(MT-ND6):m.14484T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9694	NC_012920.1(MT-ND6):m.14487T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9691	m.14495A>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65515	m.14568C>T	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9690	NC_012920.1(MT-ND6):m.14596A>T	MT-ND6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database

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Items: 78