Related gene-specific medical variations for Gene (Select 5442) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237469	NM_005035.4(POLRMT):c.2041C>T (p.Gln681Ter)	POLRMT (Q570* +6 more)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation deficiency 55	GLikely pathogenic
Select item 3236594	NM_005035.4(POLRMT):c.3073G>A (p.Val1025Met)	POLRMT (V1011M +10 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 3216638	NM_005035.4(POLRMT):c.71G>A (p.Gly24Glu)	LOC130062833, POLRMT (G24E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2689810	NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)	POLRMT (C615Y +6 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2689809	NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)	POLRMT (A860T +7 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2689808	NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)	POLRMT (R193Q +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2671966	NM_005035.4(POLRMT):c.2002A>C (p.Thr668Pro)	POLRMT (T557P +6 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2671936	NM_005035.4(POLRMT):c.954-1G>C	POLRMT	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 55	GLikely pathogenic
Select item 2582426	NM_005035.4(POLRMT):c.2511C>G (p.Gly837=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2582312	NM_005035.4(POLRMT):c.1627-3C>T	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2569003	NM_005035.4(POLRMT):c.5C>G (p.Ser2Trp)	LOC130062834, POLRMT (S2W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2442195	NM_005035.4(POLRMT):c.2131G>C (p.Gly711Arg)	POLRMT (G600R +6 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2442159	NM_005035.4(POLRMT):c.1291-9C>A	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2442139	NM_005035.4(POLRMT):c.1378G>C (p.Val460Leu)	POLRMT (V352L +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2441977	NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)	POLRMT (P132L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant progressive external ophthalmoplegia +1 more	GUncertain significance
Select item 2441735	NM_005035.4(POLRMT):c.2029G>A (p.Ala677Thr)	POLRMT (A566T +6 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2283320	NM_005035.4(POLRMT):c.19G>T (p.Gly7Cys)	LOC130062834, POLRMT (G7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676658	NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)	POLRMT (Y1153*)	Single nucleotide variant	Combined oxidative phosphorylation deficiency 55	GLikely pathogenic