ClinVar for MedGen (Select 1806598) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064023	NM_005035.4(POLRMT):c.2763+5G>A	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	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 2671763	NM_005035.4(POLRMT):c.506A>G (p.Lys169Arg)	POLRMT (K169R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2664861	NM_005035.4(POLRMT):c.2498_2506del (p.Leu833_Pro835del)	POLRMT	Deletion (inframe_deletion +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2582470	NM_005035.4(POLRMT):c.757C>T (p.Arg253Trp)	POLRMT (R145W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582453	NM_005035.4(POLRMT):c.232G>A (p.Val78Met)	POLRMT (V78M)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 55 +2 more	GConflicting classifications of pathogenicity
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 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 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 2349432	NM_005035.4(POLRMT):c.1340G>A (p.Arg447Gln)	POLRMT (R339Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2207731	NM_005035.4(POLRMT):c.789G>T (p.Met263Ile)	POLRMT (M155I +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55 +1 more	GUncertain significance
Select item 1679187	NM_005035.4(POLRMT):c.1855G>A (p.Gly619Ser)	POLRMT (G619S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 1679186	NM_005035.4(POLRMT):c.881C>T (p.Pro294Leu)	POLRMT (P294L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	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
Select item 1341479	NM_005035.4(POLRMT):c.445C>T (p.Gln149Ter)	POLRMT (Q149*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341478	NM_005035.4(POLRMT):c.3037C>T (p.Arg1013Cys)	POLRMT (R1013C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341477	NM_005035.4(POLRMT):c.2428C>T (p.Pro810Ser)	POLRMT (P810S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341476	NM_005035.4(POLRMT):c.2775C>A (p.Cys925Ter)	POLRMT (C925*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341475	NM_005035.4(POLRMT):c.1923C>G (p.Phe641Leu)	POLRMT (F641L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341474	NM_005035.4(POLRMT):c.1832C>T (p.Ser611Phe)	POLRMT (S611F)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341473	NM_005035.4(POLRMT):c.2641-1G>C	POLRMT	Single nucleotide variant (splice acceptor variant +1 more)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341472	NM_005035.4(POLRMT):c.748C>G (p.His250Asp)	POLRMT (H250D)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 1341471	NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del)	POLRMT	Deletion (inframe_deletion)	Combined oxidative phosphorylation deficiency 55	GLikely pathogenic
Select item 1341470	NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn)	POLRMT (D870N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 1341469	NM_005035.4(POLRMT):c.[1696C>T;3578C>T]	POLRMT (S1193F +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 790376	NM_005035.4(POLRMT):c.178G>A (p.Val60Met)	POLRMT (V60M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 782965	NM_005035.4(POLRMT):c.3165C>T (p.Thr1055=)	POLRMT	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 55 +1 more	GBenign/Likely benign

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Items: 34