ClinVar for MedGen (Select 343245) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896954	NM_001256007.3(PNPLA8):c.1056+1G>A	PNPLA8	Single nucleotide variant (splice donor variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 3777700	NM_001256007.3(PNPLA8):c.1559T>A (p.Val520Asp)	PNPLA8 (V520D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GPathogenic
Select item 3777699	NM_001256007.3(PNPLA8):c.1231C>T (p.Arg411Ter)	PNPLA8 (R411* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GPathogenic
Select item 3777698	NM_001256007.3(PNPLA8):c.2269del (p.Thr757fs)	PNPLA8 (T657fs +2 more)	Deletion (frameshift variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GPathogenic
Select item 3777697	H625R	PNPLA8	Single nucleotide variant	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GPathogenic
Select item 3255561	NM_001256007.3(PNPLA8):c.692G>A (p.Arg231Gln)	PNPLA8 (R131Q +1 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 3065896	NM_001256007.3(PNPLA8):c.1748_1749del (p.Tyr583fs)	PNPLA8 (Y483fs +1 more)	Deletion (frameshift variant +1 more)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 2627572	NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)	PNPLA8	Single nucleotide variant (synonymous variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 2584537	NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)	PNPLA8 (N439fs +1 more)	Insertion (frameshift variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 2581318	NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)	PNPLA8 (L191fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2442089	NM_001256007.3(PNPLA8):c.1441G>A (p.Gly481Ser)	PNPLA8 (G381S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 2442058	NM_001256007.3(PNPLA8):c.524del (p.Ser175fs)	PNPLA8 (S175fs +1 more)	Deletion (frameshift variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GPathogenic
Select item 2231916	NM_001256007.3(PNPLA8):c.1996G>C (p.Asp666His)	PNPLA8 (D604H +2 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1806132	NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)	PNPLA8 (F515Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 1805799	NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)	PNPLA8 (V210A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1332796	NM_001256007.3(PNPLA8):c.517G>T (p.Glu173Ter)	PNPLA8 (E173* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GPathogenic
Select item 1330216	NM_001256007.3(PNPLA8):c.1874A>G (p.His625Arg)	PNPLA8 (H525R +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 1328387	NM_001256007.3(PNPLA8):c.1637del (p.Gly546fs)	PNPLA8 (G446fs +1 more)	Deletion (frameshift variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 1328386	NM_001256007.3(PNPLA8):c.1904C>T (p.Pro635Leu)	PNPLA8 (P535L +2 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 1327428	NM_001256007.3(PNPLA8):c.1358+16T>C	PNPLA8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327427	NM_001256007.3(PNPLA8):c.1626-15del	PNPLA8	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1050814	NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer)	PNPLA8	Deletion (nonsense)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 1031939	NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys)	PNPLA8 (R125C +1 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome +1 more	GUncertain significance
Select item 870407	NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys)	PNPLA8 (E721K +2 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GUncertain significance
Select item 804406	NM_001256007.3(PNPLA8):c.1580G>A (p.Trp527Ter)	PNPLA8 (W527* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial myopathy-lactic acidosis-deafness syndrome	GLikely pathogenic
Select item 634462	NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys)	PNPLA8 (R187C +1 more)	Single nucleotide variant (missense variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373186	NM_001256007.3(PNPLA8):c.419C>A (p.Ser140Ter)	PNPLA8 (S140* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 190128	NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs)	PNPLA8 (L659fs +2 more)	Microsatellite (frameshift variant)	Mitochondrial myopathy-lactic acidosis-deafness syndrome +1 more	GPathogenic
Select item 190127	NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs)	PNPLA8 (N112fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic

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Items: 29