C0023264[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +9 more	GPathogenic/Likely pathogenic
Select item 221076	NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)	SDHA (I235T +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +6 more	GUncertain significance
Select item 931329	NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)	SDHA (L568fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	SURF1-related disorder +11 more	GPathogenic
Select item 373217	NM_003172.4(SURF1):c.751+5G>A	SURF1	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 305758	NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)	LOC126861242, NDUFV1 (R460W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +5 more	GUncertain significance
Select item 95754	NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)	FOXRED1 (A206fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex I deficiency +5 more	GConflicting classifications of pathogenicity
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic
Select item 692405	NC_012920.1(MT-ND1):m.3887A>G	MT-ND1	Single nucleotide variant	See cases +1 more	GUncertain significance
Select item 373996	NC_012920.1(MT-CO2):m.8084A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
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 690280	NC_012920.1(MT-ATP6):m.9035T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693062	NC_012920.1(MT-ATP6):m.9038T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance 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 693181	NC_012920.1(MT-CO3):m.9549C>T	MT-CO3	Single nucleotide variant	See cases +1 more	GUncertain significance
Select item 9652	NC_012920.1(MT-CO3):m.9804G>A	MT-CO3	Single nucleotide variant	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 523304	NC_012920.1(MT-ND4):m.11360A>G	MT-ND4	Single nucleotide variant	Seizure +2 more	GUncertain significance
Select item 374080	NC_012920.1(MT-ND6):m.14598T>C	MT-ND6	Single nucleotide variant	Parkinsonian disorder +2 more	GConflicting classifications of pathogenicity