C3554605[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 321941	NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)	LOC130060311, TTC19 (P49L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 891678	NM_017775.4(TTC19):c.304C>G (p.Arg102Gly)	TTC19 (R102G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 137767	NM_017775.4(TTC19):c.573G>A (p.Ala191=)	TTC19	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 102437	NM_017775.4(TTC19):c.601_604del (p.Gly201fs)	TTC19 (G201fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 547995	NM_017775.4(TTC19):c.766G>A (p.Ala256Thr)	TTC19 (A149T +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 215302	NM_017775.4(TTC19):c.787G>T (p.Ala263Ser)	TTC19 (A263S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 215304	NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)	TTC19 (R274G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 749241	NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)	TTC19 (I300L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity