C3279699[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1439000	NM_017866.6(TMEM70):c.10C>G (p.Leu4Val)	TMEM70 (L4V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1660187	NM_017866.6(TMEM70):c.211-11T>C	TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 137677	NM_017866.6(TMEM70):c.211-6C>T	TMEM70	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1360814	NM_017866.6(TMEM70):c.233A>G (p.Tyr78Cys)	TMEM70 (Y78C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 30958	NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter)	TMEM70 (R80*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +2 more	GPathogenic
Select item 540	NM_017866.6(TMEM70):c.317-2A>G	TMEM70	Single nucleotide variant (splice acceptor variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 842058	NM_017866.6(TMEM70):c.410C>T (p.Pro137Leu)	TMEM70 (P137L)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 909749	NM_017866.6(TMEM70):c.422A>G (p.Gln141Arg)	TMEM70 (Q141R)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 571761	NM_017866.6(TMEM70):c.440T>C (p.Ile147Thr)	TMEM70 (I147T)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 137679	NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys)	TMEM70 (N228K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1511241	NM_017866.6(TMEM70):c.763C>T (p.Arg255Trp)	TMEM70 (R255W)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance