C5436718[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1061664	NM_001370595.2(COA8):c.40C>T (p.Pro14Ser)	COA8 (P14S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 715529	NM_001370595.2(COA8):c.81T>C (p.Ala27=)	COA8	Single nucleotide variant (synonymous variant +1 more)	COA8-related condition +2 more	GLikely benign
Select item 1681856	NM_001370595.2(COA8):c.85G>A (p.Glu29Lys)	COA8 (E29K)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GConflicting classifications of pathogenicity
Select item 1681858	NM_001370595.2(COA8):c.97G>A (p.Glu33Lys)	COA8 (E33K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 559337	NM_001370595.2(COA8):c.101G>T (p.Arg34Leu)	COA8 (R34L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 1809698	NM_001370595.2(COA8):c.106G>T (p.Asp36Tyr)	COA8 (D36Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17	GUncertain significance
Select item 514386	NM_001370595.2(COA8):c.123+6C>T	COA8	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GConflicting classifications of pathogenicity
Select item 1681860	NM_001370595.2(COA8):c.123+10G>C	COA8	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GLikely benign
Select item 515737	NM_001370595.2(COA8):c.123+10G>A	COA8	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GBenign/Likely benign
Select item 389633	NM_001370595.2(COA8):c.123+12C>T	COA8	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GLikely benign
Select item 1681861	NM_001370595.2(COA8):c.129A>C (p.Ser43=)	COA8	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GLikely benign
Select item 1681862	NM_001370595.2(COA8):c.172C>A (p.Pro58Thr)	COA8 (P58T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 156421	NM_001370595.2(COA8):c.196C>T (p.Arg66Ter)	COA8 (R66*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 1681863	NM_001370595.2(COA8):c.197G>A (p.Arg66Gln)	COA8 (R66Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GUncertain significance
Select item 380180	NM_001370595.2(COA8):c.351A>G (p.Leu117=)	COA8	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +3 more	GBenign/Likely benign
Select item 1681870	NM_001370595.2(COA8):c.433G>A (p.Glu145Lys)	COA8 (E145K +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 384236	NM_001370595.2(COA8):c.476+19C>T	COA8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign