"Ambry Genetics"[submitter] AND "COQ9"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1350593	NM_020312.4(COQ9):c.11C>T (p.Ala4Val)	COQ9, LOC112469007 (A4V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417926	NM_020312.4(COQ9):c.14C>G (p.Ala5Gly)	COQ9, LOC112469007 (A5G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910046	NM_020312.4(COQ9):c.14C>T (p.Ala5Val)	COQ9, LOC112469007 (A5V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887924	NM_020312.4(COQ9):c.20C>T (p.Ser7Phe)	COQ9, LOC112469007 (S7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1522662	NM_020312.4(COQ9):c.28C>T (p.Leu10Phe)	COQ9, LOC112469007 (L10F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3268993	NM_020312.4(COQ9):c.35G>A (p.Arg12Gln)	COQ9, LOC112469007 (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268992	NM_020312.4(COQ9):c.38C>A (p.Ala13Glu)	COQ9, LOC112469007 (A13E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1438917	NM_020312.4(COQ9):c.40G>C (p.Gly14Arg)	COQ9, LOC112469007 (G14R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2339131	NM_020312.4(COQ9):c.86G>A (p.Arg29Gln)	COQ9 (R29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2541194	NM_020312.4(COQ9):c.116C>T (p.Ala39Val)	COQ9 (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300747	NM_020312.4(COQ9):c.143A>G (p.Asp48Gly)	COQ9 (D48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1469883	NM_020312.4(COQ9):c.154C>G (p.Gln52Glu)	COQ9 (Q52E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1413526	NM_020312.4(COQ9):c.167A>G (p.Asn56Ser)	COQ9 (N56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214241	NM_020312.4(COQ9):c.184C>T (p.His62Tyr)	COQ9 (H62Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214244	NM_020312.4(COQ9):c.242+5G>A	COQ9	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2486975	NM_020312.4(COQ9):c.281A>C (p.Glu94Ala)	COQ9 (E94A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467884	NM_020312.4(COQ9):c.359C>T (p.Ala120Val)	COQ9 (A120V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1964406	NM_020312.4(COQ9):c.430G>A (p.Glu144Lys)	COQ9 (E144K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3076335	NM_020312.4(COQ9):c.521+2T>C	COQ9	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1368049	NM_020312.4(COQ9):c.590T>C (p.Ile197Thr)	COQ9 (I197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2281764	NM_020312.4(COQ9):c.654C>A (p.Ser218Arg)	COQ9 (S218R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972574	NM_020312.4(COQ9):c.731G>A (p.Arg244Gln)	COQ9 (R244Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3076336	NM_020312.4(COQ9):c.737T>C (p.Met246Thr)	COQ9 (M246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312457	NM_020312.4(COQ9):c.746C>T (p.Ala249Val)	COQ9 (A249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179469	NM_020312.4(COQ9):c.829G>T (p.Val277Phe)	COQ9 (V277F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230197	NM_020312.4(COQ9):c.867+5G>A	COQ9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2195294	NM_020312.4(COQ9):c.892G>C (p.Val298Leu)	COQ9 (V298L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3076337	NM_020312.4(COQ9):c.938G>A (p.Gly313Asp)	COQ9 (G313D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1487326	NM_020312.4(COQ9):c.950G>A (p.Arg317His)	COQ9 (R317H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 29