Related gene-specific medical variations for Gene (Select 51117) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2894348	NM_016035.5(COQ4):c.142C>T (p.Gln48Ter)	COQ4, LOC130002704 (Q48*)	Single nucleotide variant (nonsense)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic
Select item 2711454	NM_016035.5(COQ4):c.153G>A (p.Leu51=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2440516	NM_016035.5(COQ4):c.794C>T (p.Ala265Val)	COQ4 (A265V)	Single nucleotide variant (3 prime UTR variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2429966	NM_016035.5(COQ4):c.230C>T (p.Thr77Ile)	COQ4 (T77I)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GLikely pathogenic
Select item 2196756	NM_016035.5(COQ4):c.180G>A (p.Ala60=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2139543	NM_016035.5(COQ4):c.134C>G (p.Ser45Cys)	COQ4, LOC130002704 (S45C)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2048795	NM_016035.5(COQ4):c.132C>G (p.Thr44=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 1354567	NM_016035.5(COQ4):c.137C>G (p.Pro46Arg)	COQ4, LOC130002704 (P46R)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1167959	NM_016035.5(COQ4):c.149G>C (p.Gly50Ala)	COQ4, LOC130002704 (G50A)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GBenign
Select item 792420	NM_016035.5(COQ4):c.126C>T (p.Leu42=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 730772	NM_016035.5(COQ4):c.151C>T (p.Leu51=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 651003	NM_016035.5(COQ4):c.134C>T (p.Ser45Phe)	COQ4, LOC130002704 (S45F)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GUncertain significance
Select item 572296	NM_016035.5(COQ4):c.144G>T (p.Gln48His)	COQ4, LOC130002704 (Q48H)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 417816	NM_016035.5(COQ4):c.331G>T (p.Asp111Tyr)	COQ4 (D111Y)	Single nucleotide variant (synonymous variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 389184	NM_016035.5(COQ4):c.168C>T (p.Ser56=)	LOC130002704, COQ4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 382416	NM_016035.5(COQ4):c.149= (p.Gly50=)	COQ4, LOC130002704	Single nucleotide variant (no sequence alteration)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GBenign/Likely benign
Select item 189202	NM_016035.5(COQ4):c.155T>C (p.Leu52Ser)	COQ4, LOC130002704 (L52S)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic