Related gene-specific medical variations for Gene (Select 57017) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361533	NM_020312.4(COQ9):c.938del (p.Gly313fs)	COQ9 (G313fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3357406	NM_020312.4(COQ9):c.-9G>C	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	COQ9-related disorder	GLikely benign
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 3009213	NM_020312.4(COQ9):c.12G>T (p.Ala4=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430700	NM_020312.4(COQ9):c.14C>A (p.Ala5Glu)	COQ9, LOC112469007 (A5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420690	NM_020312.4(COQ9):c.51C>T (p.Leu17=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2002912	NM_020312.4(COQ9):c.71C>A (p.Pro24His)	COQ9, LOC112469007 (P24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963668	NM_020312.4(COQ9):c.27G>A (p.Ala9=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1944104	NM_020312.4(COQ9):c.17T>C (p.Val6Ala)	COQ9, LOC112469007 (V6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943986	NM_020312.4(COQ9):c.48G>A (p.Arg16=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939047	NM_020312.4(COQ9):c.55C>G (p.Gln19Glu)	COQ9, LOC112469007 (Q19E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934837	NM_020312.4(COQ9):c.9G>A (p.Ala3=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1561001	NM_020312.4(COQ9):c.33C>T (p.Gly11=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1499705	NM_020312.4(COQ9):c.38C>G (p.Ala13Gly)	COQ9, LOC112469007 (A13G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481812	NM_020312.4(COQ9):c.71_72delinsAT (p.Pro24His)	COQ9, LOC112469007 (P24H)	Indel (missense variant)	not provided	GUncertain significance
Select item 1465844	NM_020312.4(COQ9):c.5C>T (p.Ala2Val)	COQ9, LOC112469007 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438927	NM_020312.4(COQ9):c.5CGG[5] (p.Ala5dup)	COQ9, LOC112469007	Microsatellite (inframe_insertion +1 more)	not provided	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 1369063	NM_020312.4(COQ9):c.37G>A (p.Ala13Thr)	COQ9, LOC112469007 (A13T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1366162	NM_020312.4(COQ9):c.38C>T (p.Ala13Val)	COQ9, LOC112469007 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1324161	NM_020312.4(COQ9):c.74-2A>G	COQ9	Single nucleotide variant (splice acceptor variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GLikely pathogenic
Select item 1311636	NM_020312.4(COQ9):c.25G>C (p.Ala9Pro)	COQ9, LOC112469007 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027680	NM_020312.4(COQ9):c.73G>A (p.Val25Met)	COQ9, LOC112469007 (V25M)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 887925	NM_020312.4(COQ9):c.71C>T (p.Pro24Leu)	COQ9, LOC112469007 (P24L)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GConflicting classifications of pathogenicity
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 886670	NM_020312.4(COQ9):c.-27G>C	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 682119	NM_020312.4(COQ9):c.72C>T (p.Pro24=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591057	NM_020312.4(COQ9):c.5_7delinsTGA (p.Ala2_Ala3delinsValThr)	COQ9, LOC112469007	Indel (missense variant)	not provided	GUncertain significance
Select item 514786	NM_020312.4(COQ9):c.-18G>C	LOC112469007, COQ9	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509392	NM_020312.4(COQ9):c.18A>G (p.Val6=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 391794	NM_020312.4(COQ9):c.26C>T (p.Ala9Val)	COQ9, LOC112469007 (A9V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 382280	NM_020312.4(COQ9):c.-18G>A	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 320004	NM_020312.4(COQ9):c.73+9del	COQ9, LOC112469007	Deletion (intron variant)	Coenzyme Q10 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 320003	NM_020312.4(COQ9):c.-25C>T	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 320002	NM_020312.4(COQ9):c.-25C>G	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 214242	NM_020312.4(COQ9):c.34C>G (p.Arg12Gly)	LOC112469007, COQ9 (R12G)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Links from Gene

Items: 41