Related gene-specific medical variations for Gene (Select 112997540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069111	NM_001358921.2(COQ2):c.146C>A (p.Pro49His)	COQ2, LOC112997540 (P49H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032732	NM_001358921.2(COQ2):c.99T>A (p.Arg33=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	COQ2-related condition	GLikely benign
Select item 3004759	NM_001358921.2(COQ2):c.183G>T (p.Ala61=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000912	NM_001358921.2(COQ2):c.9C>T (p.Gly3=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995148	NM_015697.9(COQ2):c.84G>A (p.Ala28=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979351	NM_015697.9(COQ2):c.60T>C (p.Pro20=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979178	NM_001358921.2(COQ2):c.201G>A (p.Ala67=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979175	NM_015697.9(COQ2):c.108G>A (p.Arg36=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976792	NM_015697.9(COQ2):c.81T>G (p.Pro27=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976003	NM_015697.9(COQ2):c.48C>A (p.Thr16=)	LOC112997540, COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879736	NM_001358921.2(COQ2):c.-22T>G	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2869954	NM_001358921.2(COQ2):c.97C>T (p.Arg33Cys)	COQ2, LOC112997540 (R33C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868433	NM_001358921.2(COQ2):c.211C>T (p.Leu71=)	LOC112997540, COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833721	NM_001358921.2(COQ2):c.253+9G>C	LOC112997540, COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815285	NM_001358921.2(COQ2):c.216G>A (p.Gln72=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806725	NM_001358921.2(COQ2):c.211del (p.Leu71fs)	COQ2, LOC112997540 (L71fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2798053	NM_001358921.2(COQ2):c.253+10G>C	COQ2, LOC112997540	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768174	NM_001358921.2(COQ2):c.201G>T (p.Ala67=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671934	NM_015697.9(COQ2):c.-4C>T	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant)	Multiple system atrophy 1, susceptibility to	GUncertain significance
Select item 2633919	NM_001358921.2(COQ2):c.2T>C (p.Met1Thr)	COQ2, LOC112997540 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	COQ2-related condition	GUncertain significance
Select item 2440515	NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)	COQ2, LOC112997540 (P20S)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 2439498	NM_001358921.2(COQ2):c.-27C>T	COQ2, LOC112997540 (R42*)	Single nucleotide variant (5 prime UTR variant +1 more)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
Select item 2420658	NM_001358921.2(COQ2):c.18C>T (p.Ala6=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414927	NM_001358921.2(COQ2):c.109G>A (p.Ala37Thr)	COQ2, LOC112997540 (A37T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340622	NM_015697.9(COQ2):c.27G>C (p.Met9Ile)	COQ2, LOC112997540 (M9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299966	NM_001358921.2(COQ2):c.229C>T (p.Leu77Phe)	COQ2, LOC112997540 (L127F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231832	NM_015697.9(COQ2):c.49G>A (p.Ala17Thr)	COQ2, LOC112997540 (A17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203552	NM_015697.9(COQ2):c.96G>A (p.Ala32=)	LOC112997540, COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196542	NM_001358921.2(COQ2):c.-26G>C	LOC112997540, COQ2 (R42P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2181563	NM_001358921.2(COQ2):c.206G>A (p.Arg69His)	COQ2, LOC112997540 (R119H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178277	NM_001358921.2(COQ2):c.233T>C (p.Met78Thr)	COQ2, LOC112997540 (M128T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153382	NM_001358921.2(COQ2):c.145C>G (p.Pro49Ala)	COQ2, LOC112997540 (P49A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146523	NM_001358921.2(COQ2):c.208C>T (p.Pro70Ser)	COQ2, LOC112997540 (P120S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135132	NM_001358921.2(COQ2):c.249C>T (p.Pro83=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128112	NM_001358921.2(COQ2):c.-25A>G	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2116026	NM_001358921.2(COQ2):c.24G>T (p.Gly8=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101201	NM_001358921.2(COQ2):c.185C>T (p.Ala62Val)	COQ2, LOC112997540 (A62V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2077047	NM_001358921.2(COQ2):c.104C>G (p.Ala35Gly)	COQ2, LOC112997540 (A35G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059941	NM_001358921.2(COQ2):c.184_185delinsTT (p.Ala62Leu)	COQ2, LOC112997540 (A112L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2058764	NM_001358921.2(COQ2):c.227G>T (p.Arg76Leu)	COQ2, LOC112997540 (R126L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058432	NM_001358921.2(COQ2):c.-30A>G	COQ2, LOC112997540 (I41V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2047411	NM_015697.9(COQ2):c.62G>T (p.Gly21Val)	COQ2, LOC112997540 (G21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038760	NM_001358921.2(COQ2):c.-23C>T	COQ2, LOC112997540 (A43V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2023404	NM_015697.9(COQ2):c.106C>A (p.Arg36=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022845	NM_001358921.2(COQ2):c.253+1G>A	COQ2, LOC112997540	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2020942	NM_001358921.2(COQ2):c.195C>T (p.Asp65=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004290	NM_015697.9(COQ2):c.98A>T (p.His33Leu)	COQ2, LOC112997540 (H33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992779	NM_001358921.2(COQ2):c.133C>A (p.Pro45Thr)	COQ2, LOC112997540 (P45T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991422	NM_001358921.2(COQ2):c.-33T>C	COQ2, LOC112997540 (S40P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1985863	NM_015697.9(COQ2):c.27G>A (p.Met9Ile)	COQ2, LOC112997540 (M9I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974731	NM_001358921.2(COQ2):c.158G>A (p.Gly53Glu)	COQ2, LOC112997540 (G53E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967601	NM_001358921.2(COQ2):c.228C>T (p.Arg76=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965745	NM_001358921.2(COQ2):c.235C>A (p.Arg79=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959877	NM_015697.9(COQ2):c.8dup (p.Ile4fs)	COQ2, LOC112997540 (I4fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1958388	NM_001358921.2(COQ2):c.-31_-21del	COQ2, LOC112997540 (I41fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1957360	NM_001358921.2(COQ2):c.253+6T>A	COQ2, LOC112997540	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1951212	NM_001358921.2(COQ2):c.56C>T (p.Ala19Val)	COQ2, LOC112997540 (A19V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947201	NM_001358921.2(COQ2):c.188TGG[3] (p.Val64_Asp65insVal)	COQ2, LOC112997540	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1947196	NM_001358921.2(COQ2):c.74G>A (p.Arg25Gln)	COQ2, LOC112997540 (R25Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947047	NM_001358921.2(COQ2):c.-7C>T	COQ2, LOC112997540	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944613	NM_015697.9(COQ2):c.11T>C (p.Ile4Thr)	COQ2, LOC112997540 (I4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944338	NM_001358921.2(COQ2):c.102G>T (p.Ala34=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943361	NM_001358921.2(COQ2):c.102G>C (p.Ala34=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938038	NM_001358921.2(COQ2):c.161G>A (p.Arg54His)	COQ2, LOC112997540 (R104H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937718	NM_001358921.2(COQ2):c.27C>T (p.Phe9=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	COQ2-related condition +1 more	GLikely benign
Select item 1934045	NM_001358921.2(COQ2):c.-4C>A	COQ2, LOC112997540 (S49R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1928520	NM_001358921.2(COQ2):c.148G>A (p.Glu50Lys)	COQ2, LOC112997540 (E50K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928061	NM_001358921.2(COQ2):c.84C>T (p.Ser28=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918597	NM_015697.9(COQ2):c.36T>C (p.Gly12=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916868	NM_001358921.2(COQ2):c.110C>T (p.Ala37Val)	COQ2, LOC112997540 (A37V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1909405	NM_001358921.2(COQ2):c.-12C>T	COQ2, LOC112997540 (L47F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1904420	NM_015697.9(COQ2):c.107G>A (p.Arg36Gln)	LOC112997540, COQ2 (R36Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1903476	NM_015697.9(COQ2):c.101C>T (p.Ala34Val)	COQ2, LOC112997540 (A34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900531	NM_001358921.2(COQ2):c.219G>T (p.Pro73=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1900266	NM_015697.9(COQ2):c.31A>G (p.Lys11Glu)	COQ2, LOC112997540 (K11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899042	NM_001358921.2(COQ2):c.-16C>A	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1698355	NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)	COQ2, LOC112997540 (W24* +1 more)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely pathogenic
Select item 1698040	NM_001358921.2(COQ2):c.165G>C (p.Gln55His)	COQ2, LOC112997540 (Q105H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1695503	NM_015697.9(COQ2):c.34G>C (p.Gly12Arg)	COQ2, LOC112997540 (G12R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1650233	NM_001358921.2(COQ2):c.222C>T (p.Tyr74=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603273	NM_001358921.2(COQ2):c.238T>C (p.Leu80=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534928	NM_001358921.2(COQ2):c.171T>C (p.Ser57=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512350	NM_001358921.2(COQ2):c.86T>G (p.Phe29Cys)	COQ2, LOC112997540 (F79C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511523	NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp)	COQ2, LOC112997540 (S4W +1 more)	Single nucleotide variant (missense variant)	Multiple system atrophy 1, susceptibility to +2 more	GUncertain significance
Select item 1510650	NM_001358921.2(COQ2):c.89C>T (p.Ala30Val)	COQ2, LOC112997540 (A80V +1 more)	Single nucleotide variant (missense variant)	Multiple system atrophy 1, susceptibility to +3 more	GUncertain significance
Select item 1484996	NM_001358921.2(COQ2):c.182C>T (p.Ala61Val)	COQ2, LOC112997540 (A111V +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1443095	NM_015697.9(COQ2):c.65G>A (p.Arg22Lys)	COQ2, LOC112997540 (R22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438750	NM_001358921.2(COQ2):c.-2C>G	COQ2, LOC112997540 (A50G)	Single nucleotide variant (5 prime UTR variant +1 more)	Coenzyme Q10 deficiency, primary, 1 +3 more	GUncertain significance
Select item 1413189	NM_001358921.2(COQ2):c.20C>T (p.Ala7Val)	COQ2, LOC112997540 (A57V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394863	NM_015697.9(COQ2):c.34G>A (p.Gly12Ser)	COQ2, LOC112997540 (G12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390570	NM_001358921.2(COQ2):c.188T>C (p.Val63Ala)	COQ2, LOC112997540 (V113A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381926	NM_015697.9(COQ2):c.94G>A (p.Ala32Thr)	COQ2, LOC112997540 (A32T)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1380545	NM_001358921.2(COQ2):c.133C>T (p.Pro45Ser)	COQ2, LOC112997540 (P45S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376915	NM_001358921.2(COQ2):c.17C>T (p.Ala6Val)	COQ2, LOC112997540 (A6V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366236	NM_015697.9(COQ2):c.61G>A (p.Gly21Ser)	COQ2, LOC112997540 (G21S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1365653	NM_001358921.2(COQ2):c.-17C>T	COQ2, LOC112997540 (P45L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1358438	NM_015697.9(COQ2):c.83C>A (p.Ala28Glu)	LOC112997540, COQ2 (A28E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1357524	NM_015697.9(COQ2):c.57G>T (p.Gln19His)	COQ2, LOC112997540 (Q19H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1344670	NM_001358921.2(COQ2):c.26dup (p.Ala10fs)	COQ2, LOC112997540 (A10fs +1 more)	Duplication (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1319748	NM_015697.9(COQ2):c.103T>G (p.Cys35Gly)	COQ2, LOC112997540 (C35G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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