ClinVar for Gene (Select 79934) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381279	NM_024876.4(COQ8B):c.1171C>T (p.Arg391Trp)	COQ8B (R350W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377728	NM_024876.4(COQ8B):c.116G>T (p.Gly39Val)	COQ8B (G39V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 3371590	NM_024876.4(COQ8B):c.188G>A (p.Arg63Gln)	COQ8B (R63Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342454	NM_024876.4(COQ8B):c.1448A>G (p.Glu483Gly)	COQ8B (E442G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341058	NM_024876.4(COQ8B):c.933C>T (p.Ala311=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336632	NM_024876.4(COQ8B):c.566G>A (p.Trp189Ter)	COQ8B (W148* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 3268991	NM_024876.4(COQ8B):c.1435T>C (p.Cys479Arg)	COQ8B (C438R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257711	NM_024876.4(COQ8B):c.1156G>A (p.Asp386Asn)	COQ8B (D345N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 3253467	NM_024876.4(COQ8B):c.1324G>A (p.Val442Met)	COQ8B (V401M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3242714	NC_000019.9:g.(?_41211231)_(41217328_?)del	COQ8B	Deletion	not provided	GLikely pathogenic
Select item 3242713	NC_000019.9:g.(?_41205952)_(41211372_?)dup	COQ8B	Duplication	not provided	GLikely pathogenic
Select item 3239349	NM_024876.4(COQ8B):c.990C>T (p.Val330=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234503	NM_024876.4(COQ8B):c.968G>A (p.Gly323Asp)	COQ8B (G282D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064005	NM_024876.4(COQ8B):c.367+1G>A	COQ8B	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3047311	NM_024876.4(COQ8B):c.797C>T (p.Ala266Val)	COQ8B (A225V +1 more)	Single nucleotide variant (missense variant)	COQ8B-related disorder	GUncertain significance
Select item 3047221	NM_024876.4(COQ8B):c.723C>T (p.Pro241=)	COQ8B	Single nucleotide variant (synonymous variant)	COQ8B-related disorder	GLikely benign
Select item 3013173	NM_024876.4(COQ8B):c.577-5C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011706	NM_024876.4(COQ8B):c.799+10C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984295	NM_024876.4(COQ8B):c.367+15C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977223	NM_024876.4(COQ8B):c.368-1G>C	COQ8B	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2977080	NM_024876.4(COQ8B):c.103-13A>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973859	NM_024876.4(COQ8B):c.800-20C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969210	NM_024876.4(COQ8B):c.1144-18A>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957497	NM_024876.4(COQ8B):c.490+16C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920384	NM_024876.4(COQ8B):c.577-8C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897412	NM_024876.4(COQ8B):c.456C>T (p.Ala152=)	COQ8B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891126	NM_024876.4(COQ8B):c.702G>A (p.Val234=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871342	NM_024876.4(COQ8B):c.954G>A (p.Thr318=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850891	NM_024876.4(COQ8B):c.576+10C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782223	NM_024876.4(COQ8B):c.285T>C (p.Phe95=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766205	NM_024876.4(COQ8B):c.1566T>C (p.Ser522=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749437	NM_024876.4(COQ8B):c.1632A>G (p.Ser544=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743157	NM_024876.4(COQ8B):c.546C>T (p.Ser182=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736895	NM_024876.4(COQ8B):c.759C>A (p.Asn253Lys)	COQ8B (N212K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2722385	NM_024876.4(COQ8B):c.1519G>A (p.Ala507Thr)	COQ8B (A466T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2714568	NM_024876.4(COQ8B):c.615C>T (p.Ala205=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688856	NM_024876.4(COQ8B):c.1459G>T (p.Ala487Ser)	COQ8B (A446S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 2681743	NM_024876.4(COQ8B):c.33del (p.Thr12fs)	COQ8B (T12fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 2681742	NM_024876.4(COQ8B):c.1465C>T (p.His489Tyr)	COQ8B (H448Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 2681741	NM_024876.4(COQ8B):c.1297-2A>G	COQ8B	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 2681740	NM_024876.4(COQ8B):c.1468C>T (p.Arg490Cys)	COQ8B (R449C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2628434	NM_024876.4(COQ8B):c.1106A>C (p.Asn369Thr)	COQ8B (N328T +1 more)	Single nucleotide variant (missense variant)	COQ8B-related disorder	GUncertain significance
Select item 2581770	NM_024876.4(COQ8B):c.1504C>T (p.Leu502Phe)	COQ8B (L461F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500589	NM_024876.4(COQ8B):c.62G>A (p.Gly21Asp)	COQ8B (G21D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444313	NM_024876.4(COQ8B):c.271C>T (p.Arg91Cys)	COQ8B (R91C)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GLikely pathogenic
Select item 2444258	NM_024876.4(COQ8B):c.451G>A (p.Gly151Arg)	COQ8B (G151R)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 9	GUncertain significance
Select item 2444099	NM_024876.4(COQ8B):c.853T>C (p.Cys285Arg)	COQ8B (C244R +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 2442656	NM_024876.4(COQ8B):c.316G>A (p.Val106Ile)	COQ8B (V106I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426897	NC_000019.9:g.(?_41114106)_(41201979_?)dup	COQ8B, LTBP4 +1 more	Duplication	not provided	GUncertain significance
Select item 2426896	NC_000019.9:g.(?_41201874)_(41201979_?)del	COQ8B	Deletion	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2417961	NM_024876.4(COQ8B):c.559C>T (p.Pro187Ser)	COQ8B (P146S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199462	NM_024876.4(COQ8B):c.1516dup (p.Ile506fs)	COQ8B (I465fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2197152	NM_024876.4(COQ8B):c.705C>T (p.Ala235=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191016	NM_024876.4(COQ8B):c.1308C>T (p.Asp436=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182174	NM_024876.4(COQ8B):c.800-5C>A	COQ8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2182171	NM_024876.4(COQ8B):c.1404C>T (p.Asp468=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179783	NM_024876.4(COQ8B):c.1315G>A (p.Val439Met)	COQ8B (V439M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179679	NM_024876.4(COQ8B):c.1377G>A (p.Ser459=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178757	NM_024876.4(COQ8B):c.894-3C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2174378	NM_024876.4(COQ8B):c.1413G>A (p.Pro471=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155794	NM_024876.4(COQ8B):c.922C>T (p.Arg308Trp)	COQ8B (R267W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2155246	NM_024876.4(COQ8B):c.560C>T (p.Pro187Leu)	COQ8B (P187L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152808	NM_024876.4(COQ8B):c.1278C>G (p.Leu426=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150411	NM_024876.4(COQ8B):c.934G>A (p.Val312Met)	COQ8B (V271M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138297	NM_024876.4(COQ8B):c.649G>A (p.Ala217Thr)	COQ8B (A217T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116210	NM_024876.4(COQ8B):c.188G>T (p.Arg63Leu)	COQ8B (R63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116020	NM_024876.4(COQ8B):c.1209+18C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115764	NM_024876.4(COQ8B):c.1274T>A (p.Phe425Tyr)	COQ8B (F425Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115013	NM_024876.4(COQ8B):c.368-17G>A	COQ8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110443	NM_024876.4(COQ8B):c.750T>C (p.Asp250=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084305	NM_024876.4(COQ8B):c.158G>T (p.Gly53Val)	COQ8B (G53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082603	NM_024876.4(COQ8B):c.1084C>T (p.Arg362Ter)	COQ8B (R362* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 9 +1 more	GPathogenic/Likely pathogenic
Select item 2071404	NM_024876.4(COQ8B):c.224T>A (p.Leu75Gln)	COQ8B (L75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070820	NM_024876.4(COQ8B):c.800-8C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069455	NM_024876.4(COQ8B):c.724G>A (p.Gly242Ser)	COQ8B (G242S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060268	NM_024876.4(COQ8B):c.1518C>T (p.Ile506=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047735	NM_024876.4(COQ8B):c.324C>G (p.Ala108=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045487	NM_024876.4(COQ8B):c.784G>A (p.Ala262Thr)	COQ8B (A221T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043812	NM_024876.4(COQ8B):c.863G>A (p.Arg288His)	COQ8B (R288H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2023571	NM_024876.4(COQ8B):c.1297-10C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023057	NM_024876.4(COQ8B):c.222+6A>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022420	NM_024876.4(COQ8B):c.492C>T (p.Asp164=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999568	NM_024876.4(COQ8B):c.1431G>T (p.Arg477=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998074	NM_024876.4(COQ8B):c.181A>C (p.Arg61=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990956	NM_024876.4(COQ8B):c.443C>T (p.Thr148Ile)	COQ8B (T148I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987538	NM_024876.4(COQ8B):c.223-23_223-17del	COQ8B	Deletion (intron variant)	not provided	GBenign
Select item 1973361	NM_024876.4(COQ8B):c.718-19C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965142	NM_024876.4(COQ8B):c.1297-9C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964803	NM_024876.4(COQ8B):c.1414_1416dup (p.Val472_Leu473insVal)	COQ8B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1962717	NM_024876.4(COQ8B):c.97C>T (p.Arg33Cys)	COQ8B (R33C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949101	NM_024876.4(COQ8B):c.846T>A (p.Ala282=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943446	NM_024876.4(COQ8B):c.695C>T (p.Thr232Met)	COQ8B (T191M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943088	NM_024876.4(COQ8B):c.799+8G>A	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940044	NM_024876.4(COQ8B):c.1447G>A (p.Glu483Lys)	COQ8B (E483K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939698	NM_024876.4(COQ8B):c.1211T>C (p.Val404Ala)	COQ8B (V404A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938420	NM_024876.4(COQ8B):c.1092G>C (p.Met364Ile)	COQ8B (M364I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932792	NM_024876.4(COQ8B):c.1423C>A (p.Arg475=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928396	NM_024876.4(COQ8B):c.953C>A (p.Thr318Lys)	COQ8B (T277K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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