COQ6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	LOC130056084, LOC130056085 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	LOC130056081, LOC130056082 +23 more	Copy number gain	See cases	GUncertain significance
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 1281820	NM_152445.3(FAM161B):c.54+268_54+272del	COQ6, FAM161B	Deletion (intron variant)	not provided	GBenign
Select item 1256708	NM_152445.3(FAM161B):c.54+76A>G	COQ6, FAM161B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189592	NM_152445.3(FAM161B):c.54+73C>G	COQ6, FAM161B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212854	NM_152445.3(FAM161B):c.54+51C>T	COQ6, FAM161B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182326	NM_152445.3(FAM161B):c.54+30A>C	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1227783	NM_152445.3(FAM161B):c.54+11A>G	FAM161B, COQ6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2458299	NM_152445.3(FAM161B):c.34G>A (p.Gly12Ser)	COQ6, FAM161B (G12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1234053	NM_152445.3(FAM161B):c.32G>C (p.Gly11Ala)	COQ6, FAM161B (G11A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2493397	NM_152445.3(FAM161B):c.1A>G (p.Met1Val)	COQ6, FAM161B (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 517856	NM_152445.3(FAM161B):c.-38_-27dup	COQ6, FAM161B	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 2374766	NM_152445.3(FAM161B):c.-36C>A	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2287487	NM_152445.3(FAM161B):c.-47G>A	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 136984	NM_152445.3(FAM161B):c.-53A>C	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2551934	NM_152445.2(FAM161B):c.121C>T (p.His41Tyr)	COQ6, FAM161B (H41Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091936	NM_152445.2(FAM161B):c.103G>C (p.Gly35Arg)	COQ6, FAM161B (G35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 136985	NM_001425258.1(COQ6):c.37G>T (p.Val13Phe)	COQ6 (V13F +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 136986	NM_182480.3(COQ6):c.41G>A (p.Trp14Ter)	COQ6 (W14* +1 more)	Single nucleotide variant (missense variant +1 more)	COQ6-related disorder +2 more	GBenign
Select item 1263088	NM_001425258.1(COQ6):c.62C>T (p.Ser21Phe)	COQ6 (S21F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1187588	NM_182480.3(COQ6):c.69A>G (p.Pro23=)	COQ6 (W19R)	Single nucleotide variant (missense variant +1 more)	COQ6-related disorder +1 more	GLikely benign
Select item 1270564	NM_152445.2(FAM161B):c.-19C>G	COQ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291437	NM_152445.2(FAM161B):c.-27C>G	COQ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136987	NM_182476.2(COQ6):c.-40G>T	COQ6	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1804270	NM_182476.3(COQ6):c.5C>A (p.Ala2Glu)	COQ6 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388573	NM_182476.3(COQ6):c.5C>T (p.Ala2Val)	COQ6 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1955911	NM_182476.3(COQ6):c.10C>A (p.Arg4=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2568942	NM_182476.3(COQ6):c.11G>C (p.Arg4Pro)	COQ6 (R4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2180133	NM_182476.3(COQ6):c.12G>C (p.Arg4=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2914882	NM_182476.3(COQ6):c.22C>A (p.Arg8=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1473195	NM_182476.3(COQ6):c.24A>G (p.Arg8=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824626	NM_182476.3(COQ6):c.27C>T (p.Cys9=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916648	NM_182476.3(COQ6):c.30G>A (p.Gly10=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3076329	NM_182476.3(COQ6):c.31G>A (p.Ala11Thr)	COQ6 (A11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1462122	NM_182476.3(COQ6):c.32C>T (p.Ala11Val)	COQ6 (A11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 982722	NM_182476.3(COQ6):c.37C>T (p.Arg13Cys)	COQ6 (R13C)	Single nucleotide variant (missense variant +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GUncertain significance
Select item 2848277	NM_182476.3(COQ6):c.41C>G (p.Ala14Gly)	COQ6 (A14G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1716062	NM_182476.3(COQ6):c.41C>T (p.Ala14Val)	COQ6 (A14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615107	NM_182476.3(COQ6):c.42A>G (p.Ala14=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798036	NM_182476.3(COQ6):c.63G>C (p.Leu21=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986632	NM_182476.3(COQ6):c.94A>G (p.Thr32Ala)	COQ6 (T32A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020674	NM_182476.3(COQ6):c.100_101del (p.Thr34fs)	COQ6 (T34fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1630748	NM_182476.3(COQ6):c.102C>G (p.Thr34=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1946708	NM_182476.3(COQ6):c.107A>G (p.Tyr36Cys)	COQ6 (Y36C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214236	NM_182476.3(COQ6):c.115G>A (p.Val39Met)	COQ6 (V39M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787625	NM_182476.3(COQ6):c.129A>T (p.Gly43=)	COQ6 (E8V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 751735	NM_182476.3(COQ6):c.132C>G (p.Gly44=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 681456	NM_182476.3(COQ6):c.133C>T (p.Leu45=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 591881	NM_182476.3(COQ6):c.142_143dup (p.Ala49fs)	COQ6 (A49fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1987343	NM_182476.3(COQ6):c.141C>T (p.Gly47=)	COQ6	Single nucleotide variant (synonymous variant +1 more)	COQ6-related disorder +1 more	GLikely benign
Select item 214231	NM_182476.3(COQ6):c.145G>T (p.Ala49Ser)	COQ6 (A49S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1303239	NM_182476.3(COQ6):c.157G>A (p.Ala53Thr)	COQ6 (A53T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 136981	NM_182476.3(COQ6):c.163+11C>T	COQ6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1568475	NM_182476.3(COQ6):c.163+12T>C	COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190854	NM_182476.3(COQ6):c.163+290T>C	COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683565	NM_182476.3(COQ6):c.164-313G>A	COQ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250217	NM_182476.3(COQ6):c.164-29T>G	COQ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1928009	NM_182476.3(COQ6):c.164-23_164-16del	COQ6	Deletion (intron variant)	not provided	GUncertain significance
Select item 235772	NM_182476.3(COQ6):c.164-12dup	COQ6	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1967184	NM_182476.3(COQ6):c.164-11_164-10delinsTA	COQ6	Indel (intron variant)	not provided	GUncertain significance
Select item 1225685	NM_182476.3(COQ6):c.164-11del	COQ6	Deletion (intron variant)	COQ6-related disorder +1 more	GBenign/Likely benign
Select item 136983	NM_182476.3(COQ6):c.164-11C>T	COQ6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1938312	NM_182476.3(COQ6):c.164-4T>C	COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922981	NM_182476.3(COQ6):c.164-4T>A	COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2305972	NM_182476.3(COQ6):c.167A>G (p.Tyr56Cys)	COQ6 (Y31C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3003305	NM_182476.3(COQ6):c.171T>C (p.Asp57=)	COQ6 (I2T +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600384	NM_182476.3(COQ6):c.180T>C (p.Phe60=)	COQ6	Single nucleotide variant (synonymous variant)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GBenign/Likely benign
Select item 1409264	NM_182476.3(COQ6):c.181C>T (p.His61Tyr)	COQ6 (H61Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992499	NM_182476.3(COQ6):c.189_191del (p.Lys64del)	COQ6 (K39del +1 more)	Deletion (inframe_deletion)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GLikely pathogenic
Select item 2079521	NM_182476.3(COQ6):c.201G>C (p.Leu67Phe)	COQ6 (L42F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390073	NM_182476.3(COQ6):c.204C>T (p.Leu68=)	COQ6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2161327	NM_182476.3(COQ6):c.205G>A (p.Glu69Lys)	COQ6 (E44K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135947	NM_182476.3(COQ6):c.207A>G (p.Glu69=)	COQ6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128619	NM_182476.3(COQ6):c.228G>T (p.Leu76=)	COQ6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128621	NM_182476.3(COQ6):c.247del (p.Tyr83fs)	COQ6 (Y58fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2977155	NM_182476.3(COQ6):c.248dup (p.Tyr83Ter)	COQ6 (Y83* +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2130794	NM_182476.3(COQ6):c.252C>T (p.Ser84=)	COQ6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982464	NM_182476.3(COQ6):c.268A>G (p.Ile90Val)	COQ6 (I65V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921692	NM_182476.3(COQ6):c.277G>T (p.Gly93Cys)	COQ6 (G68C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559143	NM_182476.3(COQ6):c.278G>A (p.Gly93Asp)	COQ6 (G68D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1908517	NM_182476.3(COQ6):c.288G>A (p.Thr96=)	COQ6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516201	NM_182476.3(COQ6):c.298+2T>C	COQ6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2090654	NM_182476.3(COQ6):c.298+10A>T	COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785556	NM_182476.3(COQ6):c.298+20T>C	COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670021	NM_182476.3(COQ6):c.298+168C>A	COQ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268210	NM_182476.3(COQ6):c.298+256_298+258del	COQ6	Microsatellite (intron variant)	not provided	GBenign
Select item 2808255	NM_182476.3(COQ6):c.299-13del	COQ6, ENTPD5	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1956090	NM_182476.3(COQ6):c.332G>A (p.Arg111Lys)	COQ6, ENTPD5 (R111K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416161	NM_182476.3(COQ6):c.346C>T (p.Arg116Trp)	COQ6, ENTPD5 (R91W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679762	NM_182476.3(COQ6):c.349C>T (p.Arg117Ter)	COQ6, ENTPD5 (R117* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2615749	NM_182476.3(COQ6):c.350G>A (p.Arg117Gln)	COQ6, ENTPD5 (R92Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 830036	NM_182476.3(COQ6):c.357G>C (p.Gln119His)	COQ6, ENTPD5 (Q119H +2 more)	Single nucleotide variant (missense variant +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GUncertain significance
Select item 2158096	NM_182476.3(COQ6):c.357+7del	ENTPD5, COQ6	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1931638	NM_182476.3(COQ6):c.357+15T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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