Related gene-specific medical variations for Gene (Select 51004) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076330	NM_182476.3(COQ6):c.434A>G (p.Asn145Ser)	ENTPD5, COQ6 (N120S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076327	NM_182476.3(COQ6):c.1075C>A (p.Pro359Thr)	COQ6, ENTPD5 (P334T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3044108	NM_182476.3(COQ6):c.951T>C (p.Ala317=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	COQ6-related disorder	GLikely benign
Select item 3021356	NM_182476.3(COQ6):c.980C>T (p.Ser327Leu)	ENTPD5, COQ6 (S327L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3006950	NM_182476.3(COQ6):c.1211-9G>A	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992442	NM_182476.3(COQ6):c.549C>T (p.Ala183=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2989109	NM_182476.3(COQ6):c.720+1G>T	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2977396	NM_182476.3(COQ6):c.721-17T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2976457	NM_182476.3(COQ6):c.1094+13del	COQ6, ENTPD5	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2966230	NM_182476.3(COQ6):c.1278T>C (p.Ala426=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965321	NM_182476.3(COQ6):c.1297C>T (p.Leu433Phe)	COQ6, ENTPD5 (L408F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963583	NM_182476.3(COQ6):c.610T>C (p.Leu204=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2961425	NM_182476.3(COQ6):c.1095-19A>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2886039	NM_182476.3(COQ6):c.1251G>A (p.Gln417=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2846417	NM_182476.3(COQ6):c.1227C>A (p.Leu409=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843946	NM_182476.3(COQ6):c.1225C>T (p.Leu409Phe)	COQ6, ENTPD5 (L409F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834878	NM_182476.3(COQ6):c.456del (p.Thr153fs)	ENTPD5, COQ6 (T128fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2831702	NM_182476.3(COQ6):c.638G>C (p.Gly213Ala)	COQ6, ENTPD5 (G213A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2825815	NM_182476.3(COQ6):c.1210+13_1210+25del	COQ6, ENTPD5	Deletion (intron variant)	not provided	GLikely benign
Select item 2820018	NM_182476.3(COQ6):c.1378-12T>C	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2796107	NM_182476.3(COQ6):c.1122T>G (p.Leu374=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2788464	NM_182476.3(COQ6):c.721-20T>G	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2753873	NM_182476.3(COQ6):c.933T>C (p.Gly311=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2722116	NM_182476.3(COQ6):c.413A>G (p.Asp138Gly)	ENTPD5, COQ6 (D113G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2703796	NM_182476.3(COQ6):c.358-11T>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2644365	NM_182476.3(COQ6):c.741C>T (p.Ala247=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644364	NM_182476.3(COQ6):c.591C>T (p.Ser197=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2615749	NM_182476.3(COQ6):c.350G>A (p.Arg117Gln)	COQ6, ENTPD5 (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605591	NM_182476.3(COQ6):c.485G>T (p.Arg162Leu)	COQ6, ENTPD5 (R137L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2602219	NM_182476.3(COQ6):c.1065G>A (p.Glu355=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2582498	NM_182476.3(COQ6):c.644G>T (p.Arg215Leu)	COQ6, ENTPD5 (R190L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GUncertain significance
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 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 2442539	NM_182476.3(COQ6):c.427G>A (p.Val143Met)	COQ6, ENTPD5 (V118M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442419	NM_182476.3(COQ6):c.1028G>A (p.Arg343Gln)	COQ6, ENTPD5 (R318Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2419735	NM_182476.3(COQ6):c.1094+7C>T	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2418583	NM_182476.3(COQ6):c.1091T>C (p.Ile364Thr)	COQ6, ENTPD5 (I339T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2303682	NM_182476.3(COQ6):c.994C>A (p.Pro332Thr)	COQ6, ENTPD5 (P307T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298250	NM_182476.3(COQ6):c.1378-5T>C	COQ6, ENTPD5	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 2277947	NM_182476.3(COQ6):c.546G>A (p.Met182Ile)	COQ6, ENTPD5 (M157I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2246476	NM_182476.3(COQ6):c.1204G>A (p.Asp402Asn)	COQ6, ENTPD5 (D377N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242192	NM_182476.3(COQ6):c.955A>C (p.Ser319Arg)	COQ6, ENTPD5 (S294R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2242191	NM_182476.3(COQ6):c.952G>T (p.Val318Phe)	COQ6, ENTPD5 (V293F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226508	NM_182476.3(COQ6):c.550G>A (p.Asp184Asn)	COQ6, ENTPD5 (D159N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2185643	NM_182476.3(COQ6):c.1000A>G (p.Ser334Gly)	COQ6, ENTPD5 (S309G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2178734	NM_182476.3(COQ6):c.632A>G (p.Asn211Ser)	COQ6, ENTPD5 (N186S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2132876	NM_182476.3(COQ6):c.919A>G (p.Ile307Val)	ENTPD5, COQ6 (I307V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2129427	NM_182476.3(COQ6):c.868G>T (p.Val290Leu)	COQ6, ENTPD5 (V290L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2118560	NM_182476.3(COQ6):c.422A>G (p.Tyr141Cys)	COQ6, ENTPD5 (Y141C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117238	NM_182476.3(COQ6):c.482-5C>G	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2110559	NM_182476.3(COQ6):c.454C>G (p.Leu152Val)	COQ6, ENTPD5 (L152V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095093	NM_182476.3(COQ6):c.912G>A (p.Thr304=)	ENTPD5, COQ6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2094026	NM_182476.3(COQ6):c.588C>T (p.Gly196=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2077072	NM_182476.3(COQ6):c.1079G>A (p.Arg360Gln)	ENTPD5, COQ6 (R335Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2049324	NM_182476.3(COQ6):c.655G>A (p.Gly219Arg)	COQ6, ENTPD5 (G219R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2038545	NM_182476.3(COQ6):c.1377+7G>A	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024995	NM_182476.3(COQ6):c.481+7C>G	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023537	NM_182476.3(COQ6):c.689C>G (p.Ser230Cys)	COQ6, ENTPD5 (S230C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2023267	NM_182476.3(COQ6):c.1377+10T>C	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020962	NM_182476.3(COQ6):c.720+16G>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2019965	NM_182476.3(COQ6):c.720+5G>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2002134	NM_182476.3(COQ6):c.537A>G (p.Pro179=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1998964	NM_182476.3(COQ6):c.859del (p.Glu287fs)	COQ6, ENTPD5 (E287fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1998647	NM_182476.3(COQ6):c.1381C>T (p.Gln461Ter)	COQ6, ENTPD5 (Q461* +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1991717	NM_182476.3(COQ6):c.762T>G (p.Ser254=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1987524	NM_182476.3(COQ6):c.1109G>A (p.Arg370Lys)	ENTPD5, COQ6 (R345K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1986312	NM_182476.3(COQ6):c.636C>T (p.Ser212=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1982692	NM_182476.3(COQ6):c.1319C>T (p.Pro440Leu)	COQ6, ENTPD5 (P415L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979281	NM_182476.3(COQ6):c.1355C>T (p.Thr452Ile)	COQ6, ENTPD5 (T427I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976847	NM_182476.3(COQ6):c.1129C>G (p.Gln377Glu)	COQ6, ENTPD5 (Q377E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1972428	NM_182476.3(COQ6):c.485G>A (p.Arg162Gln)	ENTPD5, COQ6 (R137Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1971050	NM_182476.3(COQ6):c.482-8C>T	ENTPD5, COQ6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1961550	NM_182476.3(COQ6):c.481+14del	COQ6, ENTPD5	Deletion (intron variant)	not provided	GLikely benign
Select item 1959250	NM_182476.3(COQ6):c.720+15T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1958946	NM_182476.3(COQ6):c.1381C>G (p.Gln461Glu)	COQ6, ENTPD5 (Q461E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956619	NM_182476.3(COQ6):c.1094+11A>T	COQ6, ENTPD5	Single nucleotide variant (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 +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1955192	NM_182476.3(COQ6):c.1211-6del	COQ6, ENTPD5	Deletion (intron variant)	not provided	GLikely benign
Select item 1953350	NM_182476.3(COQ6):c.609G>C (p.Leu203Phe)	COQ6, ENTPD5 (L203F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1944640	NM_182476.3(COQ6):c.1210+18A>G	ENTPD5, COQ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940436	NM_182476.3(COQ6):c.524C>T (p.Thr175Ile)	COQ6, ENTPD5 (T150I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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
Select item 1928701	NM_182476.3(COQ6):c.1211-3C>T	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1926357	NM_182476.3(COQ6):c.1369C>T (p.Pro457Ser)	COQ6, ENTPD5 (P432S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922320	NM_182476.3(COQ6):c.1094+10T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1918198	NM_182476.3(COQ6):c.1239A>C (p.Glu413Asp)	COQ6, ENTPD5 (E413D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1914127	NM_182476.3(COQ6):c.876C>T (p.Ala292=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1912792	NM_182476.3(COQ6):c.1222C>T (p.His408Tyr)	COQ6, ENTPD5 (H383Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910106	NM_182476.3(COQ6):c.1196A>G (p.Asn399Ser)	COQ6, ENTPD5 (N374S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910067	NM_182476.3(COQ6):c.1095-13G>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1909204	NM_182476.3(COQ6):c.1111G>A (p.Val371Ile)	COQ6, ENTPD5 (V346I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1908008	NM_182476.3(COQ6):c.783G>A (p.Pro261=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1904735	NM_182476.3(COQ6):c.1069G>A (p.Val357Ile)	COQ6, ENTPD5 (V332I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1897763	NM_182476.3(COQ6):c.1094+10T>A	ENTPD5, COQ6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1715611	NM_182476.3(COQ6):c.1310G>C (p.Ser437Thr)	COQ6, ENTPD5 (S412T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715036	NM_182476.3(COQ6):c.497T>C (p.Leu166Pro)	COQ6, ENTPD5 (L141P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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