19041[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1191628	NM_024876.4(COQ8B):c.*174C>T	COQ8B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1198823	NM_024876.4(COQ8B):c.*137G>A	COQ8B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 385429	NM_024876.4(COQ8B):c.*10T>C	COQ8B	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 9 +1 more	GBenign/Likely 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 1903379	NM_024876.4(COQ8B):c.1583C>G (p.Ala528Gly)	COQ8B (A528G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897048	NM_024876.4(COQ8B):c.1579G>A (p.Ala527Thr)	COQ8B (A486T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 380448	NM_024876.4(COQ8B):c.1578C>T (p.Asp526=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2766205	NM_024876.4(COQ8B):c.1566T>C (p.Ser522=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521659	NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter)	COQ8B (W520* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 9 +3 more	GConflicting classifications of pathogenicity
Select item 1028349	NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys)	COQ8B (R518C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2060268	NM_024876.4(COQ8B):c.1518C>T (p.Ile506=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199462	NM_024876.4(COQ8B):c.1516dup (p.Ile506fs)	COQ8B (I465fs +1 more)	Duplication (frameshift variant)	not provided	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 1922624	NM_024876.4(COQ8B):c.1488C>T (p.Phe496=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 91847	NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter)	COQ8B (E483* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 9	GPathogenic/Likely 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 1999568	NM_024876.4(COQ8B):c.1431G>T (p.Arg477=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 375337	NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln)	COQ8B (R477Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1913701	NM_024876.4(COQ8B):c.1424G>A (p.Arg475Gln)	COQ8B (R434Q +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 743304	NM_024876.4(COQ8B):c.1419G>A (p.Leu473=)	COQ8B	Single nucleotide variant (synonymous 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 2174378	NM_024876.4(COQ8B):c.1413G>A (p.Pro471=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182171	NM_024876.4(COQ8B):c.1404C>T (p.Asp468=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031412	NM_024876.4(COQ8B):c.1391G>A (p.Arg464His)	COQ8B (R423H +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	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 382053	NM_024876.4(COQ8B):c.1365T>C (p.Tyr455=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 559232	NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)	COQ8B (Y455C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 91851	NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs)	COQ8B (Q452fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome, type 9	GPathogenic/Likely pathogenic
Select item 516780	NM_024876.4(COQ8B):c.1347C>T (p.Phe449=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1708373	NM_024876.4(COQ8B):c.1339dup (p.Glu447fs)	COQ8B (E406fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 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 1916192	NM_024876.4(COQ8B):c.1314C>T (p.His438=)	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 381873	NM_024876.4(COQ8B):c.1305C>T (p.Ser435=)	COQ8B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1185787	NM_024876.4(COQ8B):c.1304C>T (p.Ser435Phe)	COQ8B (S394F +1 more)	Single nucleotide variant (missense variant)	not provided	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 744856	NM_024876.4(COQ8B):c.1297-5C>A	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708472	NM_024876.4(COQ8B):c.1297-6T>G	COQ8B	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 9 +1 more	GConflicting classifications of pathogenicity
Select item 1965142	NM_024876.4(COQ8B):c.1297-9C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023571	NM_024876.4(COQ8B):c.1297-10C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385574	NM_024876.4(COQ8B):c.1297-13C>T	COQ8B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1910471	NM_024876.4(COQ8B):c.1297-15C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570862	NM_024876.4(COQ8B):c.1297-15del	COQ8B	Deletion (intron variant)	not provided	GBenign
Select item 673719	NM_024876.4(COQ8B):c.1297-179C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683204	NM_024876.4(COQ8B):c.1297-204A>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193358	NM_024876.4(COQ8B):c.1297-239G>C	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197936	NM_024876.4(COQ8B):c.1296+221G>A	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191166	NM_024876.4(COQ8B):c.1296+35_1296+36del	COQ8B	Deletion (intron variant)	not provided	GLikely benign
Select item 1569494	NM_024876.4(COQ8B):c.1296+13T>C	COQ8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2152808	NM_024876.4(COQ8B):c.1278C>G (p.Leu426=)	COQ8B	Single nucleotide variant (synonymous 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 1919266	NM_024876.4(COQ8B):c.1251G>A (p.Leu417=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 748096	NM_024876.4(COQ8B):c.1210-10G>C	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385863	NM_024876.4(COQ8B):c.1210-10G>A	COQ8B	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 9 +2 more	GBenign/Likely benign
Select item 678205	NM_024876.4(COQ8B):c.1209+124C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237129	NM_024876.4(COQ8B):c.1209+109_1209+115del	COQ8B	Microsatellite (intron variant)	not provided	GBenign
Select item 1203749	NM_024876.4(COQ8B):c.1209+42C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116020	NM_024876.4(COQ8B):c.1209+18C>T	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392646	NM_024876.4(COQ8B):c.1209G>A (p.Glu403=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 388422	NM_024876.4(COQ8B):c.1206C>T (p.Ile402=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 91850	NM_024876.4(COQ8B):c.1199dup (p.His400fs)	COQ8B (H359fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1028348	NM_024876.4(COQ8B):c.1186G>A (p.Glu396Lys)	COQ8B (E355K +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 1311424	NM_024876.4(COQ8B):c.1172G>A (p.Arg391Gln)	COQ8B (R350Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2969210	NM_024876.4(COQ8B):c.1144-18A>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263706	NM_024876.4(COQ8B):c.1144-184del	COQ8B	Deletion (intron variant)	not provided	GBenign
Select item 507530	NM_024876.4(COQ8B):c.1128T>C (p.Asp376=)	COQ8B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 509446	NM_024876.4(COQ8B):c.1125T>C (p.Tyr375=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 380036	NM_024876.4(COQ8B):c.1119C>T (p.Phe373=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 1878769	NM_024876.4(COQ8B):c.1090A>G (p.Met364Val)	COQ8B (M323V +1 more)	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 515740	NM_024876.4(COQ8B):c.1080G>A (p.Glu360=)	COQ8B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 380101	NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg)	COQ8B (T352R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1366953	NM_024876.4(COQ8B):c.1043T>A (p.Phe348Tyr)	COQ8B (F307Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521658	NM_024876.4(COQ8B):c.1037T>G (p.Ile346Ser)	COQ8B (I346S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714788	NM_024876.4(COQ8B):c.1036-3C>G	COQ8B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 386073	NM_024876.4(COQ8B):c.1035+13G>C	COQ8B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 742360	NM_024876.4(COQ8B):c.1035+8G>A	COQ8B	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 9 +1 more	GBenign/Likely benign
Select item 421229	NM_024876.4(COQ8B):c.1035+7_1035+8inv	COQ8B	Inversion (intron variant)	not provided +1 more	GLikely benign
Select item 379941	NM_024876.4(COQ8B):c.1035+7T>C	COQ8B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1077024	NM_024876.4(COQ8B):c.1035+3A>G	COQ8B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 974475	NM_024876.4(COQ8B):c.1035+2T>C	COQ8B	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 91849	NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)	COQ8B (R343W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 3239349	NM_024876.4(COQ8B):c.990C>T (p.Val330=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358532	NM_024876.4(COQ8B):c.988G>A (p.Val330Ile)	COQ8B (V330I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 91848	NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp)	COQ8B (R320W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GPathogenic

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