List of variants in gene BCOR reported as uncertain significance by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 85

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HGVS	dbSNP	gnomAD frequency
NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His)	rs367859441	0.00009
NM_001123385.2(BCOR):c.2690C>T (p.Ser897Leu)	rs147251146	0.00007
NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu)	rs371205644	0.00007
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp)	rs142866108	0.00006
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile)	rs764515953	0.00005
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe)	rs587778093	0.00005
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly)	rs770784599	0.00005
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn)	rs886042813	0.00005
NM_001123385.2(BCOR):c.2008C>T (p.Pro670Ser)	rs148886271	0.00004
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala)	rs372910732	0.00003
NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His)	rs772117755	0.00003
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met)	rs762705967	0.00003
NM_001123385.2(BCOR):c.221G>A (p.Arg74His)	rs1434826738	0.00002
NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg)	rs753661121	0.00002
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=)	rs1226506629	0.00002
NM_001123385.2(BCOR):c.3692G>A (p.Arg1231Gln)	rs773204535	0.00002
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu)	rs1033092772	0.00002
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro)	rs587778100	0.00002
NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys)	rs148052848	0.00001
NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala)	rs749370134	0.00001
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe)	rs1041380012	0.00001
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val)	rs768557634	0.00001
NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp)	rs1462787258	0.00001
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu)	rs904253464	0.00001
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=)	rs781016038	0.00001
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr)	rs527732438	0.00001
NM_001123385.2(BCOR):c.3092G>A (p.Arg1031Lys)	rs755537147	0.00001
NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu)	rs1935101181	0.00001
NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn)	rs752258567	0.00001
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala)	rs759345634	0.00001
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp)	rs1602151728
NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn)	rs1197348343
NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser)
NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln)
NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg)
NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val)
NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr)
NM_001123385.2(BCOR):c.2351A>T (p.Asn784Ile)
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His)	rs1555918075
NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu)
NM_001123385.2(BCOR):c.2461G>A (p.Val821Met)
NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly)
NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys)
NM_001123385.2(BCOR):c.2655_2660del (p.Gly886_Thr887del)	rs2147205508
NM_001123385.2(BCOR):c.2664C>A (p.Asn888Lys)	rs1935534815
NM_001123385.2(BCOR):c.2815T>C (p.Tyr939His)	rs2147202440
NM_001123385.2(BCOR):c.2917G>A (p.Val973Met)
NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val)
NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys)
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln)	rs757991049
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)
NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile)
NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln)	rs758883383
NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His)
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg)	rs1935083156
NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del)
NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile)
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly)	rs1935888587
NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala)
NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile)
NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=)
NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu)
NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys)
NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys)
NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val)	rs2147031295
NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp)
NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn)
NM_001123385.2(BCOR):c.4240C>G (p.Gln1414Glu)	rs1602122136
NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His)
NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala)
NM_001123385.2(BCOR):c.4550T>C (p.Leu1517Pro)	rs765759611
NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg)
NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del)	rs2146871024
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter)	rs755680047
NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu)
NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del)	rs2146829974
NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro)
NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val)
NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp)	rs2146825751
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg)	rs771428828
NM_001123385.2(BCOR):c.59T>C (p.Val20Ala)
NM_017745.5(BCOR):c.-292-?_*863+?dup

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