List of variants reported as likely pathogenic for hyperostosis

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 137

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HGVS	dbSNP	gnomAD frequency
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile)	rs183060698	0.00141
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00129
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)	rs766589610	0.00006
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00004
NM_002335.4(LRP5):c.1096G>A (p.Val366Met)	rs367543496	0.00003
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)	rs753973135	0.00002
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)	rs1385688129	0.00001
NM_002334.4(LRP4):c.1184-1G>A	rs1941502709	0.00001
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp)	rs371763360	0.00001
NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln)	rs1190944217	0.00001
NM_002335.4(LRP5):c.1183C>T (p.Arg395Trp)	rs1177481438	0.00001
NM_002335.4(LRP5):c.1210G>A (p.Gly404Arg)	rs750791263	0.00001
NM_002335.4(LRP5):c.1300G>A (p.Asp434Asn)	rs757888034	0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)	rs1398692057	0.00001
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met)	rs1311935185	0.00001
NM_032305.3(POLR3GL):c.-41-1G>A	rs782661984	0.00001
NM_032305.3(POLR3GL):c.326-1G>A	rs1553763618	0.00001
NM_207122.2(EXT2):c.1305+2T>C	rs202153611	0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)	rs745738318	0.00001
NC_000008.10:g.(?_118830654)_(118849460_?)dup
NC_000008.10:g.(?_118831895)_(118834856_?)del
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	rs2144576822
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu)	rs267604943
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp)	rs2144569208
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys)	rs66527965
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)	rs193922144
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala)	rs2144551547
NM_000088.4(COL1A1):c.3263del
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)	rs1906659084
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)	rs67815019
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs)	rs1906559620
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn)	rs1555571755
NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp)	rs72667031
NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu)
NM_000088.4(COL1A1):c.751-1G>C
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val)	rs1567761800
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	rs1555574303
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)	rs1587004341
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)	rs1554580149
NM_000127.3(EXT1):c.1031C>T (p.Ser344Phe)
NM_000127.3(EXT1):c.1037G>A (p.Arg346Lys)
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)	rs1131691337
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
NM_000127.3(EXT1):c.1184_1187del (p.Ser395fs)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)	rs1812075737
NM_000127.3(EXT1):c.1388del (p.Gly463fs)
NM_000127.3(EXT1):c.1417+2del
NM_000127.3(EXT1):c.1417+2dup
NM_000127.3(EXT1):c.1673_1684del (p.Thr558_Leu562delinsIle)
NM_000127.3(EXT1):c.1702_1703dup (p.Val569fs)
NM_000127.3(EXT1):c.1723-2A>T	rs1823255835
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
NM_000127.3(EXT1):c.1884-3C>G	rs2129694265
NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)	rs119103289
NM_000127.3(EXT1):c.398del (p.Asn133fs)
NM_000127.3(EXT1):c.444del (p.Ser149fs)	rs1182900059
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)	rs1817879832
NM_000127.3(EXT1):c.518del (p.Asn173fs)
NM_000127.3(EXT1):c.568_570del (p.His190del)	rs1817877188
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)	rs1563659467
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)	rs1817876107
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys)
NM_000127.3(EXT1):c.611_614dup (p.Glu205fs)	rs2130042673
NM_000127.3(EXT1):c.624del (p.Phe209fs)	rs2130042609
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)	rs1817893036
NM_000127.3(EXT1):c.83_84delinsG (p.Gln27_Phe28insTer)
NM_000127.3(EXT1):c.89_90insCT (p.Ser31fs)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)	rs1817867776
NM_000127.3(EXT1):c.936T>A (p.Cys312Ter)	rs2130041053
NM_000127.3(EXT1):c.976del (p.Glu326fs)
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.1257G>A (p.Trp419Ter)
NM_002334.4(LRP4):c.1508_1509del (p.Glu503fs)
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter)	rs1479002757
NM_002334.4(LRP4):c.2212C>T (p.Gln738Ter)
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)	rs267607222
NM_002334.4(LRP4):c.4273C>T (p.Arg1425Ter)
NM_002334.4(LRP4):c.547+1G>A	rs762425885
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_002334.4(LRP4):c.970del (p.Cys324fs)
NM_002335.4(LRP5):c.1264G>A (p.Ala422Thr)
NM_002335.4(LRP5):c.1293C>G (p.Tyr431Ter)
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	rs121908664
NM_002335.4(LRP5):c.2626G>A (p.Gly876Ser)
NM_002335.4(LRP5):c.3236+2T>G	rs1460396716
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)	rs141178995
NM_002335.4(LRP5):c.3709C>T (p.Arg1237Trp)
NM_002335.4(LRP5):c.3863A>G (p.Asp1288Gly)
NM_002335.4(LRP5):c.4191_4192dup (p.Phe1398fs)
NM_002335.4(LRP5):c.4263del (p.Phe1422fs)
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)	rs1085307078
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)	rs121908670
NM_002546.4(TNFRSF11B):c.419_420del (p.Thr140fs)
NM_003900.5(SQSTM1):c.1145dup (p.Leu382fs)
NM_003900.5(SQSTM1):c.1163dup (p.Glu389fs)
NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)
NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC
NM_003900.5(SQSTM1):c.205+2T>C
NM_003900.5(SQSTM1):c.206-1G>C
NM_003900.5(SQSTM1):c.206-2A>G
NM_003900.5(SQSTM1):c.970-2A>G	rs2113512370
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)	rs148402804
NM_025237.3(SOST):c.327C>A (p.Cys109Ter)
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr)	rs751598619
NM_207122.2(EXT2):c.1171C>A (p.Gln391Lys)
NM_207122.2(EXT2):c.1397_1401del (p.Val466fs)
NM_207122.2(EXT2):c.1489_1495+12del
NM_207122.2(EXT2):c.1496-1G>C
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1663-1G>A
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)
NM_207122.2(EXT2):c.1733del (p.Asn578fs)
NM_207122.2(EXT2):c.1758G>A (p.Trp586Ter)
NM_207122.2(EXT2):c.1778del (p.Val593fs)
NM_207122.2(EXT2):c.1807-2A>G
NM_207122.2(EXT2):c.1809T>G (p.Tyr603Ter)
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)	rs1590667793
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.238del (p.Arg80fs)	rs1565196333
NM_207122.2(EXT2):c.245del (p.Asp82fs)
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
NM_207122.2(EXT2):c.680A>T (p.Asp227Val)	rs2134984829
NM_207122.2(EXT2):c.744-2A>G
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter)
NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)	rs2135015566
NM_207122.2(EXT2):c.940-2A>T

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