ClinVar Miner

List of variants reported as pathogenic for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP
EFNB1, EX2-5DEL
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro) rs397514467
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala) rs387906744
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp) rs397514469
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr) rs587777188
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala) rs397514466
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) rs397514464
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) rs397514465
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys) rs397514465
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu) rs397514468
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val) rs397515433
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) rs201947120
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu) rs267606765
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys) rs267606769
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp) rs267606767
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala) rs267606767
NM_001361.5(DHODH):c.611del (p.Leu204fs)
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp) rs267606768
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.1414-2A>G
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) rs879253725
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) rs1135401812
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) rs879253726
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) rs879253727
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004247.4(EFTUD2):c.882del (p.Asp295fs)
NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) rs104894802
NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) rs104894803
NM_004429.4(EFNB1):c.128+2T>A rs1556096780
NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) rs28936070
NM_004429.4(EFNB1):c.472A>G (p.Met158Val) rs28936071
NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) rs28935170
NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) rs587777109
NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) rs1556107925
NM_004429.4(EFNB1):c.561del (p.Asn187fs) rs1057519035
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1148dup (p.His383fs) rs797045124
NM_005850.5(SF3B4):c.1199del (p.Pro400fs) rs797045123
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.1232del (p.Pro411fs) rs797045122
NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs) rs797045121
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.43_44GT[1] (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter) rs797045133
NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter) rs797045132
NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs) rs797045131
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957
NM_005850.5(SF3B4):c.769del (p.Ile257fs) rs797045130
NM_005850.5(SF3B4):c.796dup (p.Met266fs) rs797045129
NM_005850.5(SF3B4):c.827dup (p.Ser277fs) rs797045128
NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs) rs797045127
NM_005850.5(SF3B4):c.864del (p.His288fs) rs797045126
NM_005850.5(SF3B4):c.88del (p.Trp30fs) rs797045134
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) rs794729674
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) rs875989814
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015
NM_147127.5(EVC2):c.3446_3453CAGCCTCA[3] (p.Gln1154fs)
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
NM_147127.5(EVC2):c.707-2A>C
NM_147127.5(EVC2):c.824_825CA[1] (p.Gln276fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.155del (p.Arg52fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.724dup (p.Met242fs)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_212472.2(PRKAR1A):c.1004G>C (p.Arg335Pro) rs387906694
NM_212472.2(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_212472.2(PRKAR1A):c.1117T>C (p.Tyr373His) rs387906693
NM_212472.2(PRKAR1A):c.980T>C (p.Ile327Thr) rs387906695

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