List of variants reported as likely pathogenic for acrofacial dysostosis

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

Total variants: 136

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HGVS	dbSNP	gnomAD frequency
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_153717.3(EVC):c.1886+5G>T	rs794726665	0.00036
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)	rs560967532	0.00017
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	rs201947120	0.00016
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)	rs767072839	0.00006
NM_147127.5(EVC2):c.229-2A>G	rs769799880	0.00004
NM_153717.3(EVC):c.175-2A>G	rs767186464	0.00003
NM_147127.5(EVC2):c.2829+1G>A	rs752255602	0.00002
NM_153717.3(EVC):c.2562-2A>G	rs1293098417	0.00002
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_147127.5(EVC2):c.229-1G>T	rs1214848359	0.00001
NM_147127.5(EVC2):c.3361-2A>G	rs1036371676	0.00001
NM_147127.5(EVC2):c.3361-2del	rs757914735	0.00001
NM_147127.5(EVC2):c.450+2T>C	rs781096099	0.00001
NM_147127.5(EVC2):c.706+2T>C	rs1360260333	0.00001
NM_147127.5(EVC2):c.893del (p.His298fs)	rs777505711	0.00001
NM_153717.3(EVC):c.175-9G>A	rs753317536	0.00001
NM_153717.3(EVC):c.2098-1G>A	rs773019082	0.00001
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NM_001361.5(DHODH):c.952G>T (p.Glu318Ter)	rs1288171226
NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)
NM_004247.4(EFTUD2):c.1286-2A>G	rs2145474253
NM_004247.4(EFTUD2):c.1286-2del
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)	rs749855263
NM_004247.4(EFTUD2):c.1607+3A>G	rs2145469964
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp)	rs2145461096
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs)	rs1597795170
NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter)	rs2145455322
NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met)	rs781402078
NM_004247.4(EFTUD2):c.2045+2T>G	rs863224868
NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)
NM_004247.4(EFTUD2):c.2133-2A>G
NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter)	rs1240441464
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe)	rs1597789186
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs)	rs1555564126
NM_004247.4(EFTUD2):c.2562-2_2562-1del	rs2050474390
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
NM_004247.4(EFTUD2):c.351-2A>G
NM_004247.4(EFTUD2):c.426+1dup
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)
NM_004247.4(EFTUD2):c.702+2T>C
NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)
NM_004247.4(EFTUD2):c.766_767del (p.Cys256fs)
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
NM_004247.4(EFTUD2):c.870-1G>T	rs2145503914
NM_004247.4(EFTUD2):c.870-5_870-4del	rs2145503920
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
NM_015425.6(POLR1A):c.190del (p.Cys64fs)
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)	rs587777695
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1470+1G>C	rs1577194652
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1710+1G>A	rs2108851279
NM_147127.5(EVC2):c.1710+2T>C	rs2108851273
NM_147127.5(EVC2):c.1711-1G>A	rs1553836169
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter)	rs186197620
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)	rs1367694162
NM_147127.5(EVC2):c.2046+1G>A	rs762947212
NM_147127.5(EVC2):c.2046+1G>C	rs762947212
NM_147127.5(EVC2):c.2046+1G>T	rs762947212
NM_147127.5(EVC2):c.2047-2A>G	rs1553833239
NM_147127.5(EVC2):c.222_228+21del	rs1484464278
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)	rs1577170055
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2706+1G>A	rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T	rs749251178
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>T	rs1553818428
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C	rs2108777040
NM_147127.5(EVC2):c.3273-2del	rs768380281
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del	rs1721107398
NM_147127.5(EVC2):c.451-2A>G	rs1553851870
NM_147127.5(EVC2):c.50dup (p.Leu18fs)	rs1553855151
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.816+2T>A	rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)	rs1368193719
NM_147127.5(EVC2):c.870+1G>A	rs2151724043
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)	rs1445771901
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1465-1G>A	rs1731156302
NM_153717.3(EVC):c.153_174+42del	rs1723019796
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1886+1G>C	rs753679094
NM_153717.3(EVC):c.1886+2T>G	rs1713228964
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-5_1904del	rs779275317
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T	rs1553891368
NM_153717.3(EVC):c.2097+2del	rs2152340942
NM_153717.3(EVC):c.2098-2A>G	rs1714398710
NM_153717.3(EVC):c.2304+2T>C	rs1553892090
NM_153717.3(EVC):c.2449+1G>A	rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2562-3_2584del	rs1577663625
NM_153717.3(EVC):c.2677_2688+7del	rs2152387946
NM_153717.3(EVC):c.2688+1G>C	rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.2T>A (p.Met1Lys)	rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.301-1G>A	rs1363547577
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.617+1G>A	rs1726841476
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.703-1G>C	rs1485152854
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	rs755381180
NM_153717.3(EVC):c.939+1G>A	rs1553873138
NM_153717.3(EVC):c.940-150T>G	rs576076928

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