List of variants in gene ENG reported as likely pathogenic

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: 95

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.-9G>A	rs368423516	0.00040
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001114753.3(ENG):c.-10C>T	rs756994701	0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)	rs1210433339	0.00001
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter)	rs1446116085
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)	rs2131885848
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
NM_001114753.3(ENG):c.111del (p.Glu38fs)
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	rs2131885751
NM_001114753.3(ENG):c.1134+1G>T
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	rs1830302008
NM_001114753.3(ENG):c.219+2T>A
NM_001114753.3(ENG):c.219+2T>C	rs2131918332
NM_001114753.3(ENG):c.219+2T>G
NM_001114753.3(ENG):c.219+5G>A	rs1554812252
NM_001114753.3(ENG):c.219+5G>C	rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	rs755348996
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	rs730880096
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	rs886039506
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)	rs1830715947
NM_001114753.3(ENG):c.296T>A (p.Leu99His)	rs2131895111
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001114753.3(ENG):c.360+4_360+7del	rs2131894927
NM_001114753.3(ENG):c.360+5G>A	rs1060501417
NM_001114753.3(ENG):c.360+5G>C	rs1060501417
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)	rs750115837
NM_001114753.3(ENG):c.408del (p.Glu137fs)	rs1554810506
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)	rs1830619692
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro)	rs756980265
NM_001114753.3(ENG):c.523+1G>A	rs113930974
NM_001114753.3(ENG):c.523+5G>C
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	rs1588583488
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)	rs1830602163
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del)	rs1554810408
NM_001114753.3(ENG):c.583del (p.Glu195fs)	rs1554810413
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)	rs2131889336
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)	rs2131889169
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)	rs1830599119
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)	rs1830599119
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	rs1830597676
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)	rs1588582695
NM_001114753.3(ENG):c.65_67+19del
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	rs1554810378
NM_001114753.3(ENG):c.67+2T>C	rs2131936480
NM_001114753.3(ENG):c.679_689+7del
NM_001114753.3(ENG):c.68-1G>A	rs878853659
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)	rs2131888057
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)	rs1060501415
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)	rs1830580925
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)	rs1588581846
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly)	rs1554810223
NM_001114753.3(ENG):c.787_789del (p.Ile263del)	rs1830579035
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser)	rs1085307431
NM_001114753.3(ENG):c.816+1G>A	rs111471193
NM_001114753.3(ENG):c.816+5G>C
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)	rs12042
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)	rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.895del (p.Leu299fs)	rs1064795636
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	rs1830569662
NM_001114753.3(ENG):c.896_991+90del	rs1554810125
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	rs1482440395
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg)	rs760001916
NM_001114753.3(ENG):c.991+2T>A
NM_001114753.3(ENG):c.991+4A>G	rs2131886797
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410
NM_001114753.3(ENG):c.992-49_1046del

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