Total 76 pathogenic variants reported for Multiple gastrointestinal atresias 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) SNV
Germline		 Chr2:47073814 Pathogenic/Likely pathogenic Condition: not provided
Gastrointestinal defects and immunodeficiency syndrome 1
Multiple gastrointestinal atresias
Gastrointestinal defect and immunodeficiency syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA143779 rs_587776972

5 SubmittersRCV000432704RCV004562230RCV005089402RCV003226176
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) SNV
Germline		 Chr2:47046329 Conflicting classifications of pathogenicity Condition: not provided
Multiple gastrointestinal atresias
not specified
Gastrointestinal defects and immunodeficiency syndrome 1
TTC7A-related disorder		 Criteria Provided
Conflicting Classifications
 CA060659 rs_139010200

8 SubmittersRCV000427110RCV001081099RCV001280647RCV003227731RCV003919994
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) SNV
Germline		 Chr2:47050043 Conflicting classifications of pathogenicity Condition: not provided
Multiple gastrointestinal atresias
not specified
Gastrointestinal defects and immunodeficiency syndrome 1
TTC7A-related disorder		 Criteria Provided
Conflicting Classifications
 CA060745 rs_149602485

8 SubmittersRCV000428092RCV001081100RCV001280648RCV003227730RCV003919993
NM_020458.4(TTC7A):c.844-1G>T SNV
Germline		 Chr2:46994356 Pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Single Submitter
 CA10575705 rs_777469885

2 SubmittersRCV000170529RCV004562390
NM_020458.4(TTC7A):c.1204-2A>G SNV
Germline		 Chr2:47006639 Pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Single Submitter
 CA10575706 rs_876657392

2 SubmittersRCV000170530RCV004562391
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) SNV
Germline		 Chr2:47024294 Pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199687 rs_786205698

3 SubmittersRCV000170531RCV004562392
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) SNV
Germline		 Chr2:46950389 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Gastrointestinal defect and immunodeficiency syndrome
Gastrointestinal defects and immunodeficiency syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199689 rs_147914967

6 SubmittersRCV000170533RCV003226234RCV004562394RCV004589829
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter) SNV
Germline		 Chr2:47073816 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA10654754 rs_1057516047

1 SubmittersRCV000408605
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) SNV
Germline		 Chr2:46956927 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided
Gastrointestinal defects and immunodeficiency syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647159 rs_61746139

5 SubmittersRCV000552097RCV001532402RCV002060296RCV002528316
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) SNV
Germline		 Chr2:46994487 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
not specified
Gastrointestinal defects and immunodeficiency syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1647421 rs_144971707

5 SubmittersRCV000633669RCV002265829RCV002492961RCV002291285
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr) SNV
Germline		 Chr2:47005994 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647509 rs_115479276

2 SubmittersRCV000633664RCV002533187
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) SNV
Germline		 Chr2:47024351 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1647774 rs_6755258

3 SubmittersRCV000633665RCV002529818RCV003224355
NM_020458.4(TTC7A):c.563G>A (p.Arg188His) SNV
Germline		 Chr2:46975018 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1647257 rs_147471840

6 SubmittersRCV000689206RCV001532403RCV002272331
NM_020458.4(TTC7A):c.2015C>T (p.Ser672Phe) SNV
Germline		 Chr2:47050044 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647958 rs_143184428

2 SubmittersRCV000702513RCV004026597
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile) SNV
Germline		 Chr2:47006045 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided
Gastrointestinal defects and immunodeficiency syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647523 rs_146284515

5 SubmittersRCV000694371RCV001509147RCV004723087RCV004025192
NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter) SNV
Germline		 Chr2:47006687 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346714456 rs_1558568116

2 SubmittersRCV000700986RCV000760787
NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg) SNV
Germline		 Chr2:47021916 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided
Gastrointestinal defect and immunodeficiency syndrome		 Criteria Provided
Conflicting Classifications
 CA1647671 rs_150438028

4 SubmittersRCV000695063RCV001509149RCV003483710
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) SNV
Germline		 Chr2:46950367 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1647062 rs_112301354

2 SubmittersRCV000768358RCV003224464
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) SNV
Germline		 Chr2:47073830 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1
TTC7A-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1648174 rs_151032299

4 SubmittersRCV000768359RCV003224465RCV003908078RCV003243295
NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter) SNV
Germline		 Chr2:46950458 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346717324 rs_766411601

1 SubmittersRCV000794117
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter) SNV
Germline		 Chr2:47005928 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346714070 rs_1297794582

2 SubmittersRCV000815999RCV005029502
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) SNV
Germline		 Chr2:47021902 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided
not specified
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1647666 rs_201100272

6 SubmittersRCV000795715RCV002245672RCV005418350RCV005029459
NM_020458.4(TTC7A):c.556C>T (p.Arg186Cys) SNV
Germline		 Chr2:46975011 Conflicting classifications of pathogenicity Condition: not provided
Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1647252 rs_148347796

3 SubmittersRCV001772176RCV000973988RCV003329170
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser) SNV
Germline		 Chr2:47005926 Conflicting classifications of pathogenicity Condition: not provided
Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647487 rs_200443615

3 SubmittersRCV000909982RCV002065792RCV002542110
NM_020458.4(TTC7A):c.1093G>A (p.Val365Met) SNV
Germline		 Chr2:47005949 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1647497 rs_202176990

3 SubmittersRCV000902166RCV002281142
NM_020458.4(TTC7A):c.2444C>T (p.Ala815Val) SNV
Germline		 Chr2:47073790 Conflicting classifications of pathogenicity Condition: not provided
Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1648166 rs_748142531

3 SubmittersRCV000909630RCV001443985RCV004962935
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter) SNV
Germline		 Chr2:46956902 Pathogenic/Likely pathogenic Condition: not provided
Gastrointestinal defects and immunodeficiency syndrome 1
Multiple gastrointestinal atresias		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346718684 rs_773754673

3 SubmittersRCV000997128RCV005029553RCV005056733
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) SNV
Germline		 Chr2:46993478 Conflicting classifications of pathogenicity Common variable immunodeficiency
Multiple gastrointestinal atresias
not specified
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1647360 rs_150269540

4 SubmittersRCV001027641RCV001367045RCV004526797RCV005394653
NM_020458.4(TTC7A):c.1802+3G>C SNV
Germline		 Chr2:47029387 Conflicting classifications of pathogenicity Common variable immunodeficiency
Multiple gastrointestinal atresias
not specified		 Criteria Provided
Conflicting Classifications
 CA915943914 rs_1572961263

3 SubmittersRCV001027636RCV001862411RCV003230621
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) SNV
Germline		 Chr2:47073841 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1648180 rs_755985958

3 SubmittersRCV001027861RCV001759925
NM_020458.4(TTC7A):c.427A>G (p.Met143Val) SNV
Germline		 Chr2:46956917 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
See cases
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647152 rs_762713132

3 SubmittersRCV001065497RCV002252309RCV004963086
NM_020458.4(TTC7A):c.2080A>G (p.Met694Val) SNV
Germline		 Chr2:47051808 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1648003 rs_143506259

2 SubmittersRCV001056710RCV004678927
NM_020458.4(TTC7A):c.1203+4C>T SNV
Germline		 Chr2:47006063 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
not specified		 Criteria Provided
Conflicting Classifications
 CA1647534 rs_147621000

3 SubmittersRCV001052946RCV005418970
NM_020458.4(TTC7A):c.764+5G>A SNV
Unknown		 Chr2:46978912 Likely pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA532329293 rs_1180479579

1 SubmittersRCV001197564
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) SNV
Germline		 Chr2:47046381 Pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346719777 rs_1682321195

2 SubmittersRCV001215173RCV002272413
NM_020458.4(TTC7A):c.1288-1G>T SNV
Germline		 Chr2:47011330 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA46624929 rs_568082272

2 SubmittersRCV001215172RCV002272412
NM_020458.4(TTC7A):c.518G>A (p.Gly173Asp) SNV
Germline		 Chr2:46974973 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Conflicting Classifications
 CA346722770 rs_1283566399

2 SubmittersRCV001297770RCV004998797
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe) SNV
Germline		 Chr2:47024321 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647759 rs_749071692

2 SubmittersRCV001362971RCV003169816
NM_020458.4(TTC7A):c.1919+1G>C SNV
Germline		 Chr2:47046432 Likely pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346719990 rs_751311194

1 SubmittersRCV001377227
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter) SNV
Germline		 Chr2:47024339 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1647769 rs_765653721

2 SubmittersRCV001380324RCV005023130
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser) SNV
Germline		 Chr2:47024288 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1647753 rs_201008860

2 SubmittersRCV001405534RCV002553420
NM_020458.4(TTC7A):c.2246A>G (p.Tyr749Cys) SNV
Germline		 Chr2:47060862 Conflicting classifications of pathogenicity Multiple gastrointestinal atresias
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1648074 rs_200237098

2 SubmittersRCV001451195RCV004681187
NM_020458.4(TTC7A):c.2018-1G>C SNV
Germline		 Chr2:47051745 Pathogenic/Likely pathogenic Condition: not provided
Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA46626566 rs_948534045

4 SubmittersRCV001776614RCV001780445RCV003147653
NM_020458.4(TTC7A):c.1783G>T (p.Glu595Ter) SNV
Germline		 Chr2:47029365 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA1647844 rs_201481224

1 SubmittersRCV002035401
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter) SNV
Germline		 Chr2:47006650 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1647566 rs_779549457

2 SubmittersRCV001953482RCV005032012
NM_020458.4(TTC7A):c.517+1G>C SNV
Germline		 Chr2:46957008 Likely pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346718978 rs_2104019844

1 SubmittersRCV002005793
NM_020458.4(TTC7A):c.764+1G>T SNV
Germline		 Chr2:46978908 Likely pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA1647333 rs_756396993

1 SubmittersRCV002033669
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter) SNV
Germline		 Chr2:47051874 Pathogenic/Likely pathogenic Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346713885 rs_762685822

2 SubmittersRCV001930325RCV005023429
NM_020458.4(TTC7A):c.1641+1G>A SNV
Germline		 Chr2:47024360 Likely pathogenic Gastrointestinal defect and immunodeficiency syndrome
Multiple gastrointestinal atresias		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346716450 rs_1181654735

2 SubmittersRCV002510355RCV003643029
NM_020458.4(TTC7A):c.1510+2T>C SNV
Germline		 Chr2:47021981 Likely pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346716165 rs_1232054387

1 SubmittersRCV002755650
NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter) SNV
Germline		 Chr2:46950404 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346716883 rs_1558499471

1 SubmittersRCV002815739
NM_020458.4(TTC7A):c.2272A>T (p.Lys758Ter) SNV
Germline		 Chr2:47060888 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346714924 rs_2465432583

1 SubmittersRCV002877215
NM_020458.4(TTC7A):c.1528C>T (p.Gln510Ter) SNV
Germline		 Chr2:47023425 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346716211 rs_1336620798

1 SubmittersRCV002914300
NM_020458.4(TTC7A):c.1450G>T (p.Glu484Ter) SNV
Germline		 Chr2:47021919 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346716037 rs_778271393

1 SubmittersRCV003528920
NM_020458.4(TTC7A):c.499G>T (p.Glu167Ter) SNV
Germline		 Chr2:46956989 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter
 CA346718933 rs_2466284122

1 SubmittersRCV003643715
NM_020458.4(TTC7A):c.2152+1G>T SNV
Germline		 Chr2:47051881 Likely pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter

1 SubmittersRCV005173663
NM_020458.4(TTC7A):c.1498C>T (p.Gln500Ter) SNV
Germline		 Chr2:47021967 Pathogenic Multiple gastrointestinal atresias Criteria Provided
Single Submitter

1 SubmittersRCV005186513