Total 33 pathogenic variants reported for Hydatidiform mole, recurrent, 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001127255.2(NLRP7):c.352+1G>A SNV
Germline		 Chr19:54940930 Pathogenic Hydatidiform mole, recurrent, 1 No Assertion Criteria Provided
 CA150130 rs_104895504

2 SubmittersRCV000001651
NM_001127255.2(NLRP7):c.2471+1G>A SNV
Germline		 Chr19:54934488 Pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter
 CA150044 rs_104895505

3 SubmittersRCV000001652
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) SNV
Germline		 Chr19:54938096 Pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter
 CA115075 rs_104895506

3 SubmittersRCV000001653
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) SNV
Germline		 Chr19:54938095 Pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter
 CA115078 rs_104895502

3 SubmittersRCV000001654
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) SNV
Germline		 Chr19:54930571 Likely pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA115081 rs_104895503

4 SubmittersRCV000001655
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter) SNV
Germline		 Chr19:54939525 Pathogenic Hydatidiform mole, recurrent, 1 No Assertion Criteria Provided
 CA115084 rs_104895530

2 SubmittersRCV000001656
NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln) SNV
Germline		 Chr19:54938095 Pathogenic Hydatidiform mole, recurrent, 1
Gastric cancer		 Criteria Provided
Single Submitter
 CA115087 rs_104895502

4 SubmittersRCV000001658RCV005887195
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) SNV
Germline		 Chr19:54939626 Pathogenic Hydatidiform mole, recurrent, 1 No Assertion Criteria Provided
 CA115090 rs_104895548

2 SubmittersRCV000001659
NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser) SNV
Germline		 Chr19:54938222 Pathogenic Hydatidiform mole, recurrent, 1 No Assertion Criteria Provided
 CA115093 rs_104895549

2 SubmittersRCV000001660
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) SNV
Germline		 Chr19:54938079 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA149988 rs_104895524

7 SubmittersRCV000083987RCV000339188RCV000953390
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) SNV
Germline		 Chr19:54938078 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA149991 rs_77072552

5 SubmittersRCV000083988RCV000281796RCV001701745
NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) SNV
Germline		 Chr19:54936405 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA150018 rs_104895526

4 SubmittersRCV000084000RCV003415856
NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp) SNV
Germline		 Chr19:54936400 Pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter
 CA150021 rs_104895525

2 SubmittersRCV000084001
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) SNV
Germline		 Chr19:54936313 Pathogenic Hydatidiform mole, recurrent, 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150027 rs_104895512

6 SubmittersRCV000084003RCV001061628RCV006713200
NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu) SNV
Germline		 Chr19:54940245 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA150142 rs_104895529

5 SubmittersRCV000084057RCV001701746
NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser) SNV
Germline		 Chr19:54940118 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA150145 rs_61732584

4 SubmittersRCV000084058RCV003884349
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu) SNV
Germline		 Chr19:54939737 Conflicting classifications of pathogenicity Condition: not provided
Hydatidiform mole, recurrent, 1		 Criteria Provided
Conflicting Classifications
 CA310018607 rs_143169084

4 SubmittersRCV000310350RCV000407231
NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His) SNV
Germline		 Chr19:54934576 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA310011253 rs_200965650

2 SubmittersRCV000392533RCV002521253
NM_001127255.2(NLRP7):c.531C>T (p.His177=) SNV
Germline		 Chr19:54940288 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1 Criteria Provided
Conflicting Classifications
 CA310019601 rs_746150420

3 SubmittersRCV000318788
NM_001127255.2(NLRP7):c.1762G>A (p.Val588Met) SNV
Germline		 Chr19:54939057 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Inborn genetic diseases
Condition: not provided
NLRP7-related disorder
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA310017304 rs_146872991

6 SubmittersRCV001132174RCV002556843RCV003413940RCV003953507RCV005913827
NM_001127255.2(NLRP7):c.1569C>T (p.Phe523=) SNV
Germline		 Chr19:54939250 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA310017631 rs_200362946

3 SubmittersRCV001132177RCV003425945
NM_001127255.2(NLRP7):c.1149G>A (p.Pro383=) SNV
Germline		 Chr19:54939670 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
NLRP7-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA310018435 rs_752268912

3 SubmittersRCV001129554RCV003945845RCV005243475
NM_001127255.2(NLRP7):c.930G>T (p.Gln310His) SNV
Germline		 Chr19:54939889 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA310018920 rs_145973556

4 SubmittersRCV001132289RCV001529621
NM_001127255.2(NLRP7):c.298A>G (p.Ile100Val) SNV
Germline		 Chr19:54940985 Conflicting classifications of pathogenicity Hydatidiform mole, recurrent, 1
NLRP7-related disorder
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA310020658 rs_150677758

4 SubmittersRCV001332910RCV003918859RCV004035752RCV005243511
NM_001127255.2(NLRP7):c.277+1G>A SNV
Unknown		 Chr19:54941434 Likely pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter
 CA407864453 rs_2069219201

1 SubmittersRCV003313015
NM_001127255.2(NLRP7):c.2177C>T (p.Ala726Val) SNV
Germline		 Chr19:54936384 Likely pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter

1 SubmittersRCV004788380
NM_001127255.2(NLRP7):c.818G>A (p.Trp273Ter) SNV
Germline		 Chr19:54940001 Pathogenic Hydatidiform mole, recurrent, 1 Criteria Provided
Single Submitter

1 SubmittersRCV005880846