Total 46 pathogenic variants reported for Hypoparathyroidism, deafness, renal disease syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) SNV
Germline		 Chr10:8064043 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA126732 rs_104894162

2 SubmittersRCV000018102RCV003556041
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) SNV
Germline		 Chr10:8064037 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome No Assertion Criteria Provided
 CA126734 rs_104894163

1 SubmittersRCV000018103
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) SNV
Germline		 Chr10:8073787 Pathogenic/Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126736 rs_104894164

5 SubmittersRCV000018105RCV000760379
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) SNV
Germline		 Chr10:8073747 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome No Assertion Criteria Provided
 CA126739 rs_104894165

1 SubmittersRCV000018109
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) SNV
Germline		 Chr10:8069573 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome No Assertion Criteria Provided
 CA128561 rs_387906621

1 SubmittersRCV000022539
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) SNV
Germline		 Chr10:8058543 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5404380 rs_143627754

2 SubmittersRCV000268412RCV001859788
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) SNV
Germline		 Chr10:8058769 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5404431 rs_148835259

3 SubmittersRCV000386611RCV001859789
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) SNV
Germline		 Chr10:8055712 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5404282 rs_749900784

2 SubmittersRCV000366165RCV003556316
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) SNV
Germline		 Chr10:8073746 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 rs_1564405163

2 SubmittersRCV000709930
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) SNV
Unknown		 Chr10:8069509 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 rs_1832898282

1 SubmittersRCV001089562
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) SNV
Germline		 Chr10:8058555 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
GATA3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1832688600

2 SubmittersRCV001105184RCV003938451
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) SNV
Germline		 Chr10:8073950 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 rs_374919553

1 SubmittersRCV001251020
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) SNV
Unknown		 Chr10:8064004 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 rs_767074039

1 SubmittersRCV001251506
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp) SNV
Germline		 Chr10:8064078 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome No Assertion Criteria Provided
 rs_746122348

1 SubmittersRCV001527690
NM_001002295.2(GATA3):c.778+1G>A SNV
Germline		 Chr10:8058842 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 rs_2131491404

1 SubmittersRCV001799520
NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter) SNV
Germline		 Chr10:8058738 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome No Assertion Criteria Provided
 rs_763575837

1 SubmittersRCV001822880
NM_001002295.2(GATA3):c.779-1G>C SNV
Germline		 Chr10:8063992 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 rs_2131500277

1 SubmittersRCV001783345
NM_001002295.2(GATA3):c.1050+2T>C SNV
Germline		 Chr10:8069600 Pathogenic Condition: not provided
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1832899364

2 SubmittersRCV001950897RCV003155447
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu) SNV
Germline		 Chr10:8064110 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2131501118

2 SubmittersRCV002273238RCV003565510
NM_001002295.2(GATA3):c.924+1G>A SNV
Germline		 Chr10:8064139 Pathogenic/Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471647RCV002573613
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro) SNV
Germline		 Chr10:8064035 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003985126
NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser) SNV
Germline		 Chr10:8064077 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991235