Total 71 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 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA126732 rs_104894162

3 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 Condition: not provided
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126736 rs_104894164

5 SubmittersRCV000760379RCV000018105
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

4 SubmittersRCV000386611RCV001859789
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) SNV
Germline		 Chr10:8073954 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5404582 rs_541782074

2 SubmittersRCV000401283RCV005425926
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) SNV
Germline		 Chr10:8055712 Conflicting classifications of pathogenicity Condition: not provided
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Conflicting Classifications
 CA5404282 rs_749900784

3 SubmittersRCV003556316RCV000366165
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) SNV
Germline		 Chr10:8058422 Conflicting classifications of pathogenicity Condition: not provided
Hearing impairment
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Conflicting Classifications
 CA5404345 rs_750735308

4 SubmittersRCV000488087RCV001375342RCV002496880
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) SNV
Germline		 Chr10:8073746 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 CA375975287 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
 CA375974885 rs_1832898282

1 SubmittersRCV001089562
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) SNV
Germline		 Chr10:8069538 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5404522 rs_374947324

2 SubmittersRCV001106313RCV005093499
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) SNV
Germline		 Chr10:8073950 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided
Hearing impairment		 Criteria Provided
Conflicting Classifications
 CA5404579 rs_374919553

3 SubmittersRCV001251020RCV005094193RCV005626368
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) SNV
Unknown		 Chr10:8064004 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 CA375973395 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
 CA375973554 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
 CA375971271 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
 CA375970427 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
 CA375973366 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
 CA375975202 rs_1832899364

2 SubmittersRCV001950897RCV003155447
NM_001002295.2(GATA3):c.916C>T (p.Arg306Ter) SNV
Germline		 Chr10:8064130 Pathogenic Condition: not provided
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA375973862 rs_766098800

3 SubmittersRCV002226126RCV005235638
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
 CA375973713 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
 CA375973895 rs_111283999

2 SubmittersRCV002471647RCV002573613
NM_001002295.2(GATA3):c.82C>A (p.His28Asn) SNV
Germline		 Chr10:8055737 Conflicting classifications of pathogenicity Condition: not provided
GATA3-related disorder
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Conflicting Classifications
 CA5404285 rs_202045701

3 SubmittersRCV003118771RCV003396896RCV005047421
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr) SNV
Germline		 Chr10:8064073 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA375973544 rs_2491485235

2 SubmittersRCV003153004RCV005429428
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro) SNV
Germline		 Chr10:8064035 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter
 CA375973461 rs_2131500548

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
 CA375973553 rs_2131500836

1 SubmittersRCV003991235
NM_001002295.2(GATA3):c.1060C>A (p.Pro354Thr) SNV
Germline		 Chr10:8073748 Conflicting classifications of pathogenicity Hypoparathyroidism, deafness, renal disease syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004598523RCV005102071
NM_001002295.2(GATA3):c.425C>A (p.Ser142Ter) SNV
Germline		 Chr10:8058488 Pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004698924
NM_001002295.2(GATA3):c.86C>T (p.Pro29Leu) SNV
Germline		 Chr10:8055741 Conflicting classifications of pathogenicity Condition: not provided
Hypoparathyroidism, deafness, renal disease syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004793245RCV005040795
NM_001002295.2(GATA3):c.524C>A (p.Ser175Ter) SNV
Germline		 Chr10:8058587 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041780
NM_001002295.2(GATA3):c.1034A>G (p.Tyr345Cys) SNV
Germline		 Chr10:8069582 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005406183
NM_001002295.2(GATA3):c.497C>A (p.Ser166Ter) SNV
Germline		 Chr10:8058560 Likely pathogenic Hypoparathyroidism, deafness, renal disease syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005604061