Total 32 pathogenic variants reported for Hypoparathyroidism-retardation-dysmorphism syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter) SNV
Germline		 Chr1:235437471 Pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome No Assertion Criteria Provided
 CA117379 rs_121908384

1 SubmittersRCV000005611
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) SNV
Germline		 Chr1:235436399 Conflicting classifications of pathogenicity Condition: not provided
Hypoparathyroidism-retardation-dysmorphism syndrome
Inborn genetic diseases
Encephalopathy, progressive, with amyotrophy and optic atrophy
Autosomal recessive Kenny-Caffey syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA239231 rs_200022583

5 SubmittersRCV000173771RCV000290879RCV002516598RCV005396524
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) SNV
Germline		 Chr1:235414500 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided
TBCE-related disorder
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Gastric cancer
Thymoma		 Criteria Provided
Conflicting Classifications
 CA1463983 rs_143886167

6 SubmittersRCV000265978RCV000431082RCV004547665RCV005895571RCV005895569RCV005895570RCV005895572
NM_003193.5(TBCE):c.460+14C>T SNV
Germline		 Chr1:235419575 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464039 rs_143717755

2 SubmittersRCV000375485RCV002059460
NM_003193.5(TBCE):c.737+11C>T SNV
Germline		 Chr1:235434291 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464178 rs_181223923

2 SubmittersRCV000388661RCV002059461
NM_003193.5(TBCE):c.808C>T (p.Leu270=) SNV
Germline		 Chr1:235435815 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464212 rs_200169233

2 SubmittersRCV000387320RCV003765732
NM_003193.5(TBCE):c.100+15T>G SNV
Germline		 Chr1:235380164 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10609516 rs_886046149

2 SubmittersRCV000305943RCV002059459
NM_003193.5(TBCE):c.1125C>T (p.Pro375=) SNV
Germline		 Chr1:235438777 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464355 rs_762683460

2 SubmittersRCV000301622RCV003114466
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) SNV
Germline		 Chr1:235448755 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
not specified
Condition: not provided
TBCE-related disorder		 Criteria Provided
Conflicting Classifications
 CA1464542 rs_140662460

5 SubmittersRCV000274200RCV000504178RCV000953169RCV004549654
NM_003193.5(TBCE):c.1263C>G (p.Leu421=) SNV
Germline		 Chr1:235438915 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464386 rs_199943206

5 SubmittersRCV000301320RCV000909049
NM_003193.5(TBCE):c.738-12T>A SNV
Germline		 Chr1:235435733 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided
Chronic lymphocytic leukemia/small lymphocytic lymphoma		 Criteria Provided
Conflicting Classifications
 CA1464200 rs_370888603

3 SubmittersRCV000349174RCV002059462RCV005891663
NM_003193.5(TBCE):c.909G>A (p.Thr303=) SNV
Germline		 Chr1:235436554 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided
TBCE-related disorder		 Criteria Provided
Conflicting Classifications
 CA1464264 rs_202063874

4 SubmittersRCV000348208RCV002262929RCV004549653
NM_003193.5(TBCE):c.585C>T (p.Ser195=) SNV
Germline		 Chr1:235430729 Conflicting classifications of pathogenicity Condition: not provided
Hypoparathyroidism-retardation-dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA1464090 rs_139440109

4 SubmittersRCV000596850RCV001101430
NM_003193.5(TBCE):c.100+1G>A SNV
Germline		 Chr1:235380150 Pathogenic/Likely pathogenic Autosomal recessive Kenny-Caffey syndrome
Condition: not provided
Disorder of sexual differentiation
TBCE-related disorder
Hypoparathyroidism-retardation-dysmorphism syndrome
Autosomal recessive Kenny-Caffey syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Hypoparathyroidism-retardation-dysmorphism syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1463887 rs_200356271

12 SubmittersRCV001198592RCV001322455RCV001568319RCV004549847RCV005021158RCV005870856RCV005897382
NM_003193.5(TBCE):c.945C>T (p.Asn315=) SNV
Germline		 Chr1:235436590 Conflicting classifications of pathogenicity Condition: not provided
Hypoparathyroidism-retardation-dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA1464270 rs_138014826

3 SubmittersRCV000880755RCV001095971
NM_003193.5(TBCE):c.159C>T (p.His53=) SNV
Germline		 Chr1:235401561 Conflicting classifications of pathogenicity Condition: not provided
Hypoparathyroidism-retardation-dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA1463939 rs_754279473

2 SubmittersRCV000929812RCV001099437
NM_003193.5(TBCE):c.835T>C (p.Leu279=) SNV
Germline		 Chr1:235436387 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464229 rs_147049084

2 SubmittersRCV001095970RCV001873464
NM_003193.5(TBCE):c.963+8C>G SNV
Germline		 Chr1:235436616 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464276 rs_199555636

3 SubmittersRCV001095972RCV002557975
NM_003193.5(TBCE):c.1270+9G>A SNV
Germline		 Chr1:235438931 Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1464392 rs_748495327

2 SubmittersRCV001097760RCV003727846
NM_003193.5(TBCE):c.101-1G>C SNV
Germline		 Chr1:235401502 Likely pathogenic Condition: not provided
Hypoparathyroidism-retardation-dysmorphism syndrome
Autosomal recessive Kenny-Caffey syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy		 Criteria Provided
Single Submitter
 CA344981733 rs_1188106799

3 SubmittersRCV001723273RCV005005995
NM_003193.5(TBCE):c.433A>T (p.Lys145Ter) SNV
Germline		 Chr1:235419534 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Kenny-Caffey syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Hypoparathyroidism-retardation-dysmorphism syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344926320 rs_1329466833

2 SubmittersRCV003560355RCV005014791
NM_003193.5(TBCE):c.34C>T (p.Arg12Ter) SNV
Germline		 Chr1:235380083 Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Autosomal recessive Kenny-Caffey syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005010057
NM_003193.5(TBCE):c.185+1G>C SNV
Germline		 Chr1:235401588 Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Autosomal recessive Kenny-Caffey syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005010066
NM_003193.5(TBCE):c.561-2A>G SNV
Germline		 Chr1:235430703 Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Autosomal recessive Kenny-Caffey syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005010071
NM_003193.5(TBCE):c.1116+1G>T SNV
Germline		 Chr1:235437475 Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Autosomal recessive Kenny-Caffey syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005017901