Total 16 pathogenic variants reported for Thanatophoric dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) SNV
Germline/somatic		 Chr4:1806162 Pathogenic Spermatocytic seminoma
Multiple myeloma
Thanatophoric dysplasia, type 2
Condition: not provided
Carcinoma
Thanatophoric dysplasia type 1
Thanatophoric dysplasia
See cases
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126376 rs_78311289

18 SubmittersRCV000017730RCV000017729RCV000017728RCV000255799RCV000433411RCV003234912RCV003317039RCV003155029RCV004532376
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV
Germline/somatic		 Chr4:1801837 Pathogenic Multiple myeloma
Thanatophoric dysplasia type 1
Skeletal dysplasia with acanthosis nigricans
Epidermal nevus
Seborrheic keratosis
Transitional cell carcinoma of the bladder
Condition: not provided
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
13 conditions
Carcinoma
14 conditions
Cervical cancer
Hamartoma
FGFR3-related chondrodysplasia
Achondroplasia
FGFR3-related disorder
Connective tissue disorder
See cases
Malignant tumor of urinary bladder
Thanatophoric dysplasia, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126378 rs_121913482

38 SubmittersRCV000017732RCV000017731RCV000017733RCV000017734RCV000017735RCV000425802RCV000327823RCV000432622RCV000443913RCV000420041RCV000414822RCV000425165RCV000763118RCV001196297RCV001526641RCV001849270RCV001804739RCV002243648RCV002276552RCV003155030RCV003332082RCV003388567
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) SNV
Germline/somatic		 Chr4:1804365 Pathogenic Thanatophoric dysplasia type 1
Carcinoma
Urinary bladder carcinoma
not specified
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341399 rs_121913484

8 SubmittersRCV000017736RCV000441695RCV000431173RCV000757295RCV001528646
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) SNV
Germline		 Chr4:1807260 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341401 rs_121913101

6 SubmittersRCV000017737RCV000493112RCV003155031
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) SNV
Germline		 Chr4:1807260 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341404 rs_121913101

4 SubmittersRCV000017738RCV000520562RCV002504801
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) SNV
Germline		 Chr4:1807262 Pathogenic Thanatophoric dysplasia type 1
See cases
FGFR3-related disorder		 Criteria Provided
Single Submitter
 CA341407 rs_121913103

4 SubmittersRCV000017739RCV003155032RCV004528117
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV
Germline/somatic		 Chr4:1801841 Pathogenic Thanatophoric dysplasia type 1
Cervical cancer
Malignant tumor of urinary bladder
Seborrheic keratosis
Squamous cell lung carcinoma
Papillary renal cell carcinoma, sporadic
Urinary bladder carcinoma
Carcinoma
Squamous cell carcinoma of the head and neck
Condition: not provided
Connective tissue disorder
See cases
Malignant neoplastic disease
FGFR3-related disorder
Transitional cell carcinoma of the bladder
Achondroplasia
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126380 rs_121913483

24 SubmittersRCV000017742RCV000017743RCV000017744RCV000017745RCV000420501RCV000417690RCV000431989RCV000424421RCV000438171RCV000297175RCV002276554RCV003155033RCV003758684RCV004532377RCV000435437RCV003989294RCV000763119
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV
Germline		 Chr4:1801844 Pathogenic/Likely pathogenic Muenke syndrome
Saethre-Chotzen syndrome
not specified
Craniosynostosis syndrome
Condition: not provided
Inborn genetic diseases
7 conditions
Hypochondroplasia
Achondroplasia
Abnormality of the nervous system
FGFR3-related chondrodysplasia
14 conditions
Achondroplasia
Muenke syndrome
Hypochondroplasia
Thanatophoric dysplasia type 1
Crouzon syndrome-acanthosis nigricans syndrome
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA159700 rs_4647924

39 SubmittersRCV000017746RCV000017747RCV000121075RCV000193831RCV000436385RCV000622712RCV000626772RCV000987393RCV001334261RCV001813993RCV002273933RCV002476986RCV003483434RCV004554603
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) SNV
Germline		 Chr4:1806163 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
Hypochondroplasia
14 conditions
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126382 rs_121913105

7 SubmittersRCV000017750RCV001574416RCV002310592RCV002496392RCV004558267
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) SNV
Germline/somatic		 Chr4:1804372 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
Urinary bladder carcinoma
Carcinoma
Myeloproliferative disorder
Papillary renal cell carcinoma, sporadic
Transitional cell carcinoma of the bladder
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341413 rs_121913485

17 SubmittersRCV000017751RCV000255235RCV000442248RCV000419796RCV000421104RCV000427428RCV000434824RCV003155034
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV
Germline/somatic		 Chr4:1804362 Pathogenic Thanatophoric dysplasia type 1
Epidermal nevus
Condition: not provided
Urinary bladder carcinoma
Thanatophoric dysplasia
Achondroplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129946 rs_121913479

11 SubmittersRCV000017770RCV000029208RCV000413645RCV000443051RCV003493410RCV003989295
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) SNV
Germline		 Chr4:1807260 Likely pathogenic Thanatophoric dysplasia type 1
Thanatophoric dysplasia		 Criteria Provided
Single Submitter
 CA344893 rs_121913101

2 SubmittersRCV000055763RCV003322750
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) SNV
Germline		 Chr4:1807261 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344894 rs_397515514

4 SubmittersRCV000055764RCV000478851RCV002490635
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) SNV
Germline		 Chr4:1807262 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA344897 rs_121913103

3 SubmittersRCV000055765RCV002298459
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) SNV
Germline		 Chr4:1807262 Pathogenic/Likely pathogenic Thanatophoric dysplasia type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344898 rs_121913103

6 SubmittersRCV000055766RCV001569868
NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala) SNV
Germline		 Chr4:1806168 Pathogenic Thanatophoric dysplasia type 1 Criteria Provided
Single Submitter
 rs_1358618786

1 SubmittersRCV001376025