Total 17 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 Thanatophoric dysplasia, type 2
Condition: not provided
Multiple myeloma
Thanatophoric dysplasia
See cases
Spermatocytic seminoma
FGFR3-related disorder
Thanatophoric dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126376 rs_78311289

18 SubmittersRCV000017728RCV000255799RCV000017729RCV003317039RCV003155029RCV000017730RCV004532376RCV003234912
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV
Germline/somatic		 Chr4:1801837 Pathogenic Thanatophoric dysplasia type 1
14 conditions
FGFR3-related disorder
Achondroplasia
Connective tissue disorder
Thanatophoric dysplasia, type 2
Skeletal dysplasia with acanthosis nigricans
Epidermal nevus
Seborrheic keratosis
Multiple myeloma
Condition: not provided
13 conditions
Hamartoma
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Cervical cancer
FGFR3-related chondrodysplasia
See cases
Malignant tumor of urinary bladder
Muenke syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126378 rs_121913482

43 SubmittersRCV000017731RCV000763118RCV002243648RCV001804739RCV002276552RCV003388567RCV000017733RCV000017734RCV000017735RCV000017732RCV000327823RCV000414822RCV001526641RCV004795425RCV001196297RCV001849270RCV003155030RCV003332082RCV004798733
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) SNV
Germline		 Chr4:1804365 Pathogenic Thanatophoric dysplasia type 1
not specified
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341399 rs_121913484

7 SubmittersRCV000017736RCV000757295RCV001528646
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
Condition: not provided
Squamous cell lung carcinoma
14 conditions
Connective tissue disorder
See cases
Malignant neoplastic disease
Achondroplasia
FGFR3-related disorder
Thanatophoric dysplasia, type 2
Thanatophoric dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126380 rs_121913483

25 SubmittersRCV000017742RCV000017743RCV000017744RCV000017745RCV000297175RCV000420501RCV000763119RCV002276554RCV003155033RCV003758684RCV003989294RCV004532377RCV004795921
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV
Germline		 Chr4:1801844 Pathogenic/Likely pathogenic Saethre-Chotzen syndrome
Muenke syndrome
not specified
Craniosynostosis syndrome
Condition: not provided
7 conditions
Inborn genetic diseases
Hypochondroplasia
Achondroplasia
Abnormality of the nervous system
FGFR3-related chondrodysplasia
14 conditions
Crouzon syndrome-acanthosis nigricans syndrome
Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia type 1
Muenke syndrome
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA159700 rs_4647924

43 SubmittersRCV000017747RCV000017746RCV000121075RCV000193831RCV000436385RCV000626772RCV000622712RCV000987393RCV001334261RCV001813993RCV002273933RCV002476986RCV003483434RCV004554603
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) SNV
Germline		 Chr4:1806163 Pathogenic 14 conditions
Thanatophoric dysplasia type 1
Condition: not provided
Hypochondroplasia
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126382 rs_121913105

8 SubmittersRCV002496392RCV000017750RCV001574416RCV002310592RCV004558267
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) SNV
Germline		 Chr4:1804372 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
FGFR3-related disorder
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341413 rs_121913485

18 SubmittersRCV000017751RCV000255235RCV004737157RCV003155034
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV
Germline/somatic		 Chr4:1804362 Pathogenic Epidermal nevus
Thanatophoric dysplasia type 1
Achondroplasia
Neoplasm
Condition: not provided
Thanatophoric dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129946 rs_121913479

11 SubmittersRCV000029208RCV000017770RCV003989295RCV004668734RCV000413645RCV003493410
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
Achondroplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344898 rs_121913103

7 SubmittersRCV000055766RCV001569868RCV004760363
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) SNV
Germline		 Chr4:1807261 Pathogenic Condition: not provided
Connective tissue disorder
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397515514

6 SubmittersRCV001664800RCV002276678RCV004796410RCV004738226
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