Total 22 pathogenic variants reported for Achondroplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) SNV
Germline		 Chr19:18783125 Pathogenic/Likely pathogenic Pseudoachondroplasia, severe
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120170 rs_137852655

4 SubmittersRCV000009772RCV000033890RCV003989283RCV002223755
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV
Germline/somatic		 Chr4:1804392 Pathogenic Achondroplasia
Epidermal nevus
Condition: not provided
14 conditions
Inborn genetic diseases
Hypochondroplasia
Connective tissue disorder
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
FGFR3-related disorder
Muenke syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Intellectual disability
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129944 rs_28931614

55 SubmittersRCV000017724RCV000029207RCV000255750RCV000763121RCV001266979RCV001807732RCV002276551RCV003227605RCV004545731RCV004798732RCV004783725RCV005624694RCV005209487
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV
Germline		 Chr4:1804392 Pathogenic Achondroplasia
Condition: not provided
Hypochondroplasia
FGFR3-related disorder
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280218 rs_28931614

13 SubmittersRCV000017725RCV000727147RCV000987394RCV004532375RCV004795424
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) SNV
Germline		 Chr4:1804377 Pathogenic Achondroplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA280219 rs_75790268

2 SubmittersRCV000017727RCV002228031
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV
Germline/somatic		 Chr4:1801837 Pathogenic Thanatophoric dysplasia type 1
Multiple myeloma
Skeletal dysplasia with acanthosis nigricans
Epidermal nevus
Seborrheic keratosis
Condition: not provided
13 conditions
Cervical cancer
Achondroplasia
Connective tissue disorder
Hamartoma
FGFR3-related chondrodysplasia
Thanatophoric dysplasia, type 2
See cases
Malignant tumor of urinary bladder
Muenke syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
14 conditions
FGFR3-related disorder
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126378 rs_121913482

46 SubmittersRCV000017731RCV000017732RCV000017733RCV000017734RCV000017735RCV000327823RCV000414822RCV001196297RCV001804739RCV002276552RCV001526641RCV001849270RCV003388567RCV003155030RCV003332082RCV004798733RCV004795425RCV000763118RCV002243648RCV005025063
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV
Germline		 Chr4:1805644 Pathogenic Hypochondroplasia
Condition: not provided
Achondroplasia
Neurodevelopmental delay
FGFR3-related disorder
FGFR3-related chondrodysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341410 rs_28933068

34 SubmittersRCV000017740RCV000255928RCV000353403RCV002273932RCV004541008RCV004786271
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV
Germline		 Chr4:1805644 Pathogenic/Likely pathogenic Hypochondroplasia
Condition: not provided
Short stature
Inborn genetic diseases
14 conditions
Achondroplasia
Larsen syndrome
Connective tissue disorder
FGFR3-related disorder
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341412 rs_28933068

31 SubmittersRCV000017741RCV000255372RCV000415460RCV000622950RCV000763122RCV001332222RCV001804740RCV002276553RCV004737156RCV005411260
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
Achondroplasia
Malignant neoplastic disease
FGFR3-related disorder
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126380 rs_121913483

26 SubmittersRCV000017742RCV000017743RCV000017744RCV000017745RCV000297175RCV000420501RCV000763119RCV002276554RCV003155033RCV003989294RCV003758684RCV004532377RCV004795921
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
Inborn genetic diseases
7 conditions
Hypochondroplasia
Achondroplasia
Abnormality of the nervous system
FGFR3-related chondrodysplasia
FGFR3-related disorder
Thanatophoric dysplasia type 1
Crouzon syndrome-acanthosis nigricans syndrome
Achondroplasia
Hypochondroplasia
Muenke syndrome
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA159700 rs_4647924

45 SubmittersRCV000017747RCV000017746RCV000121075RCV000193831RCV000436385RCV000622712RCV000626772RCV000987393RCV001334261RCV001813993RCV002273933RCV004554603RCV003483434RCV005003375
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

8 SubmittersRCV000017750RCV001574416RCV002310592RCV002496392RCV004558267
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) SNV
Germline		 Chr4:1805643 Pathogenic/Likely pathogenic Hypochondroplasia
Condition: not provided
Inborn genetic diseases
Achondroplasia
Neurodevelopmental delay		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341420 rs_77722678

12 SubmittersRCV000017758RCV001269614RCV000623459RCV002262566RCV002273934
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) SNV
Germline		 Chr4:1801930 Pathogenic Achondroplasia
Hypochondroplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280224 rs_121913114

5 SubmittersRCV000017766RCV000017767RCV000730955
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV
Germline		 Chr4:1799395 Pathogenic/Likely pathogenic Hypochondroplasia
9 conditions
Achondroplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341425 rs_121913116

5 SubmittersRCV000017769RCV000850610RCV001334259RCV002513086
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV
Germline/somatic		 Chr4:1804362 Pathogenic Thanatophoric dysplasia type 1
Epidermal nevus
Condition: not provided
Achondroplasia
Neoplasm
Thanatophoric dysplasia
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129946 rs_121913479

12 SubmittersRCV000017770RCV000029208RCV000413645RCV003989295RCV004668734RCV003493410RCV005025064
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.616-6G>A SNV
Germline		 Chr4:1801614 Conflicting classifications of pathogenicity not specified
Condition: not provided
Achondroplasia		 Criteria Provided
Conflicting Classifications
 CA2809904 rs_17883400

4 SubmittersRCV000245965RCV000960660RCV001334260
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) SNV
Germline		 Chr15:48520676 Likely pathogenic Marfan syndrome
Achondroplasia
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392347105 rs_1597583989

3 SubmittersRCV000989335RCV001805957RCV001858706
NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) SNV
Germline		 Chr4:1804398 Likely pathogenic Achondroplasia Criteria Provided
Single Submitter
 CA355979038 rs_1360936268

1 SubmittersRCV001806350
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) SNV
Germline		 Chr4:1804437 Likely pathogenic Achondroplasia Criteria Provided
Single Submitter
 CA355979201 rs_2108797528

1 SubmittersRCV002227915
NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln) SNV
Germline		 Chr4:1801394 Conflicting classifications of pathogenicity Condition: not provided
Achondroplasia
FGFR3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2809858 rs_745863884

3 SubmittersRCV002236415RCV003989755RCV004533982
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) SNV
Germline		 Chr4:1803792 Pathogenic/Likely pathogenic Condition: not provided
Achondroplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355978425 rs_199702395

2 SubmittersRCV002651792RCV003404135
NM_000142.5(FGFR3):c.1075+95C>G SNV
Germline		 Chr4:1803931 Conflicting classifications of pathogenicity Achondroplasia
Hypochondroplasia
Skeletal dysplasia
Condition: not provided
Achondroplasia
Hypochondroplasia		 Criteria Provided
Conflicting Classifications
 CA2695198360 rs_2546818546

5 SubmittersRCV003444541RCV005623109RCV005626820RCV004780554RCV005254792