Total 21 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
Condition: not provided
Multiple epiphyseal dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120170 rs_137852655

4 SubmittersRCV000009772RCV000033890RCV002223755RCV003989283
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
not specified
Hypochondroplasia
Connective tissue disorder
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129944 rs_28931614

46 SubmittersRCV000017724RCV000029207RCV000255750RCV000763121RCV001266979RCV001731310RCV001807732RCV002276551RCV003227605RCV004545731
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV
Germline		 Chr4:1804392 Pathogenic Achondroplasia
Condition: not provided
Hypochondroplasia
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280218 rs_28931614

11 SubmittersRCV000017725RCV000727147RCV000987394RCV004532375
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 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.1620C>A (p.Asn540Lys) SNV
Germline		 Chr4:1805644 Pathogenic Hypochondroplasia
Condition: not provided
Achondroplasia
Neurodevelopmental delay
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341410 rs_28933068

28 SubmittersRCV000017740RCV000255928RCV000353403RCV002273932RCV004541008
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341412 rs_28933068

26 SubmittersRCV000017741RCV000255372RCV000415460RCV000622950RCV000763122RCV001332222RCV001804740RCV002276553
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.1619A>G (p.Asn540Ser) SNV
Germline		 Chr4:1805643 Conflicting classifications of pathogenicity Hypochondroplasia
Inborn genetic diseases
Achondroplasia
Neurodevelopmental delay
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA341420 rs_77722678

10 SubmittersRCV000017758RCV000623459RCV002262566RCV002273934RCV001269614
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) SNV
Germline		 Chr4:1801930 Pathogenic/Likely 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
Achondroplasia
9 conditions
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341425 rs_121913116

4 SubmittersRCV000017769RCV001334259RCV000850610RCV002513086
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.616-6G>A SNV
Germline		 Chr4:1801614 Conflicting classifications of pathogenicity not specified
Achondroplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2809904 rs_17883400

4 SubmittersRCV000245965RCV001334260RCV000960660
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
 rs_1597583989

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

1 SubmittersRCV001806350
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) SNV
Germline		 Chr4:1804437 Likely pathogenic Achondroplasia Criteria Provided
Single Submitter
 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
 rs_745863884

3 SubmittersRCV002236415RCV003989755RCV004533982
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) SNV
Germline		 Chr4:1803792 Conflicting classifications of pathogenicity Condition: not provided
Achondroplasia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002651792RCV003404135
NM_000142.5(FGFR3):c.1075+95C>G SNV
Germline		 Chr4:1803931 Pathogenic Achondroplasia
Hypochondroplasia		 Criteria Provided
Single Submitter

1 SubmittersRCV003444541