Total 23 pathogenic variants reported for Hypochondroplasia 
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.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
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Muenke syndrome
Intellectual disability
Crouzon syndrome-acanthosis nigricans syndrome
Thanatophoric dysplasia type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129944 rs_28931614

60 SubmittersRCV000017724RCV000029207RCV000255750RCV000763121RCV001266979RCV001807732RCV002276551RCV003227605RCV004545731RCV004783725RCV004798732RCV005624694RCV006451899RCV006454634
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

13 SubmittersRCV000017725RCV000727147RCV000987394RCV004532375
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
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341410 rs_28933068

36 SubmittersRCV000017740RCV000255928RCV000353403RCV002273932RCV004541008RCV004786271RCV006342076
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV
Germline		 Chr4:1805644 Pathogenic/Likely pathogenic Hypochondroplasia
Short stature
Condition: not provided
Inborn genetic diseases
14 conditions
Achondroplasia
Larsen syndrome
Connective tissue disorder
FGFR3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341412 rs_28933068

31 SubmittersRCV000017741RCV000415460RCV000255372RCV000622950RCV000763122RCV001332222RCV001804740RCV002276553RCV004737156
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
7 conditions
Inborn genetic diseases
Hypochondroplasia
Achondroplasia
Abnormality of the nervous system
FGFR3-related chondrodysplasia
Muenke syndrome
Achondroplasia
Crouzon syndrome-acanthosis nigricans syndrome
Thanatophoric dysplasia type 1
Hypochondroplasia
FGFR3-related disorder
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA159700 rs_4647924

47 SubmittersRCV000017746RCV000017747RCV000121075RCV000193831RCV000436385RCV000626772RCV000622712RCV000987393RCV001334261RCV001813993RCV002273933RCV003483434RCV004554603RCV005003375
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) SNV
Germline		 Chr4:1806163 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
14 conditions
Hypochondroplasia
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126382 rs_121913105

8 SubmittersRCV000017750RCV001574416RCV002496392RCV002310592RCV004558267
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) SNV
Germline		 Chr4:1805643 Pathogenic/Likely pathogenic Hypochondroplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341415 rs_77722678

6 SubmittersRCV000017753RCV001549822
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) SNV
Germline		 Chr4:1805636 Conflicting classifications of pathogenicity Hypochondroplasia
Condition: not provided
Muenke syndrome		 Criteria Provided
Conflicting Classifications
 CA341417 rs_80053154

9 SubmittersRCV000017754RCV001269544RCV004798734
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) SNV
Germline		 Chr4:1806164 Pathogenic Hypochondroplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA341419 rs_28928868

3 SubmittersRCV000017755RCV003556038
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) SNV
Germline		 Chr4:1806164 Pathogenic/Likely pathogenic Hypochondroplasia
Condition: not provided
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280221 rs_28928868

7 SubmittersRCV000017756RCV001269938RCV002496393
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) SNV
Germline/somatic		 Chr4:1806162 Pathogenic Hypochondroplasia
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170755 rs_78311289

8 SubmittersRCV000017757RCV000144153RCV002228032
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) SNV
Germline		 Chr4:1805643 Pathogenic/Likely pathogenic Hypochondroplasia
Inborn genetic diseases
Condition: not provided
Achondroplasia
Neurodevelopmental delay		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341420 rs_77722678

12 SubmittersRCV000017758RCV000623459RCV001269614RCV002262566RCV002273934
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.833A>G (p.Tyr278Cys) SNV
Germline		 Chr4:1801928 Pathogenic/Likely pathogenic Hypochondroplasia
Short stature
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341422 rs_121913115

6 SubmittersRCV000017768RCV000415056RCV002513085
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.1024G>T (p.Gly342Cys) SNV
Germline		 Chr4:1803785 Pathogenic Hypochondroplasia No Assertion Criteria Provided
 CA345154 rs_587778775

1 SubmittersRCV000056066
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV
Germline		 Chr4:1806163 Pathogenic Hypochondroplasia
14 conditions
FGFR3-related disorder
Condition: not provided
FGFR3-related chondrodysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345185 rs_121913105

10 SubmittersRCV000056100RCV000763123RCV001254893RCV001543530RCV004786329
NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) SNV
Germline		 Chr4:1803813 Pathogenic Hypochondroplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355978481 rs_1057517964

3 SubmittersRCV001775150RCV002234974
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) SNV
Germline		 Chr4:1801435 Conflicting classifications of pathogenicity Hypochondroplasia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2809862 rs_529408918

6 SubmittersRCV000987392RCV001572765RCV002549680
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) SNV
Germline		 Chr4:1803804 Pathogenic Hypochondroplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA355978461 rs_1044021305

2 SubmittersRCV002052286RCV002550512
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) SNV
Germline		 Chr4:1805767 Conflicting classifications of pathogenicity Hypochondroplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA355981676 rs_1474187970

4 SubmittersRCV002245545RCV002274252
NM_000142.5(FGFR3):c.977T>G (p.Leu326Trp) SNV
Germline		 Chr4:1803738 Likely pathogenic Hypochondroplasia Criteria Provided
Single Submitter
 CA355978222 rs_2546817560

1 SubmittersRCV003228715
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2695198360 rs_2546818546

6 SubmittersRCV003444541RCV005623109RCV005626820RCV004780554RCV005254792RCV006342976