| - GRCh37:
- Chr4:1808331
- GRCh38:
- Chr4:1806604
| FGFR3 | G697C, G699C, G585C, R674L, G698C | Carcinoma, Urinary bladder carcinoma | Likely pathogenic
(May 13, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:1806089
- GRCh38:
- Chr4:1804362
| FGFR3 | G370C, G372C | not provided, Thanatophoric dysplasia type 1 | Pathogenic
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1807889
- GRCh38:
- Chr4:1806162
| FGFR3 | K650Q, K652Q, K651Q, K538Q | not provided, Hypochondroplasia | Pathogenic
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806099
- GRCh38:
- Chr4:1804372
| FGFR3 | Y373C, Y375C | not provided, Thanatophoric dysplasia type 1 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1803568
- GRCh38:
- Chr4:1801841
| FGFR3 | S249C | Malignant tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Epidermal nevus,
Muenke syndrome, Levy-Hollister syndrome, Achondroplasia,
Cervix cancer, Malignant tumor of urinary bladder, Hypochondroplasia,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Carcinoma of colonThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Connective tissue disorder,
FGFR3-related condition, not provided, Malignant tumor of urinary bladder,
Cervix cancer, Thanatophoric dysplasia type 1, ...see more | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806092
- GRCh38:
- Chr4:1804365
| FGFR3 | S371C, S373C | not specified, not provided | Pathogenic
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:534289
- GRCh38:
- Chr11:534289
| HRAS, LRRC56 | G12C | Epidermal nevus, Linear nevus sebaceous syndrome, Large congenital melanocytic nevus,
Costello syndrome, Malignant tumor of urinary bladder, Thyroid cancer, nonmedullary, 2,
not provided, Costello syndrome | Pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |