| - GRCh37:
- Chr4:55604628
- GRCh38:
- Chr4:54738462
| KIT | R946*, R942*, R941*, R943*, R945*, R947* | Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor, KIT-related condition,
Mastocytosis, Malignant tumor of testis, Gastrointestinal stroma tumor,
Partial albinism, Acute myeloid leukemia | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1801071
- GRCh38:
- Chr4:1799344
| FGFR3 | G67D | Crouzon syndrome-acanthosis nigricans syndrome, Achondroplasia, Cervix cancer,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Malignant tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,
Thanatophoric dysplasia type 1, Malignant tumor of urinary bladder, Thanatophoric dysplasia, type 2,
Levy-Hollister syndrome, Muenke syndromeHypochondroplasia,
Epidermal nevus, Carcinoma of colon, not provided,
...see more | Conflicting interpretations of pathogenicity
(May 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1808395
- GRCh38:
- Chr4:1806668
| FGFR3 | N718S, N720S, N719S, N606S | Inborn genetic diseases, not provided, Thanatophoric dysplasia, type 2,
Malignant tumor of urinary bladder, Epidermal nevus, Carcinoma of colon,
Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndrome,
Thanatophoric dysplasia type 1, HypochondroplasiaMalignant tumor of testis,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Cervix cancer, Muenke syndrome,
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, ...see more | Uncertain significance
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1808017
- GRCh38:
- Chr4:1806290
| FGFR3 | A667S, A665S, A553S, A666S | not provided, Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome,
Levy-Hollister syndrome, Muenke syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndromeMalignant tumor of testis,
Malignant tumor of urinary bladder, Hypochondroplasia, Carcinoma of colon,
...see more | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55561912
- GRCh38:
- Chr4:54695746
| KIT | H101R | Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor, Malignant tumor of testis,
Mastocytosis, Acute myeloid leukemia, Partial albinism,
Gastrointestinal stroma tumor | Uncertain significance
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604692
- GRCh38:
- Chr4:54738526
| KIT | S967C, S963C, S962C, S964C, S966C, S968C | Gastrointestinal stroma tumor, Gastrointestinal stroma tumor, Malignant tumor of testis,
Mastocytosis, Acute myeloid leukemia, Partial albinism
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55595567
- GRCh38:
- Chr4:54729401
| KIT | R686H, R682H, R683H, R687H | Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor,
Malignant tumor of testis, Mastocytosis, Acute myeloid leukemia,
Partial albinism | Uncertain significance
(Nov 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806119
- Chr4:1806111
- GRCh38:
- Chr4:1804392
- Chr4:1804384
| FGFR3, FGFR3 | G380R, G382R, L377R, L379R | Achondroplasia | Pathogenic
(Feb 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr4:55561711
- GRCh38:
- Chr4:54695545
| KIT | P34L | not provided, Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor,
Malignant tumor of testis | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55604655
- GRCh38:
- Chr4:54738489
| KIT | V955L, V951L, V950L, V952L, V954L, V956L | Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Acute myeloid leukemia,
Gastrointestinal stroma tumor, Malignant tumor of testis, Mastocytosis,
Partial albinism | Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55595614
- GRCh38:
- Chr4:54729448
| KIT | L702V, L698V, L699V, L703V | Hereditary cancer-predisposing syndrome, Acute myeloid leukemia, Gastrointestinal stroma tumor,
Malignant tumor of testis, Mastocytosis, Partial albinism,
Gastrointestinal stroma tumor | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604679
- GRCh38:
- Chr4:54738513
| KIT | T963A, T959A, T958A, T960A, T962A, T964A | Gastrointestinal stroma tumor, Acute myeloid leukemia, Gastrointestinal stroma tumor,
Malignant tumor of testis, Mastocytosis, Partial albinism
| Uncertain significance
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55598097
- GRCh38:
- Chr4:54731931
| KIT | D765G, D761G, D760G, D762G, D764G, D766G | Gastrointestinal stroma tumor, Mastocytosis, Gastrointestinal stroma tumor,
Partial albinism, Acute myeloid leukemia, Malignant tumor of testis,
Partial albinism | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1226539
- GRCh38:
- Chr19:1226540
| STK11 | Q399K | Carcinoma of pancreas, Peutz-Jeghers syndrome, Malignant tumor of testis,
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome | Uncertain significance
(Jul 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604673
- GRCh38:
- Chr4:54738507
| KIT | G961S, G957S, G956S, G958S, G960S, G962S | Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Malignant tumor of testis,
Mastocytosis, Acute myeloid leukemia, Gastrointestinal stroma tumor,
Partial albinism | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55561810
- GRCh38:
- Chr4:54695644
| KIT | T67S | Hereditary cancer-predisposing syndrome, not specified, Mastocytosis,
Gastrointestinal stroma tumor, Gastrointestinal stroma tumor, Mastocytosis,
Malignant tumor of testis, Acute myeloid leukemia, Partial albinism,
not provided, Partial albinism ...see more | Conflicting interpretations of pathogenicity
(Jul 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55593396
- GRCh38:
- Chr4:54727230
| KIT | P518L, P514L, P515L, P519L | Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor,
Mastocytosis, Acute myeloid leukemia, Malignant tumor of testis,
Partial albinism | Uncertain significance
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1226587
- GRCh38:
- Chr19:1226588
| STK11 | R415G | not provided, Malignant tumor of testis, Carcinoma of pancreas,
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
| Uncertain significance
(Sep 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1220614
- GRCh38:
- Chr19:1220615
| STK11 | R211Q | not provided, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome,
Breast and/or ovarian cancer, Malignant tumor of testis, Peutz-Jeghers syndrome,
Carcinoma of pancreas, not specified | Conflicting interpretations of pathogenicity
(Apr 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1220701
- GRCh38:
- Chr19:1220702
| STK11 | S240W | Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome, Malignant tumor of testis,
Peutz-Jeghers syndrome, Carcinoma of pancreas | Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1223075
- GRCh38:
- Chr19:1223076
| LOC130062899, STK11 | V338M | STK11-related condition, Hereditary cancer-predisposing syndrome, Carcinoma of pancreas,
Peutz-Jeghers syndrome, Malignant tumor of testis, not provided,
Peutz-Jeghers syndrome, Familial adenomatous polyposis 2 | Conflicting interpretations of pathogenicity
(May 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1219417
- GRCh38:
- Chr19:1219418
| STK11 | | Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Carcinoma of pancreas,
Peutz-Jeghers syndrome, Malignant tumor of testis, not provided,
Peutz-Jeghers syndrome | Conflicting interpretations of pathogenicity
(Sep 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1220473
- GRCh38:
- Chr19:1220474
| STK11 | T189I | Hereditary cancer-predisposing syndrome, Carcinoma of pancreas, Peutz-Jeghers syndrome,
Malignant tumor of testis, not specified, not provided,
Hereditary breast ovarian cancer syndrome, Peutz-Jeghers syndrome | Conflicting interpretations of pathogenicity
(Oct 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:1807890
- GRCh38:
- Chr4:1806163
| FGFR3 | K650T, K652T, K538T, K651T | FGFR3-related condition, not provided, FGFR3-related disorder,
Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Muenke syndrome,
Malignant tumor of urinary bladder, Cervix cancer, Hypochondroplasia,
Crouzon syndrome-acanthosis nigricans syndrome, Levy-Hollister syndromeThanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Epidermal nevus, Carcinoma of colon,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis, ...see more | Pathogenic
(Aug 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:85733524
- GRCh38:
- Chr1:85267841
| BCL10 | T163M, T152M | Malignant tumor of testis | Pathogenic
(Nov 15, 1999) | no assertion criteria provided |
| - 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:
- Chr4:1807371
- GRCh38:
- Chr4:1805644
| FGFR3 | N540K, N542K, N541K, N428K | Connective tissue disorder, 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 syndromeCarcinoma of colon,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
Inborn genetic diseases, not provided, Larsen syndrome,
Hypochondroplasia, Achondroplasia, Short stature,
...see more | Pathogenic/Likely pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1803564
- GRCh38:
- Chr4:1801837
| FGFR3 | R248C | FGFR3-related chondrodysplasia, FGFR3-related disorder, 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, HypochondroplasiaCamptodactyly-tall stature-scoliosis-hearing loss syndrome,
Carcinoma of colon, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2,
Crouzon syndrome-acanthosis nigricans syndrome, Connective tissue disorder, FGFR3-related condition,
not provided, Cervix cancer, Thanatophoric dysplasia, type 2,
Thanatophoric dysplasia type 1, Achondroplasia, Hamartoma,
Lower limb undergrowth, Upper limb undergrowth, Bell-shaped thorax,
Growth delay, Short stature, Disproportionate short-limb short stature,
Lethal short-limbed short stature, Bowed humerus, Short ribs,
Narrow chest, Skeletal dysplasia, Femoral bowing,
Small for gestational age, ...see more | Pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1806119
- GRCh38:
- Chr4:1804392
| FGFR3 | G380R, G382R | Connective tissue disorder, 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 syndromeCarcinoma of colon,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
FGFR3-Related Disorders, Inborn genetic diseases, not specified,
not provided, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Hypochondroplasia,
Achondroplasia, ...see more | Pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1220395
- GRCh38:
- Chr19:1220396
| STK11 | G163D | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 1, 2012) | criteria provided, single submitter |