| - GRCh37:
- Chr5:112151220
- GRCh38:
- Chr5:112815523
| APC | T270I, T298I, T260I, T263I, T288I, T5I, T229I | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:202074141
- GRCh38:
- Chr2:201209418
| CASP10 | T424I, T381I, T357I | Autoimmune lymphoproliferative syndrome type 2A, Neoplasm of stomach, not provided,
Stomach cancer, Lymphoma, non-Hodgkin, familial, Autoimmune lymphoproliferative syndrome type 2A
| Uncertain significance
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:202093667
- GRCh38:
- Chr2:201228944
| CASP10 | F476C, F433C | Neoplasm of stomach | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123276928
- GRCh38:
- Chr10:121517414
| FGFR2 | R330Q, R102Q, R241Q, R215Q | Pfeiffer syndrome, Neoplasm of stomach, Acrocephalosyndactyly type I,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Craniofacial dysostosis, Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray typeCraniosynostosis syndrome,
Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
not provided, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
...see more | Conflicting interpretations of pathogenicity
(Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112173481
- GRCh38:
- Chr5:112837784
| APC | M712I, M730I, M570I, M639I, M748I, M604I, M705I, M447I, M702I, M629I, M671I, M689I, M740I | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, not provided
| Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178738
- GRCh38:
- Chr5:112843041
| APC | V2465I, V2483I, V2323I, V2392I, V2442I, V2200I, V2357I, V2382I, V2424I, V2455I, V2458I, V2493I, V2501I | Inborn genetic diseases | Uncertain significance
(Mar 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:202052503
- GRCh38:
- Chr2:201187780
| CASP10 | S141* | Neoplasm of stomach | Uncertain significance
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:112175158
- GRCh38:
- Chr5:112839461
| APC | C1271*, C1289*, C1006*, C1129*, C1230*, C1248*, C1307*, C1163*, C1198*, C1264*, C1188*, C1261*, C1299* | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, not provided,
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
| Pathogenic
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178917561
- GRCh38:
- Chr3:179199773
| PIK3CA | V146I | Cowden syndrome, Seborrheic keratosis, CLAPO syndrome,
CLOVES syndrome, Neoplasm of stomach, Congenital macrodactylia,
Epidermal nevus, Neoplasm of ovary, Carcinoma of colon,
Familial cancer of breast, Cowden syndrome 5Hepatocellular carcinoma,
Megalencephaly-capillary malformation-polymicrogyria syndrome, Lung carcinoma, not provided,
...see more | Uncertain significance
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178027
- GRCh38:
- Chr5:112842330
| APC | V2246I, V2228I, V2218I, V2256I, V2086I, V2120I, V2187I, V2264I, V2221I, V1963I, V2145I, V2155I, V2205I | Hereditary cancer-predisposing syndrome, not provided, Neoplasm of stomach,
Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Aug 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123274768
- GRCh38:
- Chr10:121515254
| FGFR2 | G384R, G385R, G156R, G295R, G269R, G296R, G272R | Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Neoplasm of stomach,
Bent bone dysplasia syndrome 1, Acrocephalosyndactyly type I, Levy-Hollister syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Familial scaphocephaly syndrome, McGillivray type,
Saethre-Chotzen syndrome, Jackson-Weiss syndromeFGFR2-related craniosynostosis,
...see more | Pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178457
- GRCh38:
- Chr5:112842760
| APC | S2371N, S2389N, S2399N, S2263N, S2288N, S2298N, S2330N, S2106N, S2348N, S2361N, S2364N, S2229N, S2407N | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Hereditary cancer-predisposing syndrome,
not provided, Familial adenomatous polyposis 1 | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178317
- GRCh38:
- Chr5:112842620
| APC | L2342F, L2324F, L2241F, L2314F, L2352F, L2182F, L2251F, L2317F, L2360F, L2283F, L2301F, L2059F, L2216F | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Neoplasm of stomach | Uncertain significance
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176138
- GRCh38:
- Chr5:112840441
| APC | K1598I, K1616I, K1490I, K1515I, K1525I, K1557I, K1591I, K1626I, K1575I, K1456I, K1333I, K1588I, K1634I | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 1 | Uncertain significance
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112043211
- GRCh38:
- Chr5:112707514
| APC, LOC129994371 | | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112043287
- GRCh38:
- Chr5:112707590
| APC | | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112043415
- GRCh38:
- Chr5:112707718
| APC | M1V | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112170666
- GRCh38:
- Chr5:112834969
| APC | V570I, V588I, V305I, V428I, V487I, V497I, V560I, V529I, V606I, V462I, V547I, V563I, V598I | Ovarian cancer, Familial adenomatous polyposis 1, APC-related condition,
Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma, Desmoid disease, hereditary,
Carcinoma of colon, Familial adenomatous polyposis 1, Neoplasm of stomach,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Oct 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:123325014
- GRCh38:
- Chr10:121565500
| FGFR2 | Y105C | not provided, Bent bone dysplasia syndrome 1, Craniofacial dysostosis,
Beare-Stevenson cutis gyrata syndrome, Neoplasm of stomach, Levy-Hollister syndrome,
Pfeiffer syndrome, Saethre-Chotzen syndrome, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisCraniofacial dysostosis,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, FGFR2-related craniosynostosis,
...see more | Pathogenic/Likely pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45797184-45797185
- GRCh38:
- Chr1:45331512-45331513
| MUTYH | P383fs, P408fs, P411fs, P398fs, P268fs, P291fs, P384fs, P394fs | Neoplasm of stomach, Familial adenomatous polyposis 2 | Likely pathogenic
(Nov 12, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr5:112137037
- GRCh38:
- Chr5:112801340
| APC | Q246R, Q264R, Q239R, Q274R, Q205R, Q236R | Hereditary cancer-predisposing syndrome, Carcinoma of colon, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Neoplasm of stomach, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, not provided | Conflicting interpretations of pathogenicity
(Jun 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:178922361
- GRCh38:
- Chr3:179204573
| PIK3CA | P377R | PIK3CA-related condition, Cowden syndrome, Seborrheic keratosis,
Megalencephaly-capillary malformation-polymicrogyria syndrome, CLAPO syndrome, CLOVES syndrome,
Neoplasm of stomach, Cowden syndrome 5, Familial cancer of breast,
Lung carcinoma, Congenital macrodactyliaHepatocellular carcinoma,
Epidermal nevus, Neoplasm of ovary, Carcinoma of colon,
...see more | Uncertain significance
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:41266121
- GRCh38:
- Chr3:41224630
| CTNNB1, LOC126806658 | T40A, T33A | Neoplasm of stomach | Likely pathogenic
(Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266112
- GRCh38:
- Chr3:41224621
| CTNNB1, LOC126806658 | S37P, S30P | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Neoplasm of stomach,
Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma,
Neoplasm of uterine cervix, Gastric adenocarcinoma, Transitional cell carcinoma of the bladder,
Esophageal carcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr1:115258745
- GRCh38:
- Chr1:114716124
| NRAS | G13S | Neoplasm of stomach | Likely pathogenic
(Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr12:56481922
- GRCh38:
- Chr12:56088138
| ERBB3 | G284R | Neoplasm of stomach, Colonic neoplasm | Likely pathogenic
(Dec 26, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266113
- GRCh38:
- Chr3:41224622
| CTNNB1, LOC126806658 | S37Y, S30Y | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Gastric adenocarcinoma,
Neoplasm of stomach, Medulloblastoma, Hepatocellular carcinoma,
Lung adenocarcinoma, Melanoma, Neoplasm of uterine cervix,
Transitional cell carcinoma of the bladder, Esophageal carcinoma ...see more | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr10:123276904
- GRCh38:
- Chr10:121517390
| FGFR2 | G338E, G249E, G110E, G223E | FGFR2-related craniosynostosis, Craniofacial dysostosis, Bent bone dysplasia syndrome 1,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Neoplasm of stomach,
Acrocephalosyndactyly type I, Pfeiffer syndromeBeare-Stevenson cutis gyrata syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, ...see more | Pathogenic/Likely pathogenic
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45798843
- GRCh38:
- Chr1:45333171
| MUTYH | | not provided, Familial adenomatous polyposis 2, Pilomatrixoma,
Neoplasm of stomach, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
| Pathogenic
(May 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112151291
- GRCh38:
- Chr5:112815594
| APC | | Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Desmoid disease, hereditary, Hepatocellular carcinoma, Familial adenomatous polyposis 1,
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 | Pathogenic/Likely pathogenic
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112173765
- GRCh38:
- Chr5:112838068
| APC | Y807C, Y825C, Y734C, Y797C, Y766C, Y800C, Y542C, Y665C, Y699C, Y724C, Y835C, Y843C, Y784C | Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Desmoid disease, hereditary, Hepatocellular carcinoma, not specified,
Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Apr 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112163630
- GRCh38:
- Chr5:112827933
| APC | T500M, T518M, T417M, T477M, T493M, T528M, T536M, T235M, T358M, T392M, T427M, T459M, T490M | Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Desmoid disease, hereditary, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
not provided, Familial adenomatous polyposis 1 | Uncertain significance
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112090682
- GRCh38:
- Chr5:112754985
| APC | N32S | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
not specified | Conflicting interpretations of pathogenicity
(Nov 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112155044
- GRCh38:
- Chr5:112819347
| APC | | Hereditary cancer-predisposing syndrome, APC-related condition, not provided,
Familial adenomatous polyposis 1, Desmoid disease, hereditary, Familial adenomatous polyposis 1,
Neoplasm of stomach, Hepatocellular carcinoma, Carcinoma of colon
| Pathogenic/Likely pathogenic
(Feb 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112179753
- GRCh38:
- Chr5:112844056
| APC | D2803G, D2821G, D2780G, D2793G, D2839G, D2661G, D2695G, D2831G, D2762G, D2796G, D2538G, D2720G, D2730G | not provided, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1,
Hereditary cancer-predisposing syndrome, Desmoid disease, hereditary, Carcinoma of colon,
Hepatocellular carcinoma, Familial adenomatous polyposis 1, Neoplasm of stomach,
not specified | Conflicting interpretations of pathogenicity
(Feb 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112163683
- GRCh38:
- Chr5:112827986
| APC | E518K, E536K, E435K, E445K, E495K, E508K, E376K, E410K, E511K, E554K, E253K, E477K, E546K | Hereditary cancer-predisposing syndrome, not specified, Familial adenomatous polyposis 1,
not provided, Desmoid disease, hereditary, Carcinoma of colon,
Hepatocellular carcinoma, Familial adenomatous polyposis 1, Neoplasm of stomach
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:68847374
- GRCh38:
- Chr16:68813471
| CDH1 | N432K | Ovarian cancer, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma,
not specified | Conflicting interpretations of pathogenicity
(Jun 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112177548
- GRCh38:
- Chr5:112841851
| APC | P2068R, P2086R, P1985R, P1995R, P2058R, P1803R, P2045R, P2096R, P1960R, P2027R, P2061R, P1926R, P2104R | Carcinoma of colon, Neoplasm of stomach, Hepatocellular carcinoma,
Desmoid disease, hereditary, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1,
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112151204
- GRCh38:
- Chr5:112815507
| APC | R265*, R283*, R255*, R224*, R258*, R293* | Familial adenomatous polyposis 1 | Pathogenic
(Feb 18, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112090657
- GRCh38:
- Chr5:112754960
| APC | R24* | Hereditary cancer-predisposing syndrome, Desmoid disease, hereditary, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
not provided, Familial multiple polyposis syndrome, not specified,
Familial adenomatous polyposis 1 | Pathogenic/Likely pathogenic
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176396
- GRCh38:
- Chr5:112840699
| APC | G1684E, G1702E, G1542E, G1643E, G1712E, G1601E, G1611E, G1674E, G1661E, G1419E, G1576E, G1677E, G1720E | not specified, not provided, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 1, Carcinoma of colon, Neoplasm of stomach,
Hepatocellular carcinoma, Desmoid disease, hereditary, Familial adenomatous polyposis 1,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:45797519
- GRCh38:
- Chr1:45331847
| MUTYH | P334A, P306A, P317A, P321A, P214A, P331A, P191A, P307A | not specified, not provided, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 2, Pilomatrixoma, Neoplasm of stomach,
Familial adenomatous polyposis 2 | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45797839
- GRCh38:
- Chr1:45332167
| MUTYH | R311K, R297K, R191K, R283K, R284K, R308K, R168K, R294K, R298K | Hereditary cancer-predisposing syndrome, Pilomatrixoma, Familial adenomatous polyposis 2,
Neoplasm of stomach, not specified, not provided,
Familial adenomatous polyposis 2 | Uncertain significance
(Oct 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45799086
- GRCh38:
- Chr1:45333414
| MUTYH | R116Q, R103Q, R89Q, R88Q, R99Q, R113Q | Hereditary cancer-predisposing syndrome, not provided, Neoplasm of stomach,
Pilomatrixoma, Familial adenomatous polyposis 2, not specified,
Familial adenomatous polyposis 2 | Uncertain significance
(Mar 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112179567
- GRCh38:
- Chr5:112843870
| APC | R2741H, R2759H, R2599H, R2718H, R2731H, R2658H, R2668H, R2777H, R2633H, R2700H, R2769H, R2476H, R2734H | APC-related condition, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Apr 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112177930
- GRCh38:
- Chr5:112842233
| APC | M2195I, M2213I, M1930I, M2188I, M2231I, M2053I, M2172I, M2185I, M2087I, M2112I, M2223I, M2122I, M2154I | APC-Associated Polyposis Disorders, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Feb 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112179680
- GRCh38:
- Chr5:112843983
| APC | S2779G, S2797G, S2514G, S2637G, S2706G, S2738G, S2671G, S2696G, S2769G, S2807G, S2756G, S2772G, S2815G | APC-Associated Polyposis Disorders, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112116592
- GRCh38:
- Chr5:112780895
| APC | R213*, R223*, R154*, R188* | Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
| Pathogenic
(Apr 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45798117
- GRCh38:
- Chr1:45332445
| MUTYH | R245H, R231H, R102H, R125H, R217H, R242H, R218H, R228H, R232H | MUTYH-related condition, Diffuse midline glioma, H3 K27-altered, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 2, Pilomatrixoma, Neoplasm of stomach,
not provided, Familial adenomatous polyposis 2, Breast carcinoma
| Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45797160
- GRCh38:
- Chr1:45331488
| MUTYH | A419T, A405T, A406T, A299T, A391T, A416T, A276T, A392T, A402T | Familial adenomatous polyposis 2, Neoplasm of stomach, Pilomatrixoma,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 2 | Conflicting interpretations of pathogenicity
(Apr 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112177092
- GRCh38:
- Chr5:112841395
| APC | P1934L, P1916L, P1909L, P1651L, P1808L, P1833L, P1875L, P1906L, P1944L, P1774L, P1843L, P1952L, P1893L | APC-related condition, APC-Associated Polyposis Disorders, Neoplasm of stomach,
Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial multiple polyposis syndromeFamilial adenomatous polyposis 1,
Colorectal cancer, susceptibility to, ...see more | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:45797707
- GRCh38:
- Chr1:45332035
| MUTYH | V329M, V315M, V209M, V301M, V302M, V312M, V186M, V316M, V326M | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Pilomatrixoma,
Neoplasm of stomach, not specified, not provided,
Familial adenomatous polyposis 2 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:45798439
- GRCh38:
- Chr1:45332767
| MUTYH | R191Q, R177Q, R163Q, R174Q, R48Q, R164Q, R178Q, R188Q, R71Q | Hereditary cancer-predisposing syndrome, not specified, Pilomatrixoma,
Neoplasm of stomach, Familial adenomatous polyposis 2, not provided,
Familial adenomatous polyposis 2 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:45800165
- GRCh38:
- Chr1:45334493
| MUTYH | R19*, R5* | Hereditary cancer-predisposing syndrome, Pilomatrixoma, Neoplasm of stomach,
Familial adenomatous polyposis 2, not provided, Familial adenomatous polyposis 2
| Pathogenic
(Sep 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:45796213
- GRCh38:
- Chr1:45330541
| MUTYH | Q498R, Q355R, Q470R, Q481R, Q378R, Q471R, Q485R, Q495R | Hereditary cancer-predisposing syndrome, Pilomatrixoma, Neoplasm of stomach,
Familial adenomatous polyposis 2, not provided, Familial adenomatous polyposis 2
| Uncertain significance
(May 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577091
- GRCh38:
- Chr17:7673773
| TP53 | R151C, R244C, R283C, R124C | Li-Fraumeni syndrome | Likely benign
(Mar 18, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112128143
- GRCh38:
- Chr5:112792446
| APC | R216*, R226*, R157*, R191* | Neoplasm of stomach, Hepatocellular carcinoma, Desmoid disease, hereditary,
Carcinoma of colon, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome,
not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
| Pathogenic
(Apr 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176654
- GRCh38:
- Chr5:112840957
| APC | R1770H, R1788H, R1628H, R1662H, R1697H, R1687H, R1505H, R1798H, R1806H, R1729H, R1747H, R1760H, R1763H | Carcinoma of colon, Desmoid disease, hereditary, Familial adenomatous polyposis 1,
Neoplasm of stomach, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
APC-Associated Polyposis Disorders, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Feb 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112128191
- GRCh38:
- Chr5:112792494
| APC | R232*, R173*, R207*, R242* | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1,
Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 ...see more | Pathogenic
(Apr 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112162854
- GRCh38:
- Chr5:112827157
| APC | | Familial adenomatous polyposis 1 | Benign
(Feb 19, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr16:68845646
- GRCh38:
- Chr16:68811743
| CDH1 | A298T | CDH1-related diffuse gastric and lobular breast cancer syndrome | Benign
(Aug 10, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr1:45796910
- GRCh38:
- Chr1:45331238
| MUTYH | R474C, R460C, R354C, R331C, R457C, R446C, R447C, R461C, R471C | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Pilomatrixoma,
Neoplasm of stomach, not specified, not provided,
Familial adenomatous polyposis 2 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175663
- GRCh38:
- Chr5:112839966
| APC | P1458S, P1440S, P1357S, P1367S, P1430S, P1468S, P1476S, P1175S, P1298S, P1399S, P1433S, P1332S, P1417S | Carcinoma of colon, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Hereditary cancer-predisposing syndrome,
not provided, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Feb 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112178327
- GRCh38:
- Chr5:112842630
| APC | P2346S, P2328S, P2063S, P2220S, P2287S, P2321S, P2255S, P2318S, P2364S, P2186S, P2245S, P2305S, P2356S | APC-Associated Polyposis Disorders, Carcinoma of colon, Hepatocellular carcinoma,
Desmoid disease, hereditary, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112178015
- GRCh38:
- Chr5:112842318
| APC | S2242G, S2224G, S2183G, S2252G, S2082G, S2116G, S2151G, S2201G, S2214G, S1959G, S2141G, S2217G, S2260G | APC-Associated Polyposis Disorders, Carcinoma of colon, Hepatocellular carcinoma,
Desmoid disease, hereditary, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 ...see more | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:178952084
- GRCh38:
- Chr3:179234296
| PIK3CA | H1047Y | PIK3CA related overgrowth syndrome, Congenital macrodactylia, Epidermal nevus,
Neoplasm of ovary, CLOVES syndrome, Familial cancer of breast,
Neoplasm of stomach, Megalencephaly-capillary malformation-polymicrogyria syndrome, Lung carcinoma,
CLAPO syndrome, Hepatocellular carcinomaSeborrheic keratosis,
Carcinoma of colon, Cowden syndrome 5, Cowden syndrome,
not provided, Megalencephaly-capillary malformation-polymicrogyria syndrome, CLOVES syndrome,
Non-small cell lung carcinoma, Segmental undergrowth associated with mainly venous malformation with capillary component, ...see more | Pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123274794
- GRCh38:
- Chr10:121515280
| FGFR2 | Y375C, Y376C, Y263C, Y147C, Y286C, Y287C, Y260C | FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Neoplasm of stomach, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndromeAcrocephalosyndactyly type I,
not provided, Beare-Stevenson cutis gyrata syndrome, ...see more | Pathogenic/Likely pathogenic
(Mar 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123279674
- GRCh38:
- Chr10:121520160
| FGFR2 | P253R, P138R, P164R, P25R | FGFR2-related condition, FGFR2-related craniosynostosis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Pfeiffer syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
Neoplasm of stomach, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Bent bone dysplasia syndrome 1, Saethre-Chotzen syndromeFamilial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Acrocephalosyndactyly type I, ...see more | Pathogenic/Likely pathogenic
(Aug 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276885
- GRCh38:
- Chr10:121517371
| FGFR2 | | Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Jackson-Weiss syndrome, Stomach cancer, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type IFGFR2-related disorder,
FGFR2-related craniosynostosis, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Jackson-Weiss syndrome, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Neoplasm of stomach, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Acrocephalosyndactyly type I,
Craniosynostosis syndrome, not provided, Pfeiffer syndrome,
Craniofacial dysostosis, Acrocephalosyndactyly type I, ...see more | Pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276892
- GRCh38:
- Chr10:121517378
| FGFR2 | C342Y, C253Y, C227Y, C114Y | FGFR2-related craniosynostosis, Craniosynostosis syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Craniofacial dysostosis, Pfeiffer syndrome,
Bent bone dysplasia syndrome 1, Neoplasm of stomachAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Levy-Hollister syndrome, not provided, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, ...see more | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:68867247
- GRCh38:
- Chr16:68833344
| CDH1 | V832M, V177M, V316M, V771M | CDH1-related diffuse gastric and lobular breast cancer syndrome | Benign
(Aug 10, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr1:45797228
- GRCh38:
- Chr1:45331556
| MUTYH | G382D, G396D, G276D, G393D, G369D, G368D, G383D, G253D, G379D | MUTYH-related condition, Hereditary cancer-predisposing syndrome, Neoplasm of stomach,
Pilomatrixoma, Familial adenomatous polyposis 2, not provided,
Familial colorectal cancer, Familial adenomatous polyposis 2, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas,
Ovarian carcinoma, See cases ...see more | Pathogenic/Likely pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:11856378
- GRCh38:
- Chr1:11796321
| MTHFR | A222V, A263V | methotrexate response - Toxicity | drug response
(Mar 24, 2021) | reviewed by expert panel |
| - GRCh37:
- Chr5:112174096
- GRCh38:
- Chr5:112838399
| APC | Y935*, Y917*, Y775*, Y809*, Y876*, Y953*, Y652*, Y834*, Y907*, Y945*, Y844*, Y894*, Y910* | Desmoid disease, hereditary, Neoplasm of stomach, Carcinoma of colon,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1,
Familial adenomatous polyposis 1, Colorectal cancer, susceptibility to ...see more | Pathogenic
(May 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112164586
- GRCh38:
- Chr5:112828889
| APC | R554*, R536*, R394*, R564*, R453*, R526*, R529*, R271*, R463*, R495*, R572*, R428*, R513* | Familial adenomatous polyposis 1, Neoplasm of stomach, Hepatocellular carcinoma,
Carcinoma of colon, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome,
not provided, Familial adenomatous polyposis 1, Familial multiple polyposis syndrome,
Familial adenomatous polyposis 1, Colorectal cancer, susceptibility to ...see more | Pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |