Total 50 pathogenic variants reported for Myelodysplastic syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
m.3242G>A	SNV Germline/somatic	ChrMT:3242	Pathogenic/Likely pathogenic	Myelodysplastic syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts	CA280144	rs_193303018	3 SubmittersRCV000010223 RCV000850687
m.6721T>C	SNV Germline	ChrMT:6721	Pathogenic	Myelodysplastic syndrome with ring sideroblasts	No Assertion Criteria Provided	CA120610	rs_199476127	1 SubmittersRCV000010303
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV Germline/somatic	Chr17:7674221	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Brainstem glioma Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Myelodysplastic syndrome Condition: not provided Squamous cell lung carcinoma Neoplasm Acute myeloid leukemia Lung adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck B-cell chronic lymphocytic leukemia Carcinoma of esophagus Multiple myeloma Uterine carcinosarcoma Hepatocellular carcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Medulloblastoma Neoplasm of ovary 7 conditions Small cell lung carcinoma Prostate adenocarcinoma Breast neoplasm Neoplasm of brain Lip and oral cavity carcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Choroid plexus carcinoma Gallbladder cancer Breast and/or ovarian cancer Congenital fibrosarcoma Gastric cancer Malignant lymphoma, large B-cell, diffuse Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000382	rs_121912651	30 SubmittersRCV000013140 RCV000168242 RCV000424308 RCV000115735 RCV000424415 RCV000425083 RCV000213057 RCV000434504 RCV000438698 RCV000418495 RCV000419032 RCV000419150 RCV000423184 RCV000423804 RCV000429884 RCV000431508 RCV000431689 RCV000435803 RCV000430543 RCV000444845 RCV000436398 RCV000440560 RCV000785485 RCV000735293 RCV000419857 RCV000425682 RCV000429777 RCV000433905 RCV001255674 RCV000440422 RCV000441091 RCV000441557 RCV000442243 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Sarcoma Breast neoplasm Small cell lung carcinoma Neoplasm of the large intestine Multiple myeloma Medulloblastoma Uterine carcinosarcoma Myelodysplastic syndrome Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neoplasm of brain Transitional cell carcinoma of the bladder B-cell chronic lymphocytic leukemia Acute myeloid leukemia Carcinoma of esophagus Hepatocellular carcinoma Pancreatic adenocarcinoma Neoplasm Glioblastoma Brainstem glioma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Condition: not provided Prostate adenocarcinoma Gastric adenocarcinoma Squamous cell carcinoma of the skin Neoplasm of ovary Squamous cell lung carcinoma Lung adenocarcinoma 11 conditions Lymphoma Familial cancer of breast Ductal carcinoma in situ Breast carcinoma Colorectal cancer Lip and oral cavity carcinoma Rhabdomyosarcoma Adrenal cortex carcinoma Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000387	rs_11540652	39 SubmittersRCV000013150 RCV000115736 RCV000197114 RCV000148913 RCV000419135 RCV000420303 RCV000421893 RCV000424869 RCV000427709 RCV000432587 RCV000437935 RCV000420727 RCV000421194 RCV000426359 RCV000432778 RCV000435533 RCV000417916 RCV000437291 RCV000438410 RCV000439963 RCV000426606 RCV000445244 RCV000433424 RCV000437518 RCV000444656 RCV000235221 RCV000426233 RCV000428591 RCV000430513 RCV000785344 RCV000441226 RCV000445235 RCV000763417 RCV000790860 RCV001270275 RCV001527465 RCV001554245 RCV001789749 RCV001255671 RCV001257519 RCV003996090 RCV003162244 RCV003332079 RCV003466852
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr11:534289	Pathogenic	Costello syndrome Myopathy, congenital, with excess of muscle spindles Epidermal nevus with urothelial cancer, somatic Condition: not provided Nevus sebaceous RASopathy Breast neoplasm Transitional cell carcinoma of the bladder Myelodysplastic syndrome Adenoid cystic carcinoma Carcinoma of esophagus Uterine carcinosarcoma Thyroid tumor Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the skin Nasopharyngeal neoplasm Multiple myeloma Neoplasm of the large intestine Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Neoplasm of uterine cervix Malignant melanoma of skin Lung adenocarcinoma Acute myeloid leukemia Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma Wooly hair nevus Rhabdomyosarcoma Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Lip and oral cavity carcinoma See cases HRAS-related disorder Noonan syndrome 1 Epidermal nevus	Reviewed By Expert Panel	CA122549	rs_104894229	40 SubmittersRCV000013435 RCV000013436 RCV000022796 RCV000081295 RCV000029209 RCV000149828 RCV000430608 RCV000435163 RCV000440863 RCV000440993 RCV000445039 RCV000417494 RCV000425542 RCV000432342 RCV000432945 RCV000422253 RCV000440297 RCV000443940 RCV000430725 RCV000433576 RCV000438022 RCV000419709 RCV000420366 RCV000422656 RCV000423310 RCV000424896 RCV000427772 RCV000430011 RCV000432984 RCV000440237 RCV000487471 RCV001257537 RCV001813185 RCV002453256 RCV001255689 RCV003156059 RCV003398496 RCV003450635 RCV003450636
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr11:534288	Pathogenic	Costello syndrome Adenoid cystic carcinoma Neoplasm of the large intestine Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Squamous cell carcinoma of the skin Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Condition: not provided Glioblastoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Nasopharyngeal neoplasm Neoplasm of uterine cervix Multiple myeloma Hepatocellular carcinoma Pancreatic adenocarcinoma Thyroid tumor Prostate adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Inborn genetic diseases Squamous cell carcinoma of the head and neck 6 conditions Breast neoplasm Acute myeloid leukemia Myelodysplastic syndrome Lung adenocarcinoma Noonan syndrome and Noonan-related syndrome Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA256486	rs_104894230	10 SubmittersRCV000013437 RCV000418547 RCV000422263 RCV000430806 RCV000417508 RCV000435619 RCV000423413 RCV000423622 RCV000207503 RCV000440663 RCV000425989 RCV000426130 RCV000428375 RCV000441501 RCV000444092 RCV000433266 RCV000445257 RCV000428172 RCV000433587 RCV000423741 RCV000425511 RCV000623953 RCV000432956 RCV000762848 RCV000435805 RCV000436832 RCV000442448 RCV000445090 RCV001813186 RCV001257536
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr11:534289	Pathogenic	Costello syndrome Nevus sebaceous Epidermal nevus RASopathy Condition: not provided Myelodysplastic syndrome Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin Thyroid tumor Ovarian serous cystadenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Acute myeloid leukemia Carcinoma of esophagus Neoplasm of uterine cervix Uterine carcinosarcoma Urinary bladder carcinoma Prostate adenocarcinoma Adenoid cystic carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Nasopharyngeal neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Breast neoplasm Papillary renal cell carcinoma, sporadic Gastric adenocarcinoma Multiple myeloma Malignant neoplasm of body of uterus 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA129948	rs_104894229	13 SubmittersRCV000013447 RCV000029211 RCV000032851 RCV000149829 RCV000212495 RCV000419553 RCV000421701 RCV000426992 RCV000429404 RCV000429096 RCV000431602 RCV000434677 RCV000422023 RCV000424380 RCV000436802 RCV000438707 RCV000437868 RCV000440052 RCV000443678 RCV000443826 RCV000444512 RCV000445233 RCV000431815 RCV000438902 RCV000418395 RCV000424087 RCV000427213 RCV000428012 RCV000436505 RCV000439243 RCV000762849
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	SNV Germline/somatic	Chr1:114716124	Likely pathogenic	Carcinoma of colon Large congenital melanocytic nevus Medulloblastoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Melanoma Multiple myeloma Myelodysplastic syndrome Non-Hodgkin lymphoma Acute myeloid leukemia Neoplasm of the large intestine Malignant melanoma of skin Noonan syndrome 6	Criteria Provided Single Submitter	CA151261	rs_121434595	4 SubmittersRCV000014913 RCV000114743 RCV000419545 RCV000419583 RCV000427817 RCV000424942 RCV000426328 RCV000428963 RCV000437450 RCV000438070 RCV000434327 RCV000444449 RCV001781267
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr1:114716123	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome 6 Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Myelodysplastic syndrome Gastric adenocarcinoma Multiple myeloma Medulloblastoma Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Malignant melanoma of skin Melanoma Non-Hodgkin lymphoma Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	SNV Germline/somatic	Chr15:90088702	Pathogenic/Likely pathogenic	D-2-hydroxyglutaric aciduria 2 Acute myeloid leukemia Myelodysplastic syndrome Neoplasm of the large intestine Condition: not provided Squamous cell carcinoma of the head and neck Multiple myeloma Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA124277	rs_121913502	10 SubmittersRCV000015831 RCV000419192 RCV000431189 RCV000430530 RCV000292094 RCV000420290 RCV000441454 RCV002513067
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)	SNV Germline/somatic	Chr3:128481901	Pathogenic	Monocytopenia with susceptibility to infections Leukemia, acute myeloid, susceptibility to Myelodysplastic syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts	CA128580	rs_387906631	6 SubmittersRCV000022561 RCV000022563 RCV000022562 RCV000426616 RCV000706855 RCV000984820 RCV001542226
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	SNV Germline	Chr20:32433408	Pathogenic	Bohring-Opitz syndrome 10 conditions dystrophia Developmental delay Condition: not provided Myelodysplastic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA129588	rs_373145711	5 SubmittersRCV000023977 RCV000414833 RCV000415151 RCV000627196 RCV001199371
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Epidermal nevus Juvenile myelomonocytic leukemia Condition: not provided Non-small cell lung carcinoma Malignant melanoma of skin Myelodysplastic syndrome Neoplasm of the large intestine Gastric adenocarcinoma Malignant neoplasm of body of uterus Multiple myeloma Melanoma Acute myeloid leukemia NRAS-related disorder Cardiovascular phenotype RASopathy Noonan syndrome 6 Noonan syndrome and Noonan-related syndrome Autoimmune lymphoproliferative syndrome type 4	Criteria Provided Multiple Submitters No Conflicts	CA130425	rs_121913237	10 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV000439064 RCV000440963 RCV000424239 RCV000427949 RCV000434517 RCV000430706 RCV000417702 RCV000417869 RCV000436228 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV003221788
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Condition: not provided Malignant neoplasm of body of uterus Neoplasm of the large intestine Multiple myeloma Acute myeloid leukemia Non-small cell lung carcinoma Malignant melanoma of skin Melanoma Gastric adenocarcinoma Myelodysplastic syndrome Chronic myelogenous leukemia, BCR-ABL1 positive	Criteria Provided Single Submitter	CA297020	rs_121913250	3 SubmittersRCV000158979 RCV000422059 RCV000422738 RCV000425805 RCV000433830 RCV000440380 RCV000435186 RCV000444830 RCV000432311 RCV000445013 RCV002291497
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Condition: not provided Multiple myeloma Acute myeloid leukemia Chronic myelogenous leukemia, BCR-ABL1 positive Neoplasm of the large intestine Non-small cell lung carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Myelodysplastic syndrome Gastric adenocarcinoma Melanoma Noonan syndrome 6 Increased nuchal translucency	Criteria Provided Multiple Submitters No Conflicts	CA297030	rs_121913250	6 SubmittersRCV000158985 RCV000420396 RCV000423088 RCV000430635 RCV000435447 RCV000425150 RCV000430032 RCV000438291 RCV000440262 RCV000420637 RCV000444217 RCV001781335 RCV001526619
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Gastric adenocarcinoma Myelodysplastic syndrome Melanoma Acute myeloid leukemia Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of the large intestine Multiple myeloma RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261525	rs_121913237	6 SubmittersRCV000037576 RCV000158986 RCV000423890 RCV000432178 RCV000419124 RCV000429393 RCV000438750 RCV000438967 RCV000439421 RCV000421072 RCV001377735
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	SNV Germline/somatic	Chr2:208248388	Pathogenic/Likely pathogenic	Glioblastoma multiforme, somatic Oligodendroglioma Adenoid cystic carcinoma Neoplasm of the large intestine Astrocytoma Glioblastoma Transitional cell carcinoma of the bladder Myelodysplastic syndrome Medulloblastoma Malignant melanoma of skin Lung adenocarcinoma Breast neoplasm Hepatocellular carcinoma Brainstem glioma Prostate adenocarcinoma Multiple myeloma Neoplasm of brain Acute myeloid leukemia Condition: not provided Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Glioma susceptibility 1 Enchondromatosis Metaphyseal chondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA170874	rs_121913500	9 SubmittersRCV000144504 RCV000423229 RCV000427239 RCV000431117 RCV000442517 RCV000445280 RCV000419255 RCV000421389 RCV000423408 RCV000433068 RCV000439554 RCV000441845 RCV000420454 RCV000422344 RCV000432047 RCV000440637 RCV000428884 RCV000429987 RCV001269510 RCV000853347 RCV001542733 RCV002227447 RCV003387509
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome Condition: not provided Gastric adenocarcinoma Melanoma Multiple myeloma Non-small cell lung carcinoma Myelodysplastic syndrome Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of the large intestine Acute myeloid leukemia RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA180753	rs_121913250	7 SubmittersRCV000158978 RCV000212761 RCV000442594 RCV000431995 RCV000433097 RCV000421327 RCV000430288 RCV000421993 RCV000427184 RCV000439216 RCV000445150 RCV001066799 RCV001813397 RCV003998247
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Myelodysplastic syndrome progressed to acute myeloid leukemia Condition: not provided Acute myeloid leukemia Non-small cell lung carcinoma Multiple myeloma Melanoma Malignant melanoma of skin Myelodysplastic syndrome Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280928	rs_121913237	5 SubmittersRCV000203450 RCV000380895 RCV000426950 RCV000427550 RCV000418647 RCV000434113 RCV000444591 RCV000425963 RCV000433455 RCV000437165 RCV000444670 RCV001324275 RCV001813426
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn)	SNV Somatic	Chr2:197402635	Pathogenic/Likely pathogenic	Myelodysplastic syndrome progressed to acute myeloid leukemia Acute myeloid leukemia Myelodysplastic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280929	rs_377023736	3 SubmittersRCV000203465 RCV000441310 RCV000431140
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of brain Squamous cell lung carcinoma Acute myeloid leukemia Multiple myeloma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Neoplasm of the large intestine Brainstem glioma Medulloblastoma Pancreatic adenocarcinoma Malignant melanoma of skin Myelodysplastic syndrome Malignant neoplasm of body of uterus B-cell chronic lymphocytic leukemia Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Prostate adenocarcinoma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA10580924	rs_11540652	7 SubmittersRCV000219834 RCV000422303 RCV000422821 RCV000429221 RCV000439901 RCV000427307 RCV000428586 RCV000434177 RCV000417894 RCV000418531 RCV000439516 RCV000440686 RCV000423159 RCV000423468 RCV000424394 RCV000443712 RCV000424119 RCV000445266 RCV000430044 RCV000433237 RCV000435726 RCV000433865 RCV000443630 RCV000435101 RCV000437940 RCV000445145 RCV000991149 RCV003475005 RCV004020650
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)	SNV Germline/somatic	Chr17:7674220	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Gastric adenocarcinoma Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Malignant melanoma of skin Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Medulloblastoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma Neoplasm of brain Squamous cell lung carcinoma Squamous cell carcinoma of the skin Acute myeloid leukemia Lung adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Myelodysplastic syndrome Prostate adenocarcinoma Brainstem glioma Carcinoma of esophagus Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10583676	rs_11540652	4 SubmittersRCV000229442 RCV000420292 RCV000421633 RCV000425773 RCV000430314 RCV000434831 RCV000431663 RCV000432304 RCV000432999 RCV000436850 RCV000438849 RCV000445077 RCV000418894 RCV000419610 RCV000426089 RCV000435488 RCV000436124 RCV000441018 RCV000444130 RCV000444805 RCV000420936 RCV000424795 RCV000425414 RCV000430964 RCV000441674 RCV000443867 RCV002378977 RCV004020765
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)	SNV Germline/somatic	Chr1:114716123	Likely pathogenic	Neoplasm Melanoma Malignant melanoma of skin Acute myeloid leukemia Medulloblastoma Gastric adenocarcinoma Transitional cell carcinoma of the bladder Non-Hodgkin lymphoma Neoplasm of the large intestine Cardiovascular phenotype Multiple myeloma Myelodysplastic syndrome	Criteria Provided Single Submitter	CA16602363	rs_121434596	2 SubmittersRCV000417850 RCV000423218 RCV000425977 RCV000432522 RCV000430805 RCV000435607 RCV000436237 RCV000437557 RCV000445025 RCV004022195 RCV000424444 RCV000444067
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)	SNV Somatic	Chr2:25234373	Pathogenic/Likely pathogenic	Lung adenocarcinoma Myelodysplastic syndrome Acute myeloid leukemia	No Assertion Criteria Provided	CA1555489	rs_147001633	1 SubmittersRCV000419470 RCV000427788 RCV000436723
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	SNV Germline/somatic	Chr2:25234373	Pathogenic/Likely pathogenic	Lung adenocarcinoma Acute myeloid leukemia Tatton-Brown-Rahman overgrowth syndrome Myelodysplastic syndrome Inborn genetic diseases Condition: not provided Clonal Cytopenia of Undetermined Significance Abnormality of the nervous system not specified EBV-positive nodal T- and NK-cell lymphoma Intellectual disability DNMT3A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1555488	rs_147001633	16 SubmittersRCV000418424 RCV000430182 RCV000524775 RCV000437399 RCV000623601 RCV000485343 RCV003153242 RCV001814155 RCV002248654 RCV004559051 RCV004017608 RCV004545768
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	SNV Germline/somatic	Chr2:25234374	Pathogenic	Myelodysplastic syndrome Acute myeloid leukemia Lung adenocarcinoma Tatton-Brown-Rahman overgrowth syndrome Condition: not provided Inborn genetic diseases Neurodevelopmental disorder EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Multiple Submitters No Conflicts	CA1555491	rs_377577594	11 SubmittersRCV000422474 RCV000429128 RCV000439787 RCV000590987 RCV001552894 RCV001267371 RCV001374980 RCV004559052
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)	SNV Somatic	Chr2:208248388	Pathogenic/Likely pathogenic	Myelodysplastic syndrome Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Medulloblastoma Glioblastoma Malignant melanoma of skin Lung adenocarcinoma Prostate adenocarcinoma Neoplasm of brain Multiple myeloma Breast neoplasm Brainstem glioma Hepatocellular carcinoma Adenoid cystic carcinoma	No Assertion Criteria Provided	CA16602372	rs_121913500	1 SubmittersRCV000418043 RCV000423104 RCV000424309 RCV000424554 RCV000425224 RCV000425475 RCV000430835 RCV000432682 RCV000433807 RCV000433285 RCV000435256 RCV000440464 RCV000441571 RCV000442225 RCV000445003
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	SNV Germline/somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Lung adenocarcinoma Breast neoplasm Medulloblastoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Brainstem glioma Adenoid cystic carcinoma Hepatocellular carcinoma Neoplasm of brain Acute myeloid leukemia Astrocytoma Neoplasm of the large intestine Prostate adenocarcinoma Glioblastoma Myelodysplastic syndrome Multiple myeloma Condition: not provided Maffucci syndrome Enchondromatosis Enchondromatosis Glioma susceptibility 1 Maffucci syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602374	rs_121913499	11 SubmittersRCV000419656 RCV000420988 RCV000428207 RCV000430360 RCV000434107 RCV000438918 RCV000435816 RCV000426141 RCV000418601 RCV000445302 RCV000421691 RCV000436904 RCV000437909 RCV000439965 RCV000441917 RCV000429279 RCV000997650 RCV002291276 RCV002227473 RCV003323531 RCV003458426
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)	SNV Somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Hepatocellular carcinoma Multiple myeloma Medulloblastoma Neoplasm of brain Adenoid cystic carcinoma Transitional cell carcinoma of the bladder Breast neoplasm Neoplasm of the large intestine Acute myeloid leukemia Prostate adenocarcinoma Malignant melanoma of skin Glioblastoma Brainstem glioma Lung adenocarcinoma Myelodysplastic syndrome	No Assertion Criteria Provided	CA16602375	rs_121913499	1 SubmittersRCV000417625 RCV000418685 RCV000419742 RCV000424071 RCV000425039 RCV000427476 RCV000427882 RCV000428941 RCV000434778 RCV000435299 RCV000436387 RCV000437708 RCV000440922 RCV000442058 RCV000444712
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	SNV Germline/somatic	Chr2:208248389	Pathogenic	Adenoid cystic carcinoma Hepatocellular carcinoma Brainstem glioma Prostate adenocarcinoma Medulloblastoma Neoplasm of the large intestine Astrocytoma Lung adenocarcinoma Breast neoplasm Neoplasm of brain Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia Multiple myeloma Transitional cell carcinoma of the bladder Malignant melanoma of skin Condition: not provided	Criteria Provided Single Submitter	CA16602376	rs_121913499	2 SubmittersRCV000418324 RCV000424342 RCV000424724 RCV000423616 RCV000425839 RCV000426812 RCV000430064 RCV000432144 RCV000431514 RCV000434628 RCV000435988 RCV000437066 RCV000440287 RCV000441330 RCV000442342 RCV000445051 RCV003884519
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys)	SNV Somatic	Chr15:90088606	Pathogenic/Likely pathogenic; risk factor	Acute myeloid leukemia Hepatocellular carcinoma Neoplasm of brain Myelodysplastic syndrome Neoplasm of the large intestine Brainstem glioma Acute myocardial infarction	No Assertion Criteria Provided	CA16602462	rs_121913503	2 SubmittersRCV000421863 RCV000426009 RCV000431485 RCV000432566 RCV000444071 RCV000445068 RCV002254524
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu)	SNV Somatic	Chr15:90088702	Pathogenic/Likely pathogenic	Myelodysplastic syndrome Acute myeloid leukemia Squamous cell carcinoma of the head and neck Multiple myeloma Neoplasm of the large intestine	No Assertion Criteria Provided	CA16602463	rs_121913502	1 SubmittersRCV000419881 RCV000424921 RCV000426646 RCV000435643 RCV000436884
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)	SNV Somatic	Chr11:66063413	Likely pathogenic	B-cell chronic lymphocytic leukemia Myelodysplastic syndrome Pancreatic adenocarcinoma Breast neoplasm Acute myeloid leukemia Papillary renal cell carcinoma type 1 Medulloblastoma	No Assertion Criteria Provided	CA16602960	rs_1057519960	1 SubmittersRCV000423295 RCV000424642 RCV000425258 RCV000433609 RCV000436411 RCV000444245 RCV000444087
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	SNV Germline/somatic	Chr17:7674221	Pathogenic/Likely pathogenic	Uterine carcinosarcoma Pancreatic adenocarcinoma Breast neoplasm Neoplasm of the large intestine Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma B-cell chronic lymphocytic leukemia Brainstem glioma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Myelodysplastic syndrome Malignant neoplasm of body of uterus Small cell lung carcinoma Carcinoma of esophagus Acute myeloid leukemia Neoplasm of brain Prostate adenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Medulloblastoma Glioblastoma Lung adenocarcinoma Squamous cell carcinoma of the skin Li-Fraumeni syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603069	rs_121912651	5 SubmittersRCV000417693 RCV000418362 RCV000420498 RCV000422668 RCV000423297 RCV000425782 RCV000424776 RCV000425100 RCV000425394 RCV000427544 RCV000427948 RCV000430735 RCV000432931 RCV000432207 RCV000433611 RCV000435353 RCV000435050 RCV000436038 RCV000437882 RCV000441010 RCV000441711 RCV000440334 RCV000444356 RCV000444519 RCV000444427 RCV000633396 RCV000626118 RCV001026425 RCV004022238
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)	SNV Germline	Chr3:128481176	Conflicting classifications of pathogenicity	not specified Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia Monocytopenia with susceptibility to infections Myelodysplastic syndrome Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2599808	rs_201155045	6 SubmittersRCV000502835 RCV000463544 RCV000765709 RCV001150746 RCV001541960 RCV003470392
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)	SNV Germline	Chr3:128486153	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Myelodysplastic syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified Condition: not provided GATA2-related disorder Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2600028	rs_753645971	6 SubmittersRCV000458357 RCV000765712 RCV001821227 RCV003236800 RCV003972754 RCV004567941
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	SNV Germline	Chr3:128481881	Pathogenic/Likely pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Myelodysplastic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA354413577	rs_1426175410	6 SubmittersRCV000528994 RCV000984821 RCV001542237 RCV003224332
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)	SNV Germline	Chr3:128486824	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Acute myeloid leukemia Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Myelodysplastic syndrome	Criteria Provided Conflicting Classifications	CA2600083	rs_570531959	3 SubmittersRCV000555700 RCV003470766 RCV003224333
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)	SNV Germline	Chr20:32434789	Pathogenic	Condition: not provided Bohring-Opitz syndrome Myelodysplastic syndrome Deficiency of iodide peroxidase	Criteria Provided Multiple Submitters No Conflicts		rs_373221034	3 SubmittersRCV000760645 RCV002282359 RCV003147544 RCV004526768
NM_016222.4(DDX41):c.1621+5G>T	SNV Germline	Chr5:177512317	Pathogenic	Myelodysplastic syndrome	Criteria Provided Single Submitter		rs_2127435833	1 SubmittersRCV002272707
NM_017654.4(SAMD9):c.4460A>G (p.Lys1487Arg)	SNV Germline	Chr7:93101638	Conflicting classifications of pathogenicity	Myelodysplastic syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002310620 RCV003164533 RCV003099165
NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter)	SNV Unknown	Chr3:128481882	Likely pathogenic	Myelodysplastic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003224958
NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg)	SNV Germline	Chr3:128481121	Likely pathogenic	Myelodysplastic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003486391