Total 36 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
NC_012920.1(MT-TL1):m.3242G>A SNV
Germline/somatic		 ChrMT:3242 Likely pathogenic Myelodysplastic syndrome
MELAS syndrome
Mitochondrial disease
Primary mitochondrial disorders		 Reviewed By Expert Panel
 CA280144 rs_193303018

5 SubmittersRCV000010223RCV000850687RCV005415395RCV006555295
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) SNV
Germline		 Chr3:128481901 Pathogenic Myelodysplastic syndrome
Leukemia, acute myeloid, susceptibility to
Monocytopenia with susceptibility to infections
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Condition: not provided
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128580 rs_387906631

6 SubmittersRCV000022562RCV000022563RCV000022561RCV000706855RCV000984820RCV001542226
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

6 SubmittersRCV000023977RCV000414833RCV000415151RCV000627196RCV001199371
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
RASopathy
Noonan syndrome and Noonan-related syndrome
Autoimmune lymphoproliferative syndrome type 4
Noonan syndrome 6
Colorectal cancer
Embryonal rhabdomyosarcoma
Germinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280928 rs_121913237

8 SubmittersRCV000203450RCV000380895RCV001324275RCV001813426RCV005868105RCV006249609RCV005603610RCV006253888RCV006253889
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) SNV
Somatic		 Chr2:197402635 Pathogenic/Likely pathogenic Myelodysplastic syndrome progressed to acute myeloid leukemia
Myelodysplastic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280929 rs_377023736

2 SubmittersRCV000203465RCV000431140
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) SNV
Germline/somatic		 Chr2:197402110 Conflicting classifications of pathogenicity Condition: not provided
Chronic myelogenous leukemia, BCR-ABL1 positive
SF3B1-related disorder
Myelodysplastic syndrome
Neoplasm		 Criteria Provided
Conflicting Classifications
 CA2042597 rs_559063155

5 SubmittersRCV001531943RCV002291501RCV003401412RCV004820845RCV005230291
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) SNV
Germline/somatic		 Chr2:197402635 Likely pathogenic Acute myeloid leukemia
Myelodysplastic syndrome		 Criteria Provided
Single Submitter
 CA2042625 rs_377023736

2 SubmittersRCV000420231RCV005252885
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) SNV
Germline		 Chr3:128481114 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
Condition: not provided
Acute myeloid leukemia
Inborn genetic diseases
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA2599793 rs_370164300

6 SubmittersRCV000473249RCV000765708RCV001764367RCV003470393RCV004975513RCV005600912
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) SNV
Germline		 Chr3:128481176 Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Acute myeloid leukemia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2599808 rs_201155045

10 SubmittersRCV000463544RCV000502835RCV000765709RCV001150746RCV001541960RCV003470392RCV004722758RCV004975510
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) SNV
Germline		 Chr3:128486185 Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Predisposition to myelodysplastic syndrome
Acute myeloid leukemia
Inborn genetic diseases
GATA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2600034 rs_746362966

6 SubmittersRCV000473843RCV001146583RCV003444236RCV003463841RCV004984889RCV004745385
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
GATA2 deficiency with susceptibility to MDS/AML		 Criteria Provided
Conflicting Classifications
 CA2600028 rs_753645971

7 SubmittersRCV000458357RCV000765712RCV001821227RCV003236800RCV003972754RCV004567941RCV004787706
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) SNV
Germline		 Chr3:128485769 Conflicting classifications of pathogenicity not specified
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Deafness-lymphedema-leukemia syndrome
Acute myeloid leukemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Acute myeloid leukemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2599954 rs_141800945

8 SubmittersRCV000502247RCV000540993RCV000765711RCV001200274RCV002257773RCV003470628RCV004975599
NM_032638.5(GATA2):c.649C>T (p.Leu217=) SNV
Germline		 Chr3:128485949 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
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA2599983 rs_369356562

4 SubmittersRCV000535347RCV005027654RCV004984973RCV005435018
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
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Monocytopenia with susceptibility to infections		 Criteria Provided
Multiple Submitters
No Conflicts
 CA354413577 rs_1426175410

7 SubmittersRCV000528994RCV000984821RCV001542237RCV003224332RCV005252966
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
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
GATA2 deficiency with susceptibility to MDS/AML
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2600083 rs_570531959

5 SubmittersRCV000555700RCV003470766RCV003224333RCV005600980RCV005625678
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) SNV
Germline		 Chr3:128481230 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
Hereditary cancer-predisposing syndrome
Condition: not provided
Acute myeloid leukemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2599816 rs_374457534

6 SubmittersRCV000546615RCV000765710RCV002255458RCV003223653RCV003459250RCV004975671
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) SNV
Germline		 Chr20:32434789 Pathogenic Condition: not provided
Bohring-Opitz syndrome
Myelodysplastic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9808536 rs_373221034

3 SubmittersRCV000760645RCV002282359RCV003147544
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr) SNV
Germline		 Chr3:128481848 Likely pathogenic Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Condition: not provided
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA354413511 rs_936826425

4 SubmittersRCV001049958RCV001542127RCV004720052RCV005029613
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu) SNV
Germline		 Chr3:128481294 Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome		 Criteria Provided
Conflicting Classifications
 CA354413320 rs_2107668094

3 SubmittersRCV001541950RCV006557519RCV005038255
NM_016222.4(DDX41):c.1621+5G>T SNV
Germline		 Chr5:177512317 Conflicting classifications of pathogenicity Myelodysplastic syndrome
Inborn genetic diseases
DDX41-related hematologic malignancy predisposition syndrome		 Criteria Provided
Conflicting Classifications
 CA923726328 rs_2127435833

3 SubmittersRCV002272707RCV005321144RCV005601882
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
 CA4342547 rs_556478940

4 SubmittersRCV002310620RCV003164533RCV003099165
NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter) SNV
Unknown		 Chr3:128481882 Likely pathogenic Myelodysplastic syndrome Criteria Provided
Single Submitter
 CA354413582 rs_2472920958

1 SubmittersRCV003224958
NM_001127208.3(TET2):c.3955-2A>G SNV
Germline		 Chr4:105261757 Likely pathogenic Myelodysplastic syndrome
Immunodeficiency 75
EBV-positive nodal T- and NK-cell lymphoma		 Criteria Provided
Single Submitter
 rs_1242089483

2 SubmittersRCV005036827RCV004557992
NM_001127208.3(TET2):c.2746C>T (p.Gln916Ter) SNV
Germline/somatic		 Chr4:105236688 Conflicting classifications of pathogenicity Condition: not provided
EBV-positive nodal T- and NK-cell lymphoma
Myelodysplastic syndrome
Immunodeficiency 75		 Criteria Provided
Conflicting Classifications
 CA3031947 rs_780710758

4 SubmittersRCV003720935RCV004558002RCV005399412
NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg) SNV
Germline		 Chr3:128481121 Likely pathogenic Myelodysplastic syndrome Criteria Provided
Single Submitter
 CA354412702 rs_1338194519

1 SubmittersRCV003486391
NM_012433.4(SF3B1):c.1866G>C (p.Glu622Asp) SNV
Germline		 Chr2:197402767 Likely pathogenic Myelodysplastic syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005859987