Total 27 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 Pathogenic/Likely pathogenic Myelodysplastic syndrome
MELAS syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280144 rs_193303018

3 SubmittersRCV000010223RCV000850687
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) SNV
Germline		 Chr3:128481901 Pathogenic Leukemia, acute myeloid, susceptibility to
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Condition: not provided
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128580 rs_387906631

6 SubmittersRCV000022563RCV000022561RCV000022562RCV000984820RCV000706855RCV001542226
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 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
Noonan syndrome and Noonan-related syndrome
Condition: not provided
RASopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280928 rs_121913237

4 SubmittersRCV000203450RCV001813426RCV000380895RCV001324275
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		 Criteria Provided
Conflicting Classifications
 CA2042597 rs_559063155

4 SubmittersRCV001531943RCV002291501RCV003401412RCV004820845
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
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia
Condition: not provided
Acute myeloid leukemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2599793 rs_370164300

5 SubmittersRCV000473249RCV000765708RCV001764367RCV003470393RCV004975513
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
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
not specified
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Acute myeloid leukemia
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2599808 rs_201155045

8 SubmittersRCV000463544RCV000765709RCV001150746RCV000502835RCV001541960RCV003470392RCV004975510RCV004722758
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
Inborn genetic diseases
Predisposition to myelodysplastic syndrome
Acute myeloid leukemia
GATA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2600034 rs_746362966

6 SubmittersRCV000473843RCV001146583RCV004984889RCV003444236RCV003463841RCV004745385
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
Condition: not provided
GATA2-related disorder
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia
not specified
GATA2 deficiency with susceptibility to MDS/AML		 Criteria Provided
Conflicting Classifications
 CA2600028 rs_753645971

7 SubmittersRCV000458357RCV003236800RCV003972754RCV004567941RCV000765712RCV001821227RCV004787706
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
Acute myeloid leukemia
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Deafness-lymphedema-leukemia syndrome
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.1081C>T (p.Arg361Cys) SNV
Germline		 Chr3:128481881 Pathogenic/Likely pathogenic Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Condition: not provided
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA354413577 rs_1426175410

6 SubmittersRCV000528994RCV000984821RCV001542237RCV003224332
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
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia		 Criteria Provided
Conflicting Classifications
 CA2600083 rs_570531959

3 SubmittersRCV000555700RCV003470766RCV003224333
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) SNV
Germline		 Chr3:128481230 Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
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
 rs_373221034

3 SubmittersRCV000760645RCV002282359RCV003147544
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 Condition: not provided
Myelodysplastic syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV003099165RCV002310620RCV003164533
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