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Links from MedGen

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA2
(S433R +1 more)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
GLikely pathogenic
TET2, TET2-AS1
(S733fs)
Deletion
(frameshift variant)
Myelodysplastic syndrome
GUncertain significance
GATA2
(W346* +1 more)
Single nucleotide variant
(nonsense)
Myelodysplastic syndrome
GLikely pathogenic
SAMD9
(K1487R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SF3B1
(D69E)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
GUncertain significance
ASXL1
(D629fs +1 more)
Deletion
(frameshift variant)
Myelodysplastic syndrome
GLikely pathogenic
DDX41
Single nucleotide variant
(intron variant)
Myelodysplastic syndrome
GPathogenic
TET2, TET2-AS1
Single nucleotide variant
(splice acceptor variant)
Myelodysplastic syndrome
GLikely pathogenic
TET2, TET2-AS1
(C677fs)
Microsatellite
(frameshift variant)
Myelodysplastic syndrome
GPathogenic
ASXL1
(V1040E +1 more)
Single nucleotide variant
(missense variant)
Bohring-Opitz syndrome
+1 more
GUncertain significance
ASXL1
Single nucleotide variant
(synonymous variant)
Myelodysplastic syndrome
+2 more
GLikely benign
GNB1
Single nucleotide variant
(synonymous variant)
Myelodysplastic syndrome
+3 more
GLikely benign
ASXL1
Single nucleotide variant
(intron variant)
Bohring-Opitz syndrome
+2 more
GBenign/Likely benign
GATA2
(T160S)
Single nucleotide variant
(missense variant)
Monocytopenia with susceptibility to infections
+3 more
GUncertain significance
TET2, TET2-AS1
(K423R)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
GUncertain significance
GATA2
Deletion
Myelodysplastic syndrome
GLikely pathogenic
ASXL1
(D954E +1 more)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
GUncertain significance
GATA2
(T124M)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
GATA2
(G136fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GNB1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ASXL1
(C626R +1 more)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
+2 more
GBenign/Likely benign
GATA2
(H165L)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GUncertain significance
ASXL1
(R693* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
ASXL1
(S1429del +1 more)
Microsatellite
(inframe_deletion)
Myelodysplastic syndrome
+2 more
GUncertain significance
ASXL1
(A637G +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+1 more
GUncertain significance
ASXL1
(K1371del +1 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
ASXL1
(P1377fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
GATA2
(V70F)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GConflicting classifications of pathogenicity
GATA2
(A411V +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+5 more
GUncertain significance
GATA2
(R361C +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+5 more
GPathogenic/Likely pathogenic
GATA2
(S277G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
GATA2
(G450R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GATA2
(G149R)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+5 more
GConflicting classifications of pathogenicity
GATA2
(S429T +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+5 more
GConflicting classifications of pathogenicity
TP53
(R116G +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
SF3B2
(E700G)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma type 1
+6 more
GLikely pathogenic
U2AF1
(S34Y)
Single nucleotide variant
(missense variant +1 more)
Uterine carcinosarcoma
+8 more
GLikely pathogenic
U2AF1
(S34F)
Single nucleotide variant
(missense variant +1 more)
Uterine carcinosarcoma
+8 more
GLikely pathogenic
U2AF1
(Q157P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
IDH2
(R140W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH2
(R140L +2 more)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+4 more
GPathogenic/Likely pathogenic
IDH2
(R120K +2 more)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+5 more
GPathogenic/Likely pathogenic; risk factor
IDH1
(R132S)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+15 more
GPathogenic/Likely pathogenic
IDH1
(R132G)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+14 more
GPathogenic/Likely pathogenic
IDH1
(R132C)
Single nucleotide variant
(missense variant)
Maffucci syndrome
+4 more
GPathogenic/Likely pathogenic
IDH1
(R132L)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+14 more
GPathogenic/Likely pathogenic
DNMT3A
(R693C +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
+4 more
GPathogenic
DNMT3A
(R693H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DNMT3A
(R693P +3 more)
Single nucleotide variant
(missense variant +1 more)
Myelodysplastic syndrome
+2 more
GPathogenic/Likely pathogenic
NRAS
(G13V)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+10 more
GPathogenic/Likely pathogenic
GATA2
(G237D)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
+4 more
GBenign/Likely benign
ASXL1
Single nucleotide variant
(intron variant)
Myelodysplastic syndrome
+2 more
GBenign/Likely benign
ASXL1
Single nucleotide variant
(intron variant)
Myelodysplastic syndrome
+2 more
GBenign/Likely benign
GATA2
(A61V)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+4 more
GUncertain significance
TP53
(R116P +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
TP53
(R116L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
SF3B1
(K666N)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome progressed to acute myeloid leukemia
+1 more
GPathogenic/Likely pathogenic
NRAS
(G12A)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+7 more
GPathogenic/Likely pathogenic
NRAS
(G12S)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GPathogenic
IDH1
(R132H)
Single nucleotide variant
(missense variant)
Metaphyseal chondromatosis
+3 more
GPathogenic/Likely pathogenic
ERBB2
(E900D +21 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign/Likely benign
ASXL1
(N986S +1 more)
Single nucleotide variant
(missense variant)
Myelodysplastic syndrome
+2 more
GBenign/Likely benign
NRAS
(G12V)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GPathogenic/Likely pathogenic
NRAS
(G12R)
Single nucleotide variant
(missense variant)
Noonan syndrome 6
+2 more
GPathogenic
NRAS
(G12C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NRAS
(G12D)
Single nucleotide variant
(missense variant)
NRAS-related condition
+5 more
GPathogenic/Likely pathogenic
ASXL1
(R404* +1 more)
Single nucleotide variant
(nonsense)
dystrophia
+14 more
GPathogenic
GATA2
(T344del +1 more)
Deletion
(inframe_deletion)
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
GATA2
(T354M +1 more)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+3 more
GPathogenic
IDH2
(R140Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NRAS
(G13D)
Single nucleotide variant
(missense variant)
Acute megakaryoblastic leukemia in down syndrome
+2 more
GPathogenic/Likely pathogenic
NRAS
(G13R)
Single nucleotide variant
(missense variant)
Noonan syndrome 6
GLikely pathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+6 more
GPathogenic
HRAS, LRRC56
(G12A)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+8 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(R248W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic/Likely pathogenic
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