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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRAS
(Q61K)
Single nucleotide variant
(missense variant)
Large congenital melanocytic nevus
+3 more
GConflicting classifications of pathogenicity
OOncogenic
MYCN, MYCNOS
(P44L)
Single nucleotide variant
(non-coding transcript variant +3 more)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
OLikely oncogenic
ALK
(Y1278S +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+1 more
GPathogenic
ALK
(R1275L +1 more)
Single nucleotide variant
(missense variant)
Breast neoplasm
+1 more
GLikely pathogenic
ALK
(R1275Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ALK
(I1250T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ALK
(F1245L +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
GPathogenic
ALK
(F1245C +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+1 more
GPathogenic
ALK
(F1245L +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
GLikely pathogenic
ALK
(F1245I +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+1 more
GPathogenic/Likely pathogenic
ALK
(F1245V +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
GPathogenic
ALK
(R1192P +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
GPathogenic
ALK
(F1174L +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+2 more
GPathogenic/Likely pathogenic
ALK
(F1174L +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+2 more
GPathogenic/Likely pathogenic
ALK
(F1174C +1 more)
Single nucleotide variant
(missense variant)
ALK-related disorder
GLikely pathogenic
ALK
(F1174I +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+1 more
GPathogenic
ALK
(F1174L +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+1 more
GPathogenic/Likely pathogenic
ALK
(F1174V +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
+1 more
GPathogenic
ALK
(I1171N +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
GPathogenic
ALK
(M1166R +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
GLikely pathogenic
ALK
(T1151M +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+2 more
GConflicting classifications of pathogenicity
ALK
(G1128A +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+2 more
GPathogenic/Likely pathogenic; risk factor
ALK
(D1091N +1 more)
Single nucleotide variant
(missense variant)
Familial isolated pituitary adenoma
+2 more
GUncertain significance
PIK3CA
(K111E)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(K111R)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
PIK3CA
(K111N)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
FGFR1
(N546K +7 more)
Single nucleotide variant
(missense variant)
Rosette-forming glioneuronal tumor
+2 more
GPathogenic
OOncogenic
FGFR1
(N546D +7 more)
Single nucleotide variant
(missense variant)
Astrocytoma
+4 more
GLikely pathogenic
FGFR1
(M515V +7 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+4 more
GLikely pathogenic
MYC
(P58L +1 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+4 more
GLikely pathogenic
MYC
(T73P +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+4 more
GLikely pathogenic
MYC
(T73I +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma
+5 more
GLikely pathogenic
PTPN11
(A72T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic/Likely pathogenic
PTPN11
(A72D +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+3 more
GLikely pathogenic
PTPN11
(A72V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GPathogenic/Likely pathogenic
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
PTPN11
(E76A +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PTPN11
(E76G +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
TP53
(D149E +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(D149A +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
GLikely pathogenic
TP53
(D149V +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TP53
(D149G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GPathogenic
TP53
(D149H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(D149N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic/Likely pathogenic
TP53
(D149Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
OLikely oncogenic
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