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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX32
(I266M)
Single nucleotide variant
(missense variant)
Thyroid tumor
GUncertain significance
PIK3CA
(M1043L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
PIK3CA
(M1043T)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
PIK3CA
(M1043V)
Single nucleotide variant
(missense variant)
Breast neoplasm
+11 more
GLikely pathogenic
OOncogenic
HRAS, LRRC56
(Q61E)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
+12 more
GLikely pathogenic
HRAS, LRRC56
(Q61P)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
+13 more
GLikely pathogenic
HRAS, LRRC56
(Q61H)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 3
GLikely pathogenic
BRAF
(K601N +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
HRAS, LRRC56
(Q61L)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GUncertain significance
OOncogenic
KRAS
(G13S)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+2 more
GPathogenic
KRAS
(Q61P)
Single nucleotide variant
(missense variant)
Thyroid tumor
+1 more
GPathogenic/Likely pathogenic
KRAS
(A146V)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(G12R)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GLikely pathogenic
NRAS
(Q61L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
NRAS
(Q61H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRAS
(Q61P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PIK3CA
(M1043I)
Single nucleotide variant
(missense variant)
Cowden syndrome
+3 more
GPathogenic/Likely pathogenic
KRAS
(Q61K)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
HRAS, LRRC56
(Q61R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+7 more
GLikely pathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic
KRAS
(G13V)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
KRAS
(Q61H)
Single nucleotide variant
(missense variant)
Pancreatic adenocarcinoma
+14 more
GPathogenic/Likely pathogenic
KRAS
(Q61L)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
+1 more
GPathogenic
OOncogenic
KRAS
(Q61R)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
OOncogenic
BRAF
(K601T +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
HRAS, LRRC56
(G13R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
AKT1
(E17K)
Single nucleotide variant
(missense variant)
Proteus syndrome
+3 more
GPathogenic
OOncogenic
BRAF
(K601E +7 more)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
RET
(M918T +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+16 more
GPathogenic/Likely pathogenic
RET
(C634W +14 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+3 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
Epidermal nevus
+6 more
GPathogenic
HRAS, LRRC56
(G13C)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
HRAS, LRRC56
(G12A)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+8 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
LRRC56, HRAS
(G12V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+3 more
GPathogenic
KRAS
(G13R)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
KRAS
(G12S)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 2
+5 more
GPathogenic
OOncogenic
KRAS
(G12V)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+5 more
GPathogenic
OOncogenic
KRAS
(G12D)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
OOncogenic
KRAS
(G13D)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GPathogenic
OOncogenic
KRAS
(G12R)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GPathogenic/Likely pathogenic
OOncogenic
KRAS
(G12C)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GLikely pathogenic
OOncogenic
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