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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)
Pancreatic adenocarcinoma
+10 more
GLikely pathogenic
HRAS, LRRC56
(Q61E)
Single nucleotide variant
(missense variant +1 more)
B-cell chronic lymphocytic leukemia
+12 more
GLikely pathogenic
HRAS, LRRC56
(Q61P)
Single nucleotide variant
(missense variant +1 more)
Squamous cell lung carcinoma
+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
GUncertain significance
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)
not provided
+1 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
LRRC56, HRAS
(Q61R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+1 more
GLikely pathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
Cowden syndrome
+2 more
GPathogenic
KRAS
(G13V)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
KRAS
(Q61H)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+14 more
GPathogenic/Likely pathogenic
KRAS
(Q61L)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
KRAS
(Q61R)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+2 more
GConflicting classifications of pathogenicity
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)
Cowden syndrome 6
+2 more
GPathogenic
BRAF
(K601E +7 more)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
RET
(M918T +17 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+17 more
GPathogenic/Likely pathogenic
RET
(C634W +14 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+3 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
HRAS, LRRC56
(G13C)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
LRRC56, HRAS
(G12A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+8 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
HRAS, LRRC56
(G12V)
Single nucleotide variant
(missense variant +1 more)
HRAS-related disorder
+3 more
GPathogenic
KRAS
(G13R)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
KRAS
(G12S)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GPathogenic
KRAS
(G12V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
KRAS
(G12D)
Single nucleotide variant
(missense variant)
Cerebral arteriovenous malformation
+5 more
GPathogenic/Likely pathogenic
KRAS
(G13D)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GConflicting classifications of pathogenicity
KRAS
(G12R)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GPathogenic/Likely pathogenic
KRAS
(G12C)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
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