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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR
(S2215F)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
LOC107303340, VHL
(R167W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
MET
(V6L)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
MET
(N45K)
Single nucleotide variant
(missense variant +1 more)
Papillary renal cell carcinoma type 1
+2 more
GUncertain significance
MET
(A48T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 97
+6 more
GConflicting classifications of pathogenicity
MET
(A48G)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+5 more
GConflicting classifications of pathogenicity
MET
(V72A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MET
(D114V)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+5 more
GConflicting classifications of pathogenicity
MET
(T230M)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
MET
(E254D)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+6 more
GConflicting classifications of pathogenicity
MET
(T263M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 97
+4 more
GUncertain significance
MET
(E267K)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+6 more
GUncertain significance
MET
(T273N)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+6 more
GConflicting classifications of pathogenicity
MET
(T309P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MET
(A347T)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+6 more
GConflicting classifications of pathogenicity
MET
(A361S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 97
+6 more
GConflicting classifications of pathogenicity
MET
(I367V)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+3 more
GConflicting classifications of pathogenicity
MET
(V378I)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 97
+4 more
GConflicting classifications of pathogenicity
MET
(P392T)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+6 more
GUncertain significance
MET
(H484Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+3 more
GConflicting classifications of pathogenicity
MET
(H484R +1 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+5 more
GConflicting classifications of pathogenicity
MET
(T495R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MET
(D113N +1 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+3 more
GConflicting classifications of pathogenicity
MET
(T557A +1 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma type 1
+7 more
GConflicting classifications of pathogenicity
MET
(R591W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+4 more
GConflicting classifications of pathogenicity
MET
(R591Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+3 more
GUncertain significance
MET
(S663L +1 more)
Single nucleotide variant
(missense variant)
Ovarian cancer
+5 more
GConflicting classifications of pathogenicity
MET
(H855R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+4 more
GUncertain significance
MET
(V910I +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MET
(V937I +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+5 more
GConflicting classifications of pathogenicity
MET
(S960L +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MET
(T513I +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+2 more
GConflicting classifications of pathogenicity
MET
(R988H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+5 more
GConflicting classifications of pathogenicity
MET
(P1009S +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+4 more
GConflicting classifications of pathogenicity
MET
(R1040L +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MET
(S1092N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+3 more
GConflicting classifications of pathogenicity
MET
(I1136V +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+4 more
GUncertain significance
MET
(G1137A +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MET
(R1354Q +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+5 more
GConflicting classifications of pathogenicity
MET
(I1355M +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+4 more
GUncertain significance
MET
(A1357V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 97
+4 more
GConflicting classifications of pathogenicity
MET
(I1363T +2 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
MET
(V1377I +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TP53
(R150Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
TP53
(R282W +3 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(D149A +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
GLikely pathogenic
TP53
(C143Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(N107D +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
+4 more
GConflicting classifications of pathogenicity
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(Y181H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(R174Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+5 more
GPathogenic/Likely pathogenic
TP53
(C137Y +3 more)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma
+6 more
GPathogenic
TP53
(T125M +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+5 more
GConflicting classifications of pathogenicity
OLikely oncogenic
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