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Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MET
(D1010N +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
EGFR
(N1107S +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GUncertain significance
EGFR
(I913V +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GLikely benign
EGFR, EGFR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
EGFR-related lung cancer
+1 more
GConflicting classifications of pathogenicity
EGFR
Single nucleotide variant
(intron variant)
Lung carcinoma
GLikely benign
EGFR
(G561S +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
+1 more
GConflicting classifications of pathogenicity
EGFR
(I224T +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GLikely benign
EGFR
Single nucleotide variant
(intron variant)
Lung carcinoma
GLikely benign
EGFR
(L131P +1 more)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
+1 more
GConflicting classifications of pathogenicity
EGFR
(L131Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
+1 more
GConflicting classifications of pathogenicity
EGFR
(P20Q)
Single nucleotide variant
(missense variant)
Lung carcinoma
+1 more
GUncertain significance
EGFR
Single nucleotide variant
(5 prime UTR variant)
Lung carcinoma
GLikely benign
ALK, SLMAP
Translocation
Lung carcinoma
GPathogenic
PPM1D
(R552*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
EGFR
(E829Q +3 more)
Single nucleotide variant
(missense variant)
EGFR-related lung cancer
+1 more
GUncertain significance
EGFR
(N639T +3 more)
Single nucleotide variant
(missense variant)
EGFR-related lung cancer
+1 more
GUncertain significance
EGFR
(V592I +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
+4 more
GBenign/Likely benign
EGFR
(S170N +1 more)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
+2 more
GConflicting classifications of pathogenicity
EGFR
(T39M)
Single nucleotide variant
(missense variant +2 more)
EGFR-related lung cancer
+1 more
GUncertain significance
BRAF
(Y647C +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GUncertain significance
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
PIK3CA-related disorder
+14 more
GUncertain significance
BRAF
(R389H +4 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GUncertain significance
BRAF
(R146Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
EGFR
(V1047M +3 more)
Single nucleotide variant
(missense variant)
EGFR-related lung cancer
+1 more
GConflicting classifications of pathogenicity
EGFR
(L838V +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GUncertain significance
EGFR, EGFR-AS1
(V769M +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ERCC6
(G1356S)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ERCC6
(R1396G)
Single nucleotide variant
(missense variant)
DE SANCTIS-CACCHIONE SYNDROME
+9 more
GUncertain significance
ERCC6
(Q1041P)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+12 more
GConflicting classifications of pathogenicity
LOC126860933, ERCC6
Single nucleotide variant
(splice acceptor variant)
not provided
+7 more
GPathogenic
ERCC6
(R666C)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+12 more
GConflicting classifications of pathogenicity
EGFR
(E709G +3 more)
Single nucleotide variant
(missense variant)
Tyrosine kinase inhibitor response
Gdrug response
CHEK2
(R474C +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
EGFR
Single nucleotide variant
(synonymous variant)
EGFR-related lung cancer
+2 more
GLikely benign
EGFR
(P848L +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
EGFR
(H835L +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EGFR, EGFR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Lung cancer
+6 more
GBenign
EGFR
(E709A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRAF
(N581K +7 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
+6 more
GPathogenic/Likely pathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
not provided
+19 more
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+9 more
GPathogenic/Likely pathogenic
EGFR
(L858R +3 more)
Single nucleotide variant
(missense variant)
gefitinib response - Efficacy
+1 more
Gdrug response
STier I - Strong
BRAF
(D638E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
KRAS
(D153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
KRAS
(G12C)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GLikely pathogenic
OOncogenic
PRKN
(R275W +2 more)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+8 more
GPathogenic/Likely pathogenic
SLC22A18
(S233F +2 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GPathogenic
PPP2R1B
(G90D)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
GPathogenic
ERCC6, PGBD3
(R453*)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 2
+8 more
GPathogenic
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