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Links from MedGen

Items: 66

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)
EGFR-related lung cancer
+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)
EGFR-related lung cancer
+1 more
GConflicting classifications of pathogenicity
EGFR
(L131Q +1 more)
Single nucleotide variant
(missense variant +1 more)
EGFR-related lung cancer
+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
SLMAP, ALK
Translocation
Lung carcinoma
GPathogenic
PPM1D
(R552*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
+3 more
GConflicting classifications of pathogenicity
EGFR
(A1118T +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
EGFR
(E829Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+2 more
GUncertain significance
EGFR
(N639T +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+2 more
GUncertain significance
EGFR
(V592I +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
EGFR
(S170N +1 more)
Single nucleotide variant
(missense variant +1 more)
EGFR-related lung cancer
+1 more
GConflicting classifications of pathogenicity
EGFR
(T39M)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer
+2 more
GUncertain significance
BRAF
(Y647C +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
+6 more
GUncertain significance
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
Congenital macrodactylia
+14 more
GUncertain significance
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+14 more
GUncertain significance
EGFR
(E749Q +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GLikely pathogenic
ROCK1
(P1193S)
Single nucleotide variant
(missense variant)
Breast neoplasm
+1 more
GLikely pathogenic
BRAF
(G469L +7 more)
Indel
(missense variant)
Lung carcinoma
GPathogenic
BRAF
(Y472C +7 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
+1 more
GConflicting classifications of pathogenicity
BRAF
(R389H +4 more)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
+7 more
GUncertain significance
BRAF
(R146Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
+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)
UV-sensitive syndrome 1
+7 more
GConflicting classifications of pathogenicity
ERCC6
(R1396G)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+8 more
GUncertain significance
ERCC6
(Q1041P)
Single nucleotide variant
(missense variant)
COFS syndrome
+12 more
GConflicting classifications of pathogenicity
ERCC6, LOC126860933
Single nucleotide variant
(splice acceptor variant)
UV-sensitive syndrome 1
+7 more
GPathogenic
ERCC6
(R666C)
Single nucleotide variant
(missense variant)
COFS syndrome
+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)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
EGFR
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
EGFR
(P848L +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
EGFR
(H835L +3 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
+1 more
GUncertain significance
EGFR-AS1, EGFR
Single nucleotide variant
(non-coding transcript variant +1 more)
Lung cancer
+5 more
GBenign
EGFR
(L747S +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EGFR
(E709A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRAF
(N581K +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+6 more
GPathogenic/Likely pathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+17 more
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 7
+7 more
GPathogenic/Likely pathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+9 more
GPathogenic/Likely pathogenic
NQO1
(P187S +3 more)
Single nucleotide variant
(missense variant)
Leukemia, post-chemotherapy, susceptibility to
+2 more
GPathogenic; risk factor
EGFR, EGFR-AS1
(T790M +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
gefitinib response - Efficacy
+1 more
Gdrug response
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)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
BRAF
(G469A +7 more)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
BRAF
(L597V +7 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic
BRAF
(G466V +7 more)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+7 more
GPathogenic/Likely pathogenic
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+3 more
GPathogenic
STier I - Strong
PIK3CA
(Q546K)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with mainly venous malformation with capillary component
+1 more
GConflicting classifications of pathogenicity
KRAS
(D153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
GPathogenic
KRAS
(G12D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
KRAS
(G12C)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
PRKN
(R275W +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
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)
Premature ovarian failure 11
+7 more
GPathogenic
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