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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APC
(T270I +6 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+1 more
GUncertain significance
CASP10
(T424I +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 2A
+4 more
GUncertain significance
CASP10
(F476C +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
GUncertain significance
FGFR2
(R330Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+14 more
GConflicting classifications of pathogenicity
APC
(M712I +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+3 more
GUncertain significance
APC
(V2465I +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CASP10
(S141*)
Single nucleotide variant
(nonsense)
Neoplasm of stomach
GUncertain significance
APC
(C1271* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+6 more
GPathogenic
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
APC
(V2246I +12 more)
Single nucleotide variant
(missense variant)
Hepatocellular carcinoma
+7 more
GConflicting classifications of pathogenicity
FGFR2
(G384R +6 more)
Single nucleotide variant
(missense variant +2 more)
Acrocephalosyndactyly type I
+11 more
GPathogenic
APC
(S2371N +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+7 more
GUncertain significance
APC
(L2342F +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+3 more
GUncertain significance
APC
(K1598I +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
APC, LOC129994371
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
+5 more
GConflicting classifications of pathogenicity
APC
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
+5 more
GConflicting classifications of pathogenicity
APC
(M1V)
Single nucleotide variant
(missense variant +4 more)
Familial adenomatous polyposis 1
+5 more
GUncertain significance
APC
(V570I +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+9 more
GConflicting classifications of pathogenicity
FGFR2
(Y105C)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+12 more
GPathogenic/Likely pathogenic
MUTYH
(P383fs +7 more)
Duplication
(frameshift variant +1 more)
Neoplasm of stomach
+1 more
GLikely pathogenic
APC
(Q246R +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
PIK3CA-related disorder
+14 more
GUncertain significance
CTNNB1, LOC126806658
(T40A +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
GLikely pathogenic
CTNNB1, LOC126806658
(S37P +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
NRAS
(G13S)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
GLikely pathogenic
ERBB3
(G284R)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
+1 more
GLikely pathogenic
CTNNB1, LOC126806658
(S37Y +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GPathogenic/Likely pathogenic
FGFR2
(G338E +3 more)
Single nucleotide variant
(missense variant +2 more)
Crouzon syndrome
+11 more
GPathogenic/Likely pathogenic
MUTYH
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+4 more
GPathogenic
APC
Single nucleotide variant
(splice donor variant)
Desmoid disease, hereditary
+5 more
GPathogenic/Likely pathogenic
APC
(Y807C +12 more)
Single nucleotide variant
(missense variant)
Desmoid disease, hereditary
+7 more
GConflicting classifications of pathogenicity
APC
(T500M +12 more)
Single nucleotide variant
(missense variant)
Desmoid disease, hereditary
+6 more
GConflicting classifications of pathogenicity
APC
(N32S)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
APC
Single nucleotide variant
(intron variant)
Desmoid disease, hereditary
+9 more
GPathogenic/Likely pathogenic
APC
(D2803G +12 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
APC
(E518K +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+7 more
GConflicting classifications of pathogenicity
CDH1
(N432K)
Single nucleotide variant
(5 prime UTR variant +2 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
APC
(P2068R +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+5 more
GUncertain significance
APC
(R265* +5 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 1
GPathogenic
APC
(R24*)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+9 more
GPathogenic/Likely pathogenic
APC
(G1684E +12 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
MUTYH
(P334A +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MUTYH
(R311K +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+5 more
GUncertain significance
MUTYH
(R116Q +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GUncertain significance
APC
(R2741H +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+9 more
GConflicting classifications of pathogenicity
APC
(M2195I +12 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
APC
(S2779G +12 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
APC
(R213* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 1
+7 more
GPathogenic
MUTYH
(R245H +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GPathogenic/Likely pathogenic
MUTYH
(A419T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
APC
(P1934L +12 more)
Single nucleotide variant
(missense variant)
APC-related disorder
+11 more
GConflicting classifications of pathogenicity
MUTYH
(V329M +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
MUTYH
(R191Q +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
MUTYH
(R19* +1 more)
Single nucleotide variant
(nonsense +2 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic/Likely pathogenic
MUTYH
(Q498R +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
TP53
(R151C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GLikely benign
APC
(R216* +3 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+8 more
GPathogenic
APC
(R1770H +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
APC
(R232* +3 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
APC
Single nucleotide variant
(synonymous variant)
Familial adenomatous polyposis 1
GBenign
CDH1
(A298T)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
MUTYH
(R474C +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
APC
(P1458S +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+8 more
GConflicting classifications of pathogenicity
APC
(P2346S +12 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
APC
(S2242G +12 more)
Single nucleotide variant
(missense variant)
APC-Associated Polyposis Disorders
+10 more
GConflicting classifications of pathogenicity
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
+17 more
GPathogenic
FGFR2
(Y375C +6 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+13 more
GPathogenic/Likely pathogenic
FGFR2
(P253R +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+13 more
GPathogenic/Likely pathogenic
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+15 more
GPathogenic
FGFR2
(C342Y +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+13 more
GPathogenic/Likely pathogenic
CDH1
(V832M +3 more)
Single nucleotide variant
(missense variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
+8 more
GPathogenic/Likely pathogenic
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
APC
(Y935* +12 more)
Single nucleotide variant
(nonsense)
Hepatocellular carcinoma
+8 more
GPathogenic
APC
(R554* +12 more)
Single nucleotide variant
(nonsense)
Hepatocellular carcinoma
+8 more
GPathogenic
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