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Links from MedGen

Items: 1 to 100 of 875

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APC
(R1676G +25 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
PMS2
(S523T +23 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLE
(E1459*)
Single nucleotide variant
(nonsense)
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
+2 more
GPathogenic/Likely pathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant)
Hereditary nonpolyposis colorectal neoplasms
GLikely pathogenic
MSH2
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
MSH2
(K268* +1 more)
Duplication
(nonsense)
Lynch syndrome 1
GPathogenic
APC
(E143fs +3 more)
Deletion
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
APC
(Y1002fs +12 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
MLH1
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
SMAD4
(Q245*)
Single nucleotide variant
(nonsense)
Carcinoma of colon
GPathogenic
MSH6
Deletion
(intron variant)
Carcinoma of colon
GLikely benign
APC
(S1106fs +12 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
APC
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
POLD1
Single nucleotide variant
(intron variant)
Carcinoma of colon
GUncertain significance
MLH1
(L232fs +5 more)
Indel
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
APC
(H1009fs +12 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
APC
(A1000fs +12 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
APC
Deletion
(intron variant)
Carcinoma of colon
GPathogenic
APC
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
APC
(V547fs +12 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
LOC129933707, LOC129933708
+1 more
Deletion
(splice donor variant +1 more)
Carcinoma of colon
GPathogenic
APC
(G694fs +12 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
MSH6
(G1162fs +2 more)
Duplication
(frameshift variant)
Carcinoma of colon
GPathogenic
MLH1
(G248R +5 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma of colon
GUncertain significance
MLH1
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
APC
(Q290fs +6 more)
Deletion
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
PALB2
(V298fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
MSH2
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
EPCAM
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
APC
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MSH6
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MSH6
(G153V)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MLH1
(G122fs +2 more)
Deletion
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
MSH2
(Y749fs +1 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
MSH2
Single nucleotide variant
(intron variant)
Carcinoma of colon
GUncertain significance
APC
(A248G +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
APC
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
APC
Single nucleotide variant
(synonymous variant)
Carcinoma of colon
GUncertain significance
APC
(Q40fs +3 more)
Deletion
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
PMS2
(E525fs +9 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
MSH6
Deletion
(splice donor variant)
Lynch syndrome 5
GLikely pathogenic
CDH1
(L121P +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
APC
Deletion
(splice donor variant +2 more)
Malignant tumor of breast
+1 more
GPathogenic
APC
Deletion
(splice acceptor variant)
Carcinoma of colon
GPathogenic
MSH6
(G359fs +2 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
MSH2
Duplication
(splice acceptor variant +1 more)
Carcinoma of colon
GUncertain significance
MLH1
(T111I +5 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GLikely pathogenic
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Carcinoma of colon
GLikely benign
MLH1
Deletion
(nonsense)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant +1 more)
Colorectal cancer, hereditary nonpolyposis, type 2
+1 more
GPathogenic
APC
(P1098R +12 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
PMS2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
BRCA2
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GLikely benign
APC
(T1097A +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
BRCA1
Deletion
(splice acceptor variant +1 more)
Malignant tumor of breast
+2 more
GPathogenic
APC
(C137fs +10 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
PALB2
(Q314R)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
MLH1
(S113fs +2 more)
Deletion
(frameshift variant +1 more)
Carcinoma of colon
GPathogenic
APC
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MSH6
Deletion
(splice acceptor variant)
Carcinoma of colon
GLikely pathogenic
PMS2
(S123fs +2 more)
Deletion
(frameshift variant +2 more)
Lynch syndrome 4
GPathogenic
MLH1
(N144D +5 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
MSH6
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
MSH6
(E317* +2 more)
Single nucleotide variant
(nonsense)
Carcinoma of colon
GPathogenic
MSH2
Single nucleotide variant
(intron variant)
Carcinoma of colon
GLikely benign
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
APC
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MLH1
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
EPCAM
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MSH6
(V234fs +2 more)
Duplication
(frameshift variant)
Carcinoma of colon
GPathogenic
APC
(N682fs +12 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
APC
Deletion
(splice donor variant +2 more)
Desmoid tumor
+1 more
GPathogenic
MSH6
(G56V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MLH1
(E396fs +8 more)
Duplication
(frameshift variant)
Carcinoma of colon
GLikely pathogenic
MSH2
Deletion
(splice acceptor variant +1 more)
Carcinoma of colon
GPathogenic
MLH1
(V205G +3 more)
Single nucleotide variant
(missense variant +2 more)
Carcinoma of colon
GUncertain significance
MLH1
(S353fs +8 more)
Duplication
(frameshift variant)
Carcinoma of colon
GPathogenic
MSH2
Deletion
(splice acceptor variant +2 more)
Carcinoma of colon
GPathogenic
MSH2
(A154fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome 1
GPathogenic
APC
(T647I +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
POLE
(S1520R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MSH6
(N232D +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PALB2
(S574P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
POLE
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
MLH1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PTEN
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
MSH6
(Q132fs)
Deletion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
APC
(G1808S +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(stop lost +1 more)
Familial cancer of breast
+2 more
GLikely pathogenic
PALB2
(P1009L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
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