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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPCAM
Deletion
Lynch syndrome 1
Gnot provided
LOC129933695, MSH2
Deletion
Lynch syndrome
GPathogenic
MSH2
(Q64fs)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MSH2
(R389* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
Indel
(splice acceptor variant +1 more)
Lynch syndrome 1
GPathogenic
MSH2
(N420fs +1 more)
Microsatellite
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
(N596del +1 more)
Deletion
(inframe_deletion)
Lynch syndrome
GPathogenic
MSH2
(A636P +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH2
(M688R +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH2
(Q718* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(M663fs +1 more)
Indel
(frameshift variant)
Lynch syndrome 1
Gnot provided
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome
GLikely pathogenic
MSH6
(S156*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Lynch syndrome
GPathogenic
MSH6
(K88* +1 more)
Duplication
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH6
(L449P +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH6
Indel
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(Y977* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(E995* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(A1190fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(L1200fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MLH1
(N38H)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MLH1
(S131* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic
MLH1
Single nucleotide variant
(splice acceptor variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(splice acceptor variant)
Lynch syndrome
GPathogenic
MLH1
(G244D +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GPathogenic
MLH1
(R265C +3 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Deletion
(splice acceptor variant +2 more)
Lynch syndrome
GPathogenic
MLH1
(K461* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(R399fs +5 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GPathogenic
MLH1
Indel
(splice donor variant)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(synonymous variant)
Lynch syndrome
GPathogenic
MLH1
Deletion
(splice acceptor variant +2 more)
Colorectal cancer, hereditary nonpolyposis, type 2
GPathogenic
MLH1
(M346fs +5 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(I270fs +5 more)
Deletion
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(L622H +5 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(M341fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
MLH1
(W714* +8 more)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic
MLH1
(H678fs +8 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MLH1
(K410fs +7 more)
Deletion
(frameshift variant)
Lynch syndrome 1
GPathogenic
MLH1
Duplication
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
PMS2
(I668V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GLikely pathogenic
PMS2
Deletion
(splice acceptor variant +2 more)
Lynch syndrome
GPathogenic
PMS2
Single nucleotide variant
(intron variant +1 more)
Lynch syndrome 4
+3 more
GPathogenic
PMS2
(K301N +4 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GLikely pathogenic
PMS2
(S46I)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome
GLikely pathogenic
PMS2
(M1V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely pathogenic
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