U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 744

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA2
Single nucleotide variant
(intron variant)
Neoplasm of ovary
GUncertain significance
MSH2
(D229Y +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
+1 more
GConflicting classifications of pathogenicity
CTNNB1, LOC126806659
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
CTNNB1, LOC126806659
(H517R +1 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+7 more
GUncertain significance
PRKN
(D184V)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+3 more
GUncertain significance
PRKN
(Q25*)
Single nucleotide variant
(nonsense)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GPathogenic/Likely pathogenic
PRKN
Duplication
(intron variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GBenign
CDH1
(D437N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
BRCA1
Microsatellite
(nonsense +1 more)
Familial cancer of breast
+1 more
GPathogenic
ATM
Deletion
Neoplasm of ovary
+2 more
GPathogenic
TP53
(E112* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GLikely benign
TP53
(K214fs +3 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
RAD51D, RAD51L3-RFFL
(Q192* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA1
Deletion
Neoplasm of ovary
GPathogenic
BRCA1
Deletion
Neoplasm of ovary
GPathogenic
PALB2
(T333N)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
+1 more
GUncertain significance
PRKN
(G118A)
Single nucleotide variant
(missense variant +1 more)
Lung cancer
+3 more
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Hereditary cancer
GLikely benign
PRKN
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive juvenile Parkinson disease 2
+2 more
GUncertain significance
PRKN
Single nucleotide variant
(3 prime UTR variant)
Lung cancer
+2 more
GUncertain significance
PRKN
(T83A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
PRKN
(P113fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GPathogenic/Likely pathogenic
RAD51C
(V25fs)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 3
+1 more
GPathogenic
CTNNB1
Single nucleotide variant
(synonymous variant)
Neoplasm of ovary
+7 more
GBenign/Likely benign
PRKN
Single nucleotide variant
(synonymous variant +1 more)
Neoplasm of ovary
+3 more
GLikely benign
PRKN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PRKN
Single nucleotide variant
(synonymous variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GLikely benign
PRKN
(Y239H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BRCA1, LOC126862571
(C1204fs +21 more)
Deletion
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
BRCA2
(R67fs)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
BRCA2
(V1068fs)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
BRCA1
(H619fs +20 more)
Deletion
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
MSH6
Deletion
(inframe_deletion +2 more)
Neoplasm of ovary
GLikely pathogenic
MAP3K1
(H470fs)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
PTEN
(Y155fs +1 more)
Duplication
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
MSH6
(L571fs +2 more)
Insertion
(frameshift variant)
Neoplasm of ovary
GPathogenic
BRIP1
(Q793H)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
GLikely pathogenic
BRCA2
(S1632fs)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
PTEN
(M35fs +1 more)
Deletion
(5 prime UTR variant +1 more)
Neoplasm of ovary
GPathogenic
TP53
(P20fs +2 more)
Indel
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
TP53
(I122fs +3 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(N179fs +3 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
Deletion
(splice acceptor variant)
Neoplasm of ovary
GLikely pathogenic
TP53
(W107* +2 more)
Single nucleotide variant
(nonsense +1 more)
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
(F109C +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
GLikely pathogenic
TP53
(Y168fs +3 more)
Microsatellite
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(S171fs +3 more)
Insertion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(I293fs +3 more)
Deletion
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
TP53
Deletion
(splice acceptor variant)
Neoplasm of ovary
GLikely pathogenic
TP53
(P152fs +2 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(F138L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(G266fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 1
GPathogenic
TP53
(C50fs +3 more)
Deletion
(frameshift variant)
Prostate cancer, hereditary, 1
+1 more
GConflicting classifications of pathogenicity
TP53
(Y181* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome 1
GPathogenic
TP53
(K132N +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(N80* +3 more)
Duplication
(nonsense)
Li-Fraumeni syndrome
GPathogenic
TP53
(E132* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome
GPathogenic
TP53
(M105I +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
+2 more
GPathogenic/Likely pathogenic
TP53
Single nucleotide variant
(splice acceptor variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic
TP53
(R117P +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(S181fs +3 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
Single nucleotide variant
(splice donor variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(D184fs +3 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(E204* +3 more)
Indel
(nonsense)
Neoplasm of ovary
GPathogenic
TP53
(H257fs +3 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(S51fs +1 more)
Duplication
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(V59del +3 more)
Microsatellite
(inframe_deletion)
Li-Fraumeni syndrome 1
GLikely pathogenic
TP53
(R158fs +2 more)
Deletion
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
TP53
(C17R +3 more)
Indel
(missense variant)
Neoplasm of ovary
GLikely pathogenic
TP53
(A83fs +1 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(V158E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TP53
(I100S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GPathogenic
TP53
(E154* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome
GPathogenic
TP53
(E182* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome
+1 more
GPathogenic
TP53
(L114* +1 more)
Single nucleotide variant
(nonsense)
Neoplasm of ovary
GPathogenic
TP53
Deletion
(splice donor variant)
Neoplasm of ovary
GPathogenic
TP53
Deletion
(nonsense +1 more)
Neoplasm of ovary
GPathogenic
TP53
(P87fs +1 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(F138fs +3 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(A37fs +1 more)
Duplication
(frameshift variant)
Neoplasm of ovary
GPathogenic
TP53
(R148S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GPathogenic/Likely pathogenic
RAD51C
Single nucleotide variant
(splice donor variant)
Breast-ovarian cancer, familial, susceptibility to, 3
GLikely pathogenic
MSH2
Insertion
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA1, LOC126862571
(L1365V +21 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(N588* +20 more)
Duplication
(nonsense +1 more)
Neoplasm of ovary
GPathogenic
BRCA1
Deletion
Neoplasm of ovary
GPathogenic
BRCA1
Deletion
Neoplasm of ovary
GPathogenic
BRCA1
Deletion
Neoplasm of ovary
GPathogenic
BRCA1
(E116* +5 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
MSH6
(K196fs +2 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
PTEN
(L148fs +2 more)
Deletion
(frameshift variant)
Neoplasm of ovary
GPathogenic
BARD1
(K438N +1 more)
Single nucleotide variant
(missense variant +2 more)
Neoplasm of ovary
GLikely pathogenic
BRCA1
(S434fs +20 more)
Duplication
(intron variant +1 more)
Neoplasm of ovary
GPathogenic
RAD51D, RAD51L3-RFFL
Single nucleotide variant
(splice donor variant +1 more)
Neoplasm of ovary
GLikely pathogenic
MAP3K1
Deletion
(inframe_deletion)
Neoplasm of ovary
GLikely pathogenic
MSH6
(E946* +2 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA2
Single nucleotide variant
(splice donor variant)
Neoplasm of ovary
GLikely pathogenic
BRCA1
(E986fs +20 more)
Deletion
(frameshift variant +1 more)
Neoplasm of ovary
GPathogenic
Format
Items per page
Sort by
Choose Destination