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Links from OMIM

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFWD3
(L69fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Inflammation of the large intestine
+19 more
GPathogenic
BRCA1, LOC126862571
(E1257fs +21 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOC130056864, RAD51
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ATM, C11orf65
Insertion
(intron variant)
Familial cancer of breast
+1 more
GPathogenic
CYP17A1, CYP17A1-AS1
(R239*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 17-alpha-monooxygenase
+1 more
GPathogenic
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