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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BARD1
(I388L +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
SYNE1
(I8096L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTDSS1
(I223L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO3
(I308L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
GALC
(I369L +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
BRCA1
(I1402L +9 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
MAP2K2
(I369L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
ADSL
(I305L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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