U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSF2BP
(C128R)
Single nucleotide variant
(missense variant)
Premature ovarian failure 19
GLikely pathogenic
HSF2BP
(L186P)
Single nucleotide variant
(missense variant)
Premature ovarian failure 19
GLikely pathogenic
HSF2BP
(S167L)
Single nucleotide variant
(missense variant)
Premature ovarian failure 19
GUncertain significance
BRME1, CC2D1A
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 3
+2 more
GPathogenic
Format
Sort by
Choose Destination