U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFX6
(S232L)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+1 more
GUncertain significance
RFX6
(R377Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RFX6
(Q764fs)
Duplication
(frameshift variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GLikely pathogenic
Format
Sort by
Choose Destination