U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFX6
(Q112R)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GUncertain significance
LOC126859771, RFX6
(P570L)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GUncertain significance
LOC127407129, RFX6
(G70R)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GUncertain significance
RFX6
(E130G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RFX6
Single nucleotide variant
(intron variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+1 more
GBenign/Likely benign
LOC126859771, RFX6
Duplication
(intron variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GBenign
RFX6
(S232L)
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
RFX6
(R377Q)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+1 more
GUncertain significance
RFX6
(G800A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GBenign/Likely benign
RFX6
(V329I)
Single nucleotide variant
(missense variant)
RFX6-related disorder
+3 more
GBenign/Likely benign
RFX6
(I439fs)
Deletion
(frameshift variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GPathogenic
RFX6
(R385Q)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GLikely pathogenic
LOC126859771, RFX6
(R578P)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+4 more
GConflicting classifications of pathogenicity
RFX6
(S854L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+3 more
GConflicting classifications of pathogenicity
RFX6
(R866*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RFX6
(R726*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RFX6
(R181W)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GLikely pathogenic
LOC127407129, RFX6
(A17E)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GBenign
RFX6
Single nucleotide variant
(synonymous variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+1 more
GBenign/Likely benign
RFX6
(H443Y)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+3 more
GBenign/Likely benign
RFX6
Deletion
(splice donor variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GPathogenic
RFX6
(R181Q)
Single nucleotide variant
(missense variant)
RFX6-related disorder
GLikely pathogenic
RFX6
(S217P)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GLikely pathogenic
RFX6
Single nucleotide variant
(splice donor variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GPathogenic
RFX6
Single nucleotide variant
(intron variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+1 more
GPathogenic
RFX6
Single nucleotide variant
(splice donor variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination