U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB23
Duplication
(intron variant)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
(S187fs)
Deletion
(frameshift variant +1 more)
RAB23-related Carpenter syndrome
GLikely pathogenic
RAB23
Single nucleotide variant
(splice donor variant)
RAB23-related Carpenter syndrome
GPathogenic
RAB23
(T184M)
Single nucleotide variant
(missense variant +1 more)
Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(stop lost +1 more)
Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
(T116A)
Single nucleotide variant
(missense variant)
RAB23-related Carpenter syndrome
+3 more
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
(C30W)
Single nucleotide variant
(missense variant +1 more)
Carpenter syndrome
+1 more
GUncertain significance
RAB23
(C130S)
Single nucleotide variant
(missense variant)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(intron variant)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
RAB23
(Q222E)
Single nucleotide variant
(missense variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
(T224S)
Single nucleotide variant
(missense variant +1 more)
RAB23-related condition
+2 more
GUncertain significance
RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant +1 more)
RAB23-related Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(synonymous variant +1 more)
RAB23-related Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(intron variant)
RAB23-related Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
(T75S)
Single nucleotide variant
(missense variant)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
RAB23-related Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GBenign
RAB23
Single nucleotide variant
(synonymous variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(L139P)
Single nucleotide variant
(missense variant)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
(A9T)
Single nucleotide variant
(missense variant +1 more)
Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(5 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
RAB23
(S101A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
(E179A)
Single nucleotide variant
(missense variant +1 more)
RAB23-related condition
+2 more
GConflicting classifications of pathogenicity
RAB23
(S206T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RAB23
(G207S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
RAB23
(R28*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RAB23
(A73V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAB23
(R80Q)
Single nucleotide variant
(missense variant)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
(Y29*)
Duplication
(nonsense +1 more)
RAB23-related Carpenter syndrome
GPathogenic
RAB23
(E137*)
Duplication
(nonsense)
RAB23-related condition
GPathogenic
RAB23
(L145*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
Format
Items per page
Sort by
Choose Destination