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Items: 1 to 100 of 308

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAG2, BEND6
+171 more
Copy number loss
See cases
GPathogenic
HMGCLL1, LOC129996660
+88 more
Copy number loss
Orofacial cleft
GUncertain significance
BAG2, BEND6
+147 more
Copy number gain
See cases
GPathogenic
BAG2, BEND6
+28 more
Copy number loss
See cases
GUncertain significance
BAG2, BEND6
+27 more
Copy number gain
See cases
GUncertain significance
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23, BAG2
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, BAG2
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, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
RAB23, BAG2
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
RAB23, BAG2
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, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23, BAG2
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
+1 more
GUncertain significance
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GBenign
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
BAG2, RAB23
Duplication
(3 prime UTR variant +1 more)
Carpenter syndrome
GUncertain significance
RAB23, BAG2
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)
Carpenter syndrome
+1 more
GLikely benign
BAG2, RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
Carpenter syndrome
+1 more
GUncertain significance
BAG2, RAB23
Microsatellite
(3 prime UTR variant +1 more)
Carpenter syndrome
GUncertain significance
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23, BAG2
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)
Carpenter syndrome
GUncertain significance
RAB23, BAG2
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
RAB23, BAG2
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(3 prime UTR variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Microsatellite
(3 prime UTR variant +1 more)
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)
Carpenter syndrome
+1 more
GLikely benign
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
RAB23
Single nucleotide variant
(synonymous variant +1 more)
RAB23-related Carpenter syndrome
+1 more
GConflicting classifications of pathogenicity
RAB23
Single nucleotide variant
(stop lost +1 more)
See cases
+1 more
GConflicting classifications of pathogenicity
RAB23
(I236V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RAB23
(S235R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RAB23
(C234S)
Single nucleotide variant
(missense variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(T224S)
Single nucleotide variant
(missense variant +1 more)
RAB23-related Carpenter syndrome
+1 more
GUncertain significance
RAB23
(Q222fs)
Microsatellite
(frameshift variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
(Q222K)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
(Q222E)
Single nucleotide variant
(missense variant +1 more)
RAB23-related Carpenter syndrome
GUncertain significance
RAB23
(R218T)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(G211S)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(G207S)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
RAB23
(S206T)
Single nucleotide variant
(missense variant +1 more)
RAB23-related Carpenter syndrome
+1 more
GUncertain significance
RAB23
(Q204R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RAB23
(G203D)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
(G203S)
Single nucleotide variant
(missense variant +1 more)
Carpenter syndrome
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(S197F)
Single nucleotide variant
(missense variant +1 more)
Carpenter syndrome
GUncertain significance
RAB23
(T196K)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
Single nucleotide variant
(non-coding transcript variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(V193F)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Duplication
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
RAB23-related disorder
GUncertain significance
RAB23
Deletion
(intron variant)
RAB23-related disorder
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(intron variant)
Carpenter syndrome
GLikely benign
RAB23
(S188N)
Single nucleotide variant
(missense variant +1 more)
RAB23-related disorder
GUncertain significance
RAB23
(S187fs)
Deletion
(frameshift variant +1 more)
RAB23-related Carpenter syndrome
GLikely pathogenic
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
RAB23
(T184M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
RAB23
Single nucleotide variant
(synonymous variant +1 more)
Carpenter syndrome
GLikely benign
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