U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPIB, SNX22
(R190Q)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SNX22, PPIB
(G120D)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta type 9
+2 more
GUncertain significance
PPIB, SNX22
(S117R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PPIB
(R95S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(K89I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(N75S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
PPIB
(V57A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(K45R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(V44I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPIB
(P40L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(G39W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPIB
(A19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PPIB
(L17V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(R7S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
(R3P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
Format
Items per page
Sort by
Choose Destination