U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGMO, AGR2
+130 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
CRPPA, LOC129998005
(T27P)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CRPPA, LOC129998005
(G23C)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+3 more
GBenign/Likely benign
CRPPA, LOC129998005
(S19fs)
Indel
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CRPPA, LOC129998005
(S19R)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
CRPPA, LOC129998005
(S19fs)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CRPPA, LOC129998005
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CRPPA, LOC129998005
Deletion
(inframe_deletion +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GUncertain significance
CRPPA, LOC129998005
(P11R)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GBenign/Likely benign
CRPPA, LOC129998005
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
CRPPA, LOC129998005
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
Format
Items per page
Sort by
Choose Destination