U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRPPA, LOC129998004
(P65S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, LOC129998004
(T64I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, LOC129998004
(V62fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GPathogenic/Likely pathogenic
CRPPA, LOC129998004
(G54V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
CRPPA, LOC129998004
(G54R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, LOC129998004
(V47M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
CRPPA, LOC129998004
(A46P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination