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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRPPA, CRPPA-AS1
(P416S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
(L412V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CRPPA, CRPPA-AS1
(L407S +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+4 more
GBenign/Likely benign
CRPPA-AS1, CRPPA
(I406M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRPPA, CRPPA-AS1
(A398T +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GUncertain significance
CRPPA-AS1, CRPPA
(E396* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
CRPPA, CRPPA-AS1
(K387N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, CRPPA-AS1
(P384L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, CRPPA-AS1
(P383T +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
(H375fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CRPPA, CRPPA-AS1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GPathogenic
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
(V372del +2 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
(K353R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, CRPPA-AS1
(Q352K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CRPPA-AS1, CRPPA
(T294fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+3 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
(I331V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRPPA, CRPPA-AS1
(L327V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA-AS1, CRPPA
(H326Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CRPPA-AS1, CRPPA
(T316K +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GBenign/Likely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GConflicting classifications of pathogenicity
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