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Items: 1 to 100 of 406

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRPPA
(K115fs)
Insertion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
GLikely pathogenic
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
(R126H)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely pathogenic
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, LOC129998005
(P5fs)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Deletion
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GBenign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, LOC129998004
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
(Q113*)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
(G299fs +2 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA, LOC129998005
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely pathogenic
CRPPA
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
(D240G +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Indel
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
(V371A +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, LOC129998004
(G61R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
(F236V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, CRPPA-AS1
(K330* +2 more)
Duplication
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA
(G41R)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
(C329* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GPathogenic
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
(I285S +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(W212R +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(intron variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
(H208R)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(R116G)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
Deletion
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GPathogenic
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
(T241I +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA, LOC129998005
(A9fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GPathogenic
CRPPA
(M239R +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
(E303Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(I71V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(M254V +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(H155Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
Duplication
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GBenign
CRPPA, LOC129389757
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
(I142M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(P214L)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Insertion
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, LOC129389757
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, LOC129998005
Deletion
(inframe_deletion +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(S247F +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA
(I402T +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, LOC129998004
(M60L)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
(S361G +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
(R205L)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, LOC129998005
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, LOC129998005
(S34N)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, LOC129998005
(T27fs)
Microsatellite
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GPathogenic
CRPPA, LOC129998005
Deletion
(inframe_deletion +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GUncertain significance
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, CRPPA-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA, LOC129998004
(E58K)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GLikely benign
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GLikely benign
CRPPA
(P40A)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+1 more
GUncertain significance
CRPPA
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
GPathogenic
CRPPA, CRPPA-AS1
(E353fs +2 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
GUncertain significance
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