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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRPPA
(L436S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA
(A434V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRPPA, LOC129389757
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GConflicting classifications of pathogenicity
CRPPA, LOC129389757
(D418G +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+1 more
GUncertain significance
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)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+3 more
GPathogenic/Likely pathogenic
CRPPA, CRPPA-AS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GConflicting classifications of pathogenicity
CRPPA, CRPPA-AS1
(K353R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA-AS1, CRPPA
(Q352K +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+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-AS1, CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+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, CRPPA-AS1
(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
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA
(V305G +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
(H297P +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
(D294G +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GConflicting classifications of pathogenicity
CRPPA
(T291K +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
(V287I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GConflicting classifications of pathogenicity
CRPPA
(R280I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRPPA
Duplication
(intron variant)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GConflicting classifications of pathogenicity
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GConflicting classifications of pathogenicity
CRPPA
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GConflicting classifications of pathogenicity
CRPPA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA
(E274D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRPPA
(L270F +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CRPPA
(R268* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CRPPA
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CRPPA
(E239K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
CRPPA
(T238I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRPPA
Microsatellite
(intron variant)
not specified
+4 more
GBenign/Likely benign
CRPPA
(Y226C)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA
(Y223C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+3 more
GConflicting classifications of pathogenicity
CRPPA
(Q215*)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GPathogenic
CRPPA
(P214S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CRPPA
(E212D)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
CRPPA
(Y201F)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
CRPPA
(V187A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CRPPA
(R184Q)
Single nucleotide variant
(missense variant +2 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+3 more
GConflicting classifications of pathogenicity
CRPPA
(G178R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CRPPA
(I142N)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CRPPA
(R128G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GConflicting classifications of pathogenicity
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GConflicting classifications of pathogenicity
CRPPA
(R116H)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+3 more
GUncertain significance
CRPPA
(R116C)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+4 more
GBenign/Likely benign
CRPPA
(I109del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
CRPPA
(S107I)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+4 more
GUncertain significance
CRPPA
(E103K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CRPPA
(I93del)
Deletion
(inframe_deletion +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+3 more
GConflicting classifications of pathogenicity
CRPPA
(I93V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CRPPA
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GPathogenic/Likely pathogenic
CRPPA
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA
(A83V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA
(T80N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA
(R74T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
CRPPA
(P70R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA
(Q67P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
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
CRPPA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CRPPA
(E39D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CRPPA, LOC129998005
(T27P)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+5 more
GConflicting classifications of pathogenicity
CRPPA, LOC129998005
(H26P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
CRPPA, LOC129998005
(G23C)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
LOC129998005, CRPPA
(S19R)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
CRPPA, LOC129998005
(S19fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GPathogenic/Likely pathogenic
CRPPA, LOC129998005
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+3 more
GConflicting classifications of pathogenicity
CRPPA, LOC129998005
(G15V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2U
+2 more
GUncertain significance
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