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Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DAG1
(S14fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
DAG1
(W31C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
(M50V)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DAG1
(P62L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(T71K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+3 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(I82V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(L86F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DAG1
(I93T)
Single nucleotide variant
(missense variant)
DAG1-related condition
+3 more
GConflicting classifications of pathogenicity
DAG1
Deletion
(intron variant)
not specified
+4 more
GBenign/Likely benign
DAG1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(D111N)
Single nucleotide variant
(missense variant)
DAG1-related condition
+4 more
GBenign/Likely benign
DAG1
(G119V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GConflicting classifications of pathogenicity
DAG1
(H129Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
(A135S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(P158L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+3 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(V178L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DAG1
(S180F)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DAG1
(T200S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+3 more
GBenign/Likely benign
DAG1
(I208T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
(H212N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(N232S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+3 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(V277I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
(K303del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
DAG1-related condition
+4 more
GConflicting classifications of pathogenicity
DAG1
(R311P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
(T322I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
(T341I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DAG1
(P349L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(T351A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
(T369A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(R402H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(R402L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GConflicting classifications of pathogenicity
DAG1
(T404A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(M405I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
DAG1-related condition
+4 more
GBenign/Likely benign
DAG1
(T414S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+3 more
GUncertain significance
DAG1
(T421fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
DAG1
(P427L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(T436A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(T436M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+3 more
GConflicting classifications of pathogenicity
DAG1
(R454W)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
(R457Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(T478A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
(R479H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(S485N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(P493S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
(Y524C)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
(T531del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
DAG1
(R541Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GConflicting classifications of pathogenicity
DAG1
(L564I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+3 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+3 more
GConflicting classifications of pathogenicity
DAG1
(T580I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(E592K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(R598C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(Q600R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(R603G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GConflicting classifications of pathogenicity
DAG1
(K626del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(R652W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GConflicting classifications of pathogenicity
DAG1
(R679C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DAG1
(R679H)
Single nucleotide variant
(missense variant)
DAG1-related condition
+4 more
GBenign/Likely benign
DAG1
(R680Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(P690L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(A695T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
DAG1
(T708M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(R714L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
(V722G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DAG1
(P724R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
(A731V)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GConflicting classifications of pathogenicity
DAG1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DAG1
(V749I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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