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Links from MedGen

Items: 1 to 100 of 539

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DAG1
(A38fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
GLikely pathogenic
DAG1
(L86fs)
Indel
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
GLikely pathogenic
DAG1
(D639N)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(P449S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(R2K)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(G601R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GLikely benign
DAG1
(P366L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(E155K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(L11P)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(P827R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(R640*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
(K582R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(A606V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(I324T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(L20H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
(R457L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
(P724T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(S336F)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+2 more
GUncertain significance
DAG1
(V721M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(S485R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(N694S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(S239L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(P741S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(A871V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(L540V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(M561V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(V595I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(I719V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(S807F)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(L564F)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(P810Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(P363A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(R389W)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(T482A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(T445M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(V736M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(W297R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
(R282M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(R2T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
(K632T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(I468V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(N661D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(T343I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Deletion
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
(Q673R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+1 more
GLikely benign
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(T734I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(T444I)
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
+1 more
GLikely benign
DAG1
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(R461W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DAG1
(A628S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(V736G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(P724S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GLikely benign
DAG1
(G709fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
DAG1
(H161fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2P
+1 more
GUncertain significance
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