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Links from MedGen

Items: 1 to 100 of 358

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(S44L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(P16S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(A102P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(S300F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(R332Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(Y377C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(W30C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(P11T)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
(E263D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(P83S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(R88C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
(Q343E +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(P113R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(P19S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(D243N)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(Y365C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(V3A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A74G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(Q52H)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(E285del)
Deletion
(inframe_deletion +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(V313fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(S116T)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(R109G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(S94P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(M150I)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Duplication
(inframe_insertion +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(E210K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(S245P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A308V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(P83R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A57S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(I179V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(R79P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Duplication
(inframe_insertion +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(R82P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(L264P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(P113A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(C303G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A70V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(R56W)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
HNRNPDL
(R106G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(H89fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(P34R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(P83Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(W30G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Indel
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(V237G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Deletion
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(P40L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(F90L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A329P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A103P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
(N362S)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
HNRNPDL
(P113L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(Q96R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(H60D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(S28F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
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