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Items: 1 to 100 of 438

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
BTC, CABS1
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LOC129992714, LOC129992715
+236 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
ABCG2, ABRAXAS1
+251 more
Copy number loss
See cases
GPathogenic
ANTXR2, BMP3
+83 more
Copy number loss
See cases
GUncertain significance
BMP3, CDS1
+137 more
Copy number loss
See cases
GPathogenic
ABRAXAS1, AFF1
+146 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+244 more
Copy number loss
See cases
GPathogenic
ABRAXAS1, BMP3
+90 more
Copy number loss
See cases
GLikely pathogenic
COPS4, COQ2
+68 more
Copy number loss
See cases
GPathogenic
ABRAXAS1, COPS4
+74 more
Copy number loss
See cases
GLikely pathogenic
COPS4, COQ2
+60 more
Copy number loss
See cases
GPathogenic
COPS4, COQ2
+60 more
Copy number loss
See cases
GPathogenic
HNRNPDL
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(Y363H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
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
Indel
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
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
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Deletion
(intron variant)
not provided
GBenign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Insertion
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(S397N)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(N386S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(G381V)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(Y379C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(D378H)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
HNRNPDL
(D378N)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GConflicting classifications of pathogenicity
HNRNPDL
(Y377C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(G376E)
Single nucleotide variant
(missense variant +2 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
(N370H)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HNRNPDL
(Q369E)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(G366A)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GConflicting classifications of pathogenicity
HNRNPDL
(Y365C)
Single nucleotide variant
(missense variant +2 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
(A364T)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(N362S)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(F350S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
HNRNPDL
Single nucleotide variant
(intron variant)
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
Duplication
(intron variant)
not provided
GBenign
HNRNPDL
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPDL
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GBenign
HNRNPDL
Single nucleotide variant
(intron variant)
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
(intron variant)
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
(R338C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
Deletion
(inframe_deletion +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
+1 more
GUncertain significance
HNRNPDL
(G333D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(R332Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(G330A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(A329V)
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
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
(Q321del)
Microsatellite
(inframe_deletion +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
Microsatellite
(inframe_deletion +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(Q318*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
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
(A308V)
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
(C303F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(C303G)
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
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
Deletion
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GBenign
HNRNPDL
Single nucleotide variant
(intron variant)
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
(intron variant)
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
(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
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GUncertain significance
HNRNPDL
(E292K)
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
(P286L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HNRNPDL
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1G
GLikely benign
HNRNPDL
(E285del)
Deletion
(inframe_deletion +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
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