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Links from MedGen

Items: 1 to 100 of 180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLB1
(N247D +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
GUncertain significance
GLB1
(F357fs +3 more)
Indel
(frameshift variant)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(E158* +2 more)
Single nucleotide variant
(nonsense +1 more)
Infantile GM1 gangliosidosis
GPathogenic
GLB1
(D14Y +2 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1, LOC129936434
+1 more
(M1I)
Single nucleotide variant
(missense variant +2 more)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(D343G +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
GUncertain significance
GLB1, LOC129936434
+1 more
Deletion
(5 prime UTR variant +1 more)
Infantile GM1 gangliosidosis
GUncertain significance
GLB1
(Y374* +3 more)
Single nucleotide variant
(nonsense)
Infantile GM1 gangliosidosis
GPathogenic
GLB1
(D211fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(V329fs +3 more)
Microsatellite
(frameshift variant)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(L125fs +2 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(G133fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(P137fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(Y243* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(Q148fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(G160V +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(D540fs +3 more)
Duplication
(frameshift variant +1 more)
Infantile GM1 gangliosidosis
GUncertain significance
GLB1
Single nucleotide variant
(splice acceptor variant +1 more)
GM1 gangliosidosis
+2 more
GPathogenic/Likely pathogenic
GLB1
(R419Q +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 3
+4 more
GConflicting classifications of pathogenicity
GLB1
(K351fs +3 more)
Deletion
(frameshift variant)
Infantile GM1 gangliosidosis
+4 more
GPathogenic/Likely pathogenic
GLB1
(D168* +2 more)
Duplication
(nonsense +1 more)
GM1 gangliosidosis type 2
+4 more
GPathogenic
GLB1
(G238D +2 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+2 more
GPathogenic/Likely pathogenic
GLB1
(P236S +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
GUncertain significance
TMPPE, GLB1
+1 more
Duplication
(5 prime UTR variant +1 more)
Infantile GM1 gangliosidosis
GPathogenic
GLB1
Deletion
(intron variant)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(H137L +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
GPathogenic
GLB1
(K112fs +2 more)
Deletion
(frameshift variant +1 more)
Infantile GM1 gangliosidosis
+2 more
GPathogenic
GLB1
(Y139H +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
Gnot provided
GLB1
(I358fs +3 more)
Microsatellite
(frameshift variant)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(D151Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
GPathogenic
GLB1
(L206P +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+2 more
GPathogenic/Likely pathogenic
GLB1
(R464Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
GLB1
(L143P +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(M422T +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
+3 more
GUncertain significance
GLB1
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GBenign
GLB1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
GLB1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
GLB1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
GLB1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
GLB1
Single nucleotide variant
(intron variant)
Infantile GM1 gangliosidosis
+1 more
GLikely benign
GLB1
(E128* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(W142* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis
+4 more
GPathogenic/Likely pathogenic
GLB1
(Y175* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(G307* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis type 3
+2 more
GLikely pathogenic
GLB1
(Y50C +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-B
+1 more
GPathogenic
GLB1
(L109Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(S302fs +3 more)
Microsatellite
(frameshift variant)
GM1 gangliosidosis type 2
+4 more
GPathogenic/Likely pathogenic
GLB1
(H410Y +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
GPathogenic
GLB1
(P184L +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(T239M +2 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GPathogenic/Likely pathogenic
GLB1
(W287* +3 more)
Single nucleotide variant
(nonsense)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
(E129Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
GLikely pathogenic
GLB1
Single nucleotide variant
(synonymous variant +1 more)
GM1 gangliosidosis
+5 more
GConflicting classifications of pathogenicity
GLB1
(N111K +3 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
GUncertain significance
GLB1
(L136del +3 more)
Deletion
(inframe_deletion)
GM1 gangliosidosis type 2
+2 more
GConflicting classifications of pathogenicity
GLB1
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-B
+2 more
GBenign
GLB1
(W273L +3 more)
Indel
(missense variant)
GM1 gangliosidosis
+2 more
GPathogenic/Likely pathogenic
GLB1
(K142fs +2 more)
Deletion
(frameshift variant +1 more)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
Single nucleotide variant
(intron variant +1 more)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(F63Y +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(D491N +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GUncertain significance
GLB1
(K346N +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+4 more
GPathogenic/Likely pathogenic
GLB1
Deletion
(splice donor variant +1 more)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
(W582* +3 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-B
+5 more
GPathogenic/Likely pathogenic
GLB1
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic/Likely pathogenic
GLB1
(H209fs +2 more)
Deletion
(frameshift variant +1 more)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
(D149fs +2 more)
Deletion
(frameshift variant +1 more)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
Single nucleotide variant
(stop lost +1 more)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
Single nucleotide variant
(splice acceptor variant)
GM1 gangliosidosis
+4 more
GPathogenic/Likely pathogenic
GLB1
(D641fs +3 more)
Deletion
(frameshift variant +1 more)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(T152fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis
+4 more
GPathogenic
GLB1
(M132T +2 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+3 more
GConflicting classifications of pathogenicity
GLB1
(Y324C +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
Deletion
(splice donor variant)
GM1 gangliosidosis type 2
+4 more
GPathogenic/Likely pathogenic
GLB1
(Q97*)
Single nucleotide variant
(synonymous variant +1 more)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
Single nucleotide variant
(splice donor variant)
GM1 gangliosidosis type 2
+4 more
GPathogenic/Likely pathogenic
GLB1
(Q572* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis type 2
+4 more
GPathogenic/Likely pathogenic
GLB1
(G134V +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis type 2
+4 more
GConflicting classifications of pathogenicity
GLB1
(R660* +3 more)
Single nucleotide variant
(nonsense +1 more)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(Y485C +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+4 more
GConflicting classifications of pathogenicity
GLB1, LOC129936434
+1 more
Deletion
(5 prime UTR variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+5 more
GPathogenic/Likely pathogenic
GLB1
(Y83C +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(N474fs +3 more)
Insertion
(frameshift variant)
GM1 gangliosidosis type 2
+4 more
GPathogenic/Likely pathogenic
GLB1
(H112P +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis type 2
+4 more
GConflicting classifications of pathogenicity
GLB1
(N266S +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(Q255H +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
Single nucleotide variant
(splice donor variant)
GM1 gangliosidosis type 2
+4 more
GPathogenic/Likely pathogenic
GLB1
(I51N +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+3 more
GUncertain significance
GLB1
(V186fs +2 more)
Deletion
(frameshift variant +1 more)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
(N437S +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-B
+5 more
GConflicting classifications of pathogenicity
GLB1
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GLikely pathogenic
GLB1
(M480V +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GLB1
(N484K +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GConflicting classifications of pathogenicity
GLB1
(S149F +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis type 2
+4 more
GConflicting classifications of pathogenicity
GLB1
Single nucleotide variant
(splice donor variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+5 more
GPathogenic/Likely pathogenic
GLB1
(L471fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
(A280fs +2 more)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GPathogenic/Likely pathogenic
GLB1
(E537* +3 more)
Single nucleotide variant
(nonsense)
GM1 gangliosidosis type 2
+3 more
GLikely pathogenic
GLB1
(R148S +2 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+6 more
GPathogenic/Likely pathogenic
GLB1
(D441N +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 3
+4 more
GPathogenic/Likely pathogenic
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