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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNS
(F267L +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic
GALNS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(G105S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(F100del +2 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic/Likely pathogenic
GALNS
Deletion
(inframe_deletion)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic
GALNS
(V48G +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(R201H +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(P196fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic
GALNS
(T128M +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(F121V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
GALNS
(D233N +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(A107T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(R100L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(H144P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(P151T +4 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(H172Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(G116S +1 more)
Single nucleotide variant
(missense variant +1 more)
GALNS-related disorder
+2 more
GPathogenic
GALNS, LOC126862447
(A492T +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+1 more
GConflicting classifications of pathogenicity
GALNS
(N164fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(F167fs +1 more)
Deletion
(frameshift variant +1 more)
Morquio syndrome
+2 more
GPathogenic
GALNS
Single nucleotide variant
(splice acceptor variant)
Morquio syndrome
+1 more
GLikely pathogenic
GALNS
(Q111* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic
GALNS
(F156L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GPathogenic/Likely pathogenic
GALNS
(S80L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GPathogenic/Likely pathogenic
GALNS
(R61W +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
+2 more
GPathogenic/Likely pathogenic
GALNS
(A291S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
APRT, GALNS
+1 more
Single nucleotide variant
not provided
+2 more
GBenign/Likely benign
GLB1, LOC129936434
Single nucleotide variant
GM1 gangliosidosis
+1 more
GUncertain significance
GLB1, LOC129936434
+1 more
Single nucleotide variant
(5 prime UTR variant)
GM1 gangliosidosis
+1 more
GUncertain significance
GLB1
(H535D +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+1 more
GUncertain significance
GLB1
Microsatellite
(intron variant)
GM1 gangliosidosis
+2 more
GConflicting classifications of pathogenicity
GALNS
(V134I +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
GUncertain significance
GALNS
(P151T +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
+1 more
GPathogenic/Likely pathogenic
GALNS
(F284V +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+1 more
GConflicting classifications of pathogenicity
GALNS
(I416T +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+1 more
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
GUncertain significance
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GBenign/Likely benign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GUncertain significance
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GBenign/Likely benign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+3 more
GBenign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign/Likely benign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+2 more
GBenign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+2 more
GBenign
APRT, GALNS
Single nucleotide variant
(synonymous variant)
Morquio syndrome
+2 more
GBenign/Likely benign
APRT, GALNS
Single nucleotide variant
(synonymous variant)
Morquio syndrome
+2 more
GBenign/Likely benign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+2 more
GBenign/Likely benign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+2 more
GLikely benign
GALNS, APRT
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+2 more
GBenign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
+1 more
GConflicting classifications of pathogenicity
GALNS
(G47R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GALNS
(S287L +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+2 more
GPathogenic/Likely pathogenic
GALNS
(G139S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
GALNS
(M318R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
GALNS
(G247D +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
Microsatellite
(inframe_deletion +1 more)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
GALNS
(R94H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
GALNS
(S82L +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS
(W520* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GPathogenic/Likely pathogenic
GALNS
(M391V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GPathogenic
GALNS
(G340D +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(T312S +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+1 more
GPathogenic/Likely pathogenic
GALNS
(W230* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic
GALNS
(G301C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GALNS
(A291T +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GPathogenic/Likely pathogenic
GALNS
(I113F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GALNS
(R386C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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