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Links from MedGen

Items: 1 to 100 of 1435

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPTAB
Deletion
Mucolipidosis type II
+1 more
GPathogenic
GNPTAB
(N500fs)
Deletion
(frameshift variant)
Mucolipidosis type II
GLikely pathogenic
GNPTAB
(K448*)
Single nucleotide variant
(nonsense)
Mucolipidosis type II
GPathogenic
GNPTAB
(N1190K)
Single nucleotide variant
(missense variant)
Mucolipidosis type II
GUncertain significance
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
(L762fs)
Deletion
(frameshift variant)
Mucolipidosis type II
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(E1029fs)
Microsatellite
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(A1034fs)
Duplication
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
(F1123fs)
Deletion
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(Q1067*)
Single nucleotide variant
(nonsense)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(Q1199*)
Single nucleotide variant
(nonsense)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
(Q913*)
Single nucleotide variant
(nonsense)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
(K979fs)
Deletion
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Deletion
(nonsense)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(splice acceptor variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
(Y49*)
Single nucleotide variant
(nonsense)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Deletion
(splice acceptor variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely pathogenic
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(T620fs)
Deletion
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
(N1190fs)
Deletion
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(splice acceptor variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely pathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Deletion
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(splice acceptor variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely pathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(S909A)
Single nucleotide variant
(missense variant)
Pseudo-Hurler polydystrophy
+1 more
GUncertain significance
GNPTAB
(E833*)
Single nucleotide variant
(nonsense)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(L5P)
Single nucleotide variant
(missense variant)
Pseudo-Hurler polydystrophy
+1 more
GUncertain significance
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(splice donor variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely pathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Pseudo-Hurler polydystrophy
+1 more
GLikely benign
GNPTAB
(S472fs)
Deletion
(frameshift variant)
Pseudo-Hurler polydystrophy
+1 more
GPathogenic
GNPTAB
Single nucleotide variant
(intron variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Deletion
(nonsense)
Mucolipidosis type II
+1 more
GPathogenic
GNPTAB
Indel
(splice donor variant)
Mucolipidosis type II
+1 more
GLikely pathogenic
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(synonymous variant)
Mucolipidosis type II
+1 more
GLikely benign
GNPTAB
Single nucleotide variant
(intron variant)
Mucolipidosis type II
+1 more
GLikely benign
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