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Links from MedGen

Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPAGT1
Single nucleotide variant
(splice donor variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely pathogenic
DPAGT1, LOC126861360
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1, LOC126861360
(S57F)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(T142S)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1, LOC126861360
(T27fs)
Deletion
(frameshift variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GPathogenic
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
(Y244*)
Single nucleotide variant
(nonsense)
DPAGT1-congenital disorder of glycosylation
+1 more
GPathogenic
DPAGT1, LOC126861360
(H92D)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
(P55A)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
(I54F)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
GLikely pathogenic
DPAGT1
Deletion
DPAGT1-congenital disorder of glycosylation
GLikely pathogenic
DPAGT1
(N143S)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1, LOC126861360
(V26I)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+2 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(R303L)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(Y244C)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
LOC126861360, DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(G237A)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(V96L)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1, LOC126861360
(L41I)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1, LOC126861360
(L41V)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(V151E)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(F231L)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(Q400H)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(R403*)
Single nucleotide variant
(nonsense)
DPAGT1-congenital disorder of glycosylation
+2 more
GUncertain significance
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(S198T)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1, LOC126861360
(V26A)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1
(V345I)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1
(R156S)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(F284L)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1, LOC126861360
(S5W)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1, LOC126861360
(H35Y)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
(F227L)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
(R403Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(splice donor variant)
DPAGT1-congenital disorder of glycosylation
GLikely pathogenic
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+2 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1, LOC126861360
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
DPAGT1-related condition
+2 more
GLikely benign
DPAGT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 13
+1 more
GLikely benign
DPAGT1
(L340F)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
+1 more
GUncertain significance
DPAGT1
(I388L)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
LOC126861360, DPAGT1
(H93D)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(P135L)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
(R303H)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
DPAGT1
Single nucleotide variant
(intron variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GUncertain significance
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