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Links from MedGen

Items: 1 to 100 of 478

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129934128, MOGS
(G32fs)
Insertion
(frameshift variant +1 more)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(R700Q +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(W474* +1 more)
Single nucleotide variant
(nonsense)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-related condition
+1 more
GLikely benign
MOGS
(Q302fs +1 more)
Deletion
(frameshift variant)
MOGS-congenital disorder of glycosylation
GPathogenic
LOC129934128, MOGS
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(V432L +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
LOC129934128, MOGS
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(A19fs)
Duplication
(frameshift variant +1 more)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
LOC129934128, MOGS
Single nucleotide variant
(5 prime UTR variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(R455C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-related condition
+1 more
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
LOC129934128, MOGS
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(G315E +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(A292S +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(P294fs +1 more)
Deletion
(frameshift variant)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
LOC129934128, MOGS
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(K256T +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(S234N +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(intron variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(intron variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(W78* +1 more)
Single nucleotide variant
(nonsense)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(D152fs +1 more)
Duplication
(frameshift variant)
MOGS-congenital disorder of glycosylation
GLikely pathogenic
MOGS
(W200* +1 more)
Single nucleotide variant
(nonsense)
MOGS-congenital disorder of glycosylation
GUncertain significance
LOC129934128, MOGS
(G28W)
Single nucleotide variant
(missense variant +1 more)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(Y663H +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GLikely pathogenic
MOGS
(G303R +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
LOC129934128, MOGS
(M57T)
Single nucleotide variant
(missense variant +1 more)
MOGS-congenital disorder of glycosylation
GUncertain significance
INO80B, LBX2
+42 more
Deletion
not provided
GPathogenic
MOGS
(V115A +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(D493H +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(R714C +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(E5G)
Single nucleotide variant
(missense variant +1 more)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(P145L +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
+1 more
GUncertain significance
MOGS
(K172fs +1 more)
Deletion
(frameshift variant)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
(Q702* +1 more)
Single nucleotide variant
(nonsense)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(R6Q)
Single nucleotide variant
(missense variant +1 more)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(R429* +1 more)
Single nucleotide variant
(nonsense)
MOGS-congenital disorder of glycosylation
GLikely pathogenic
MOGS
(G301R +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
+1 more
GUncertain significance
LOC129934128, MOGS
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS, LOC129934128
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(V311A +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(G718D +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(A93T +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(P327L +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(D35fs +1 more)
Deletion
(frameshift variant)
MOGS-congenital disorder of glycosylation
GPathogenic
LOC129934128, MOGS
(R70G)
Single nucleotide variant
(intron variant +1 more)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(G544E +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(R645Q +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
LOC129934128, MOGS
Single nucleotide variant
(synonymous variant +1 more)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(G774V +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(S129N +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(D46H +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(P201L +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(Q159P +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(P12L)
Single nucleotide variant
(missense variant +1 more)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(intron variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(A401V +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(L277fs +1 more)
Duplication
(frameshift variant)
MOGS-congenital disorder of glycosylation
GPathogenic
MOGS
(V84I +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(G238R +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(L399P +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
Single nucleotide variant
(synonymous variant)
MOGS-congenital disorder of glycosylation
GLikely benign
MOGS
(G211R +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
MOGS
(Q684P +1 more)
Single nucleotide variant
(missense variant)
MOGS-congenital disorder of glycosylation
GUncertain significance
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