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Links from MedGen

Items: 1 to 100 of 389

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN1B1
(H655R +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GLikely pathogenic
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Deletion
(frameshift variant +2 more)
Rafiq syndrome
GPathogenic
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1, LOC130003078
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
(H497Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
LOC130003079, MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
+1 more
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
(V458I +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
LOC130003079, MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
(D414fs)
Deletion
(frameshift variant +1 more)
Rafiq syndrome
GPathogenic
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
LOC130003078, MAN1B1
(A11T)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GBenign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Microsatellite
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Deletion
(intron variant)
Rafiq syndrome
GBenign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GBenign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
(W75R +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
LOC130003079, MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
LOC130003078, MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
(D400H +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
(G302V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MAN1B1
(W172* +1 more)
Single nucleotide variant
(nonsense +1 more)
Rafiq syndrome
GPathogenic
MAN1B1
(S658fs)
Deletion
(frameshift variant +1 more)
Rafiq syndrome
GLikely pathogenic
MAN1B1
Duplication
Rafiq syndrome
GUncertain significance
EGFL7, PAXX
+73 more
Deletion
Rafiq syndrome
GPathogenic
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
ABCA2, ABO
+100 more
Duplication
Autosomal dominant nocturnal frontal lobe epilepsy 5
+4 more
GUncertain significance
LOC130003078, MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
(G302A +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(R561Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
+1 more
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
(R370Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Microsatellite
(splice donor variant)
Rafiq syndrome
GLikely benign
LOC130003079, MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
(M298V +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(V288M +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(R561Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
(P350L +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(M523T +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(non-coding transcript variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1, LOC130003079
(S19T +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
LOC130003078, MAN1B1
(S17P)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
LOC130003078, MAN1B1
Single nucleotide variant
(synonymous variant +1 more)
Rafiq syndrome
GLikely benign
MAN1B1
(A175V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(A190V +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
MAN1B1
(R213H +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(P562S +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(A683T)
Inversion
(synonymous variant +2 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(E456K +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
GUncertain significance
MAN1B1
(R583Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Rafiq syndrome
+1 more
GUncertain significance
MAN1B1
Single nucleotide variant
(intron variant)
Rafiq syndrome
GLikely benign
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