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Items: 1 to 100 of 1705

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
BEST2, DHPS
+57 more
Copy number loss
See cases
GUncertain significance
MAN2B1, ZNF564
Deletion
(intron variant)
Deficiency of alpha-mannosidase
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
MAN2B1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
MAN2B1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(Q1004* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
(A1002T +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
+1 more
GUncertain significance
MAN2B1
(L1000P +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(F1000S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(R997H +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GBenign
MAN2B1
(R997C +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(E992fs +1 more)
Duplication
(frameshift variant)
not specified
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(T990fs +1 more)
Deletion
(frameshift variant)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
(I990V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAN2B1
(N989S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(P987L +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(P981L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MAN2B1
(H978R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(P978T +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(P975R +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(P975L +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Deletion
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
not provided
GBenign
MAN2B1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAN2B1
Duplication
(intron variant)
Deficiency of alpha-mannosidase
GBenign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Duplication
(splice donor variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
MAN2B1
(T974fs +1 more)
Microsatellite
(frameshift variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
MAN2B1
(G975fs +1 more)
Deletion
(frameshift variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
MAN2B1
(T974fs +1 more)
Duplication
(frameshift variant)
Deficiency of alpha-mannosidase
GPathogenic/Likely pathogenic
MAN2B1
(N973D +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(T970I +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(K969R +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(L967P +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(E962fs +1 more)
Deletion
(frameshift variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
MAN2B1
(R961fs +1 more)
Deletion
(frameshift variant)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(S966A +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(E962fs +1 more)
Deletion
(frameshift variant)
not specified
GUncertain significance
MAN2B1
(E963* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
(R962P +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(R962H +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(R961C +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
+1 more
GBenign/Likely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
(Q959R +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
(T955fs +1 more)
Deletion
(frameshift variant)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(V957A +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
+1 more
GConflicting classifications of pathogenicity
MAN2B1
(L956R +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GConflicting classifications of pathogenicity
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
+2 more
GConflicting classifications of pathogenicity
MAN2B1
(T955M +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
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