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Items: 1 to 100 of 383

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
LOC129931527, LOC129931528
+91 more
Copy number loss
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+67 more
Copy number gain
See cases
GUncertain significance
ASH1L, ASH1L-AS1
+45 more
Copy number gain
See cases
GUncertain significance
LOC106627981, GBA1
(A428fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease type II
+6 more
GLikely benign
GBA1, LOC106627981
(Q449* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GBA1, LOC106627981
(R535H +2 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R448S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(R535C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+2 more
GPathogenic
LOC106627981, GBA1
(W446* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease
GPathogenic
GBA1, LOC106627981
(H442R +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Gaucher disease
GUncertain significance
GBA1, LOC106627981
(G517S +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Gaucher disease
GUncertain significance
GBA1, LOC106627981
(D426N +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GBA1, LOC106627981
(K425* +2 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC106627981, GBA1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(splice acceptor variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC106627981, GBA1
Indel
(intron variant)
Gaucher disease perinatal lethal
+7 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC106627981, GBA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice donor variant)
Gaucher disease
GLikely pathogenic
GBA1, LOC106627981
(R502H +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R502C +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+9 more
GPathogenic
GBA1, LOC106627981
(N414K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
GBA1, LOC106627981
(V499M +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
GBA1, LOC106627981
(V499L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
GBA1, LOC106627981
(V497M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GBA1, LOC106627981
(V410L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(A495P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(D405V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(D405N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GUncertain significance
GBA1, LOC106627981
(D405H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GLikely benign
GBA1, LOC106627981
(L401P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC106627981, GBA1
(A487T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Gaucher disease type II
+1 more
GUncertain significance
LOC106627981, GBA1
(A398G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(A485P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(L483R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L483P +5 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease, late-onset
+1 more
GPathogenic
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
GBA1-related disorder
+15 more
GPathogenic; risk factor
LOC106627981, GBA1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
GBA1, LOC106627981
(K393fs +2 more)
Deletion
(frameshift variant)
Gaucher disease
GPathogenic
GBA1, LOC106627981
(D395N +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+8 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(K393del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GBA1, LOC106627981
(K480N +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
LOC106627981, GBA1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GBA1, LOC106627981
(V386L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(E381A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(I466S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GBA1, LOC106627981
Deletion
(intron variant)
Gaucher disease perinatal lethal
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(splice donor variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
GBA1, LOC106627981
(S376T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GUncertain significance
GBA1, LOC106627981
(P367L +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
GPathogenic
GBA1, LOC106627981
(P454R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
GPathogenic
GBA1, LOC106627981
(Q453* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease
GPathogenic
GBA1, LOC106627981
(K365R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC106627981, GBA1
(F450I +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC106627981, GBA1
(T362M +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+7 more
GUncertain significance
GBA1, LOC106627981
(D448V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(D448H +5 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
+1 more
GPathogenic
GBA1, LOC106627981
(D448H +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GPathogenic
GBA1, LOC106627981
(P440L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(S352N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+4 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
(D351Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GBA1, LOC106627981
(D351H +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GLikely pathogenic
GBA1, LOC106627981
(D438N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
(V350L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(V437F +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1, LOC106627981
(F436S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
(R347C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
GLikely pathogenic
GBA1, LOC106627981
(V433L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(W432* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(W432R +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
(P430L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
(E427* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease
GLikely pathogenic
GBA1, LOC106627981
(E427K +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GBA1, LOC106627981
(P426L +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
GUncertain significance
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