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Links from MedGen

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
(S149fs +1 more)
Deletion
(frameshift variant +1 more)
Gaucher disease type I
GLikely pathogenic
LOC106627981, GBA1
(L216I +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GUncertain significance
GBA1, LOC106627981
(R87Q)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type I
+1 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease type II
+6 more
GLikely benign
GBA1, LOC106627981
(M113V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+2 more
GConflicting classifications of pathogenicity
LOC106627981, GBA1
(S115R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+2 more
GLikely pathogenic
GBA1
(S4P)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type II
+7 more
GUncertain significance
GBA1, LOC106627981
(A261G +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
GBA1, LOC106627981
(W330G +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(D405N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GUncertain significance
GBA1, LOC106627981
(A213T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GUncertain significance
GBA1, LOC106627981
(M313I +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
+7 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Gaucher disease type II
+1 more
GUncertain significance
LOC106627981, GBA1
(T362M +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+7 more
GUncertain significance
GBA1, LOC106627981
(D332N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(P218L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(T69fs)
Duplication
(frameshift variant +1 more)
not specified
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L48fs +1 more)
Deletion
(frameshift variant +1 more)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(S405T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(H326P +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(P134T +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(P218fs +2 more)
Deletion
(frameshift variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(S308F +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+3 more
GPathogenic
GBA1, LOC106627981
(S297F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC106627981, GBA1
(W446* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Gaucher disease type I
GUncertain significance
GBA1, LOC106627981
(F186fs +2 more)
Deletion
(frameshift variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(R83H +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+4 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(P256A +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(S223N +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R229C +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+6 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R275C +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R305W +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+3 more
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice donor variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R83C)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GUncertain significance
GBA1, LOC106627981
(V499M +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
GBA1, LOC106627981
(S376T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GUncertain significance
GBA1, LOC106627981
(S352N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+4 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(T75del)
Deletion
(inframe_deletion +1 more)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
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
(splice acceptor variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L150fs +2 more)
Deletion
(frameshift variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+9 more
GPathogenic
GBA1, LOC106627981
(W218* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease type I
+2 more
GPathogenic
GBA1, LOC106627981
(L424P +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(S310G +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+7 more
GPathogenic/Likely pathogenic
LOC106627981, GBA1
Indel
(intron variant)
Gaucher disease perinatal lethal
+7 more
GUncertain significance
GBA1
(S35L)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
+8 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(W351S +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+7 more
GLikely pathogenic
MSH6
(C973fs +2 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
GBA1, LOC106627981
(D176N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
Gaucher disease type I
GLikely pathogenic
Gaucher disease type I
GLikely pathogenic
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(R368C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+7 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(L213F +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
Gaucher disease type I
+2 more
GBenign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
GBA1, LOC106627981
(H294Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity; other
GBA1, LOC106627981
(R535C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+2 more
GPathogenic
GBA1, LOC106627981
(G289A +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(I466S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
LOC106627981, GBA1
(A487T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(L393V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(A139P +1 more)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(I299T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GLikely pathogenic
LOC106627981, GBA1
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
GBA1, LOC106627981
(S146L +1 more)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
+3 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GPathogenic
GBA1, LOC106627981
(G241R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N227K +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(W223R +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R209C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R170C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic
GBA1, LOC106627981
(L483R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(V414L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+2 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(V391L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic/Likely pathogenic
GBA1
Single nucleotide variant
(intron variant +1 more)
Gaucher disease type I
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(S235P +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R502H +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(D395N +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+8 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(D448H +5 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
+1 more
GPathogenic
GBA1, LOC106627981
(L410V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(K118N +1 more)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
+1 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R296Q +2 more)
Single nucleotide variant
(missense variant)
GBA1-related disorder
+9 more
GPathogenic
GBA1, LOC106627981
(G416S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R398* +2 more)
Single nucleotide variant
(nonsense)
Lewy body dementia
+8 more
GPathogenic
GBA1, LOC106627981
(P440L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(P178fs +2 more)
Deletion
(frameshift variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(R87W)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease perinatal lethal
+9 more
GPathogenic
GBA1, LOC106627981
(S403T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GBA1, LOC106627981
(G364R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+8 more
GLikely pathogenic
GBA1, LOC106627981
(W351C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(A348V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(F255V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(N227S +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(V54L)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type I
GPathogenic
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