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Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
(D876N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COPB2
(I868L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(E859A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(E879K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
Single nucleotide variant
(intron variant)
Microcephaly 19, primary, autosomal recessive
+1 more
GBenign
COPB2
(S847fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
COPB2
(N842K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(A841T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
(I835T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
COPB2
Duplication
(intron variant)
not provided
GBenign
COPB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COPB2
(T848I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
COPB2
(T828M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(K822R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(D788H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(H815Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(A755T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(V770M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(R759Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(R750W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(M701K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(M730V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(A690V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(E675T +1 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(S666L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(I627T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(L649F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COPB2
(R615C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(T610I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COPB2
(T607R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(T636fs)
Duplication
(frameshift variant +1 more)
COPB2-related disorder
GUncertain significance
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
(P568S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COPB2
(M561I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(I523T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COPB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COPB2
(A513G)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COPB2
(T477S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
(H467R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(E427G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(D424N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(G417D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(G436S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
Deletion
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
not provided
GBenign
COPB2
(F399I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(S423fs)
Duplication
(frameshift variant +1 more)
Osteoporosis, childhood- or juvenile-onset, with developmental delay
GLikely pathogenic
COPB2
(K413fs)
Deletion
(frameshift variant +1 more)
COPB2-related disorder
GUncertain significance
COPB2
(V383I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
Single nucleotide variant
(splice acceptor variant)
Osteoporosis, childhood- or juvenile-onset, with developmental delay
GPathogenic
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
Microcephaly 19, primary, autosomal recessive
+1 more
GBenign
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
(Q327* +1 more)
Single nucleotide variant
(nonsense +1 more)
COPB2-related disorder
GUncertain significance
COPB2
(S350R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
(M330L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(A310T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(Y290S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(N256S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COPB2
(T231A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COPB2
(R254C)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 19, primary, autosomal recessive
GPathogenic
COPB2
Single nucleotide variant
(intron variant)
Osteoporosis, childhood- or juvenile-onset, with developmental delay
GUncertain significance
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
(S166G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
(Y165C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
COPB2-related disorder
GLikely benign
COPB2
(S174C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
COPB2
(V78I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COPB2
(N56D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COPB2
(V83fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
COPB2
(V83M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COPB2
Deletion
(intron variant)
COPB2-related disorder
GLikely benign
COPB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
COPB2
Single nucleotide variant
(intron variant)
Microcephaly 19, primary, autosomal recessive
+1 more
GBenign
COPB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COPB2
Single nucleotide variant
(5 prime UTR variant +2 more)
COPB2-related disorder
GLikely benign
COPB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
COPB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
COPB2
(S229L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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