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Items: 1 to 100 of 319

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
FBXO5, FNDC1
+865 more
Copy number gain
See cases
GPathogenic
ADGB, ADGB-DT
+227 more
Copy number loss
See cases
GPathogenic
LOC132089373, LOC132090771
+172 more
Copy number loss
See cases
GPathogenic
GINM1, KATNA1
+107 more
Copy number gain
See cases
GUncertain significance
GINM1, IYD
+131 more
Copy number loss
See cases
GPathogenic
GINM1, KATNA1
+69 more
Copy number loss
See cases
GPathogenic
LOC123881328, LOC126859826
+26 more
Copy number loss
See cases
GUncertain significance
LOC126859827, LOC129997426
+9 more
Copy number gain
See cases
GUncertain significance
TAB2
Deletion
(intron variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(intron variant)
not provided
GBenign
TAB2
Single nucleotide variant
(intron variant)
not provided
GBenign
TAB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TAB2
Microsatellite
(intron variant)
not provided
GBenign
TAB2
(G4R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAB2
(H6R)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 2
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAB2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 2
+1 more
GBenign/Likely benign
TAB2
(I8V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TAB2
(D9N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAB2
(R17Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAB2
(V27fs)
Indel
(frameshift variant +1 more)
TAB2-related disorder
GLikely pathogenic
TAB2
(V28I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAB2
(R30K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAB2
Deletion
(intron variant)
not provided
GLikely benign
TAB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TAB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TAB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TAB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TAB2
Deletion
(intron variant)
not provided
GBenign
TAB2
Single nucleotide variant
(intron variant)
not provided
GBenign
TAB2
Single nucleotide variant
(intron variant)
not provided
GBenign
TAB2
Deletion
(intron variant)
not provided
GBenign
TAB2
Single nucleotide variant
(intron variant)
not provided
GBenign
TAB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TAB2
(N35D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(N35S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(D40V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(E17K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(G56S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(I36T +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
+1 more
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(R40C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAB2
(S52L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(Q53fs +1 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
GPathogenic
TAB2
(S84* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TAB2
(Q53H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(I87L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(E61K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TAB2
(R64K +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
+1 more
GUncertain significance
TAB2
(R64S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TAB2
(T104fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
TAB2
(T104M +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(Q79R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(Q79H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(G115V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(N118Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TAB2
(S119C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(S119G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TAB2
(P130A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(V101I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAB2
(P102L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(Q135* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TAB2
(S144T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(A116fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GUncertain significance
TAB2
(S149* +1 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(H122Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(H126fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(H126Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TAB2
(H126R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(L135H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAB2
(Q138K +1 more)
Single nucleotide variant
(missense variant)
TAB2-related disorder
GUncertain significance
TAB2
(Q170R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(R141K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(P151L +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
GLikely pathogenic
TAB2
(N152D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TAB2
(R189C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(R157H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TAB2
(T161A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TAB2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TAB2
(V172fs +1 more)
Insertion
(frameshift variant)
not provided
GPathogenic
TAB2
(N174S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TAB2
(P176fs +1 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(P208S +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 2
GPathogenic
TAB2
(Q177K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TAB2
(G178E +1 more)
Single nucleotide variant
(missense variant)
TAB2-related disorder
GUncertain significance
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