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Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
VANGL1
Microsatellite
(5 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(5 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
VANGL1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
VANGL1
Single nucleotide variant
(5 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(5 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1, LOC121725046
Duplication
(intron variant)
not specified
GBenign
LOC121725046, VANGL1
Single nucleotide variant
(5 prime UTR variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(5 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(E4K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
(S14L)
Single nucleotide variant
(missense variant)
Keratoconus
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(Q23P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
(E25K)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
(S33L)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(R35W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(synonymous variant)
VANGL1-related disorder
GLikely benign
VANGL1
(T52fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
VANGL1
(E66K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
(W72C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+2 more
GConflicting classifications of pathogenicity
VANGL1
(S83L +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GBenign
VANGL1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
VANGL1
(H83R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
(I92V +1 more)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+2 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VANGL1
(V101M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
(D106N +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(K108R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
VANGL1
(R107H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
(A116T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+3 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(G164E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VANGL1
(R171C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
(R173H +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GBenign
VANGL1
(R175W +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+18 more
GConflicting classifications of pathogenicity
VANGL1
(R181Q +1 more)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
(V191A +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GConflicting classifications of pathogenicity
VANGL1
(L192P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
VANGL1
(S197F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(R205C +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(R210Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VANGL1
(R212W +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
VANGL1
(V227L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(D226N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VANGL1
(V239I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VANGL1
(Q251H +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VANGL1
(R261C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
(R261H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(intron variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
Sacral defect with anterior meningocele
+1 more
GBenign
VANGL1
(R274Q +1 more)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
+1 more
GUncertain significance; risk factor
VANGL1
Deletion
(nonsense)
Sacral defect with anterior meningocele
GPathogenic
VANGL1
(N280D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
(Y288H +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(Y288C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
(H305L +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VANGL1
(N311S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
(R326Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
(M328T +1 more)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
Grisk factor
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(E347A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
VANGL1
(E349K +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
(H348R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(R351Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
Single nucleotide variant
(intron variant)
not provided
GBenign
VANGL1
(V360fs +1 more)
Deletion
(frameshift variant)
Neural tube defect
GUncertain significance
VANGL1
(Q376R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
VANGL1
(R391M +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GConflicting classifications of pathogenicity
VANGL1
(M399L +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GUncertain significance
VANGL1
(A402S +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
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