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Links from MedGen

Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VANGL1
Single nucleotide variant
(intron variant)
Sacral defect with anterior meningocele
+1 more
GBenign
VANGL1
Deletion
(nonsense)
Sacral defect with anterior meningocele
GPathogenic
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+2 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(K510R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VANGL1
(I495M +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GConflicting classifications of pathogenicity
VANGL1
(Q251H +1 more)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
(R205C +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
(A402S +1 more)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
(M399L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VANGL1
(S33L)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
(E25K)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(5 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
(Y288H +1 more)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
VANGL1
(Q376R +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
(K108R +1 more)
Single nucleotide variant
(missense variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
(I92V +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+3 more
GConflicting classifications of pathogenicity
VANGL1, CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GConflicting classifications of pathogenicity
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Neural tube defect
+1 more
GUncertain significance
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GConflicting classifications of pathogenicity
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+1 more
GUncertain significance
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