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Links from MedGen

Items: 1 to 100 of 239

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VANGL1
(V360fs +1 more)
Deletion
(frameshift variant)
Neural tube defect
GUncertain significance
VANGL2
(T78I)
Single nucleotide variant
(missense variant)
Neural tube defect
GUncertain significance
VANGL2
(R135W)
Single nucleotide variant
(missense variant)
Neural tube defect
GBenign
VANGL2
(A329V)
Single nucleotide variant
(missense variant)
Neural tube defect
GUncertain significance
VANGL2
Single nucleotide variant
(synonymous variant)
Neural tube defect
GBenign
FUZ
(T113I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance; association
TBXT
(H226Y)
Single nucleotide variant
(missense variant)
Neural tube defect
GUncertain significance
SCRIB
(Q393*)
Single nucleotide variant
(nonsense)
Neural tube defect
GLikely pathogenic
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)
Neural tube defect
+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)
Neural tube defect
+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
AMBRA1
(S1043F +6 more)
Single nucleotide variant
(missense variant +1 more)
Neural tube defect
GUncertain significance
AMBRA1
(M705V +6 more)
Single nucleotide variant
(missense variant +1 more)
Neural tube defect
GUncertain significance
AMBRA1
(S564F +6 more)
Single nucleotide variant
(missense variant +1 more)
Neural tube defect
GUncertain significance
AMBRA1
(L274F +2 more)
Single nucleotide variant
(missense variant +1 more)
Neural tube defect
GUncertain significance
AMBRA1
(T80M)
Single nucleotide variant
(missense variant +2 more)
Neural tube defect
GUncertain significance
VANGL1
(R173H +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GBenign
VANGL1
(S83L +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GBenign
FUZ
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
VANGL1
Single nucleotide variant
(synonymous variant)
Sacral defect with anterior meningocele
+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
RAD9B
(R204fs +3 more)
Duplication
(frameshift variant +1 more)
Neural tube defect
GPathogenic
RAD9B
(A124fs +4 more)
Deletion
(frameshift variant)
Neural tube defect
GPathogenic
RAD9B
(F143L +4 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GLikely pathogenic
RAD9B
(S10G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Neural tube defect
GLikely pathogenic
RAD9B
(S157G +4 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GLikely pathogenic
RAD9B
(I112M +1 more)
Single nucleotide variant
(missense variant +2 more)
Neural tube defect
GLikely pathogenic
RAD9B
Single nucleotide variant
Neural tube defect
GLikely pathogenic
RAD9B
(G149R +4 more)
Single nucleotide variant
(missense variant)
Neural tube defect
GLikely pathogenic
ARSG, PRKAR1A
+1 more
(R246Q +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
Neural tube defect
GAffects
KMT5B
(R187* +3 more)
Single nucleotide variant
(nonsense +2 more)
Neural tube defect
+1 more
GPathogenic/Likely pathogenic
APAF1
(L35fs)
Duplication
(frameshift variant)
Neural tube defect
GUncertain significance
ITGB1
(E769fs)
Duplication
(frameshift variant)
Neural tube defect
Grisk factor
DLC1
(Q356* +3 more)
Single nucleotide variant
(nonsense)
Neural tube defect
Grisk factor
DLC1
(P41S +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Neural tube defect
Grisk factor
VANGL1
(K108R +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+2 more
GBenign/Likely benign
VANGL1
(I92V +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+3 more
GConflicting classifications of pathogenicity
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