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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(R181Q +1 more)
Single nucleotide variant
(missense variant)
Neural tube defect
+1 more
GUncertain significance
CELSR1
(V1908fs)
Microsatellite
(frameshift variant)
Neural tube defects, susceptibility to
Grisk factor
CELSR1
(E1685fs)
Microsatellite
(frameshift variant)
Neural tube defects, susceptibility to
Grisk factor
FUZ
(R404Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Neural tube defects, susceptibility to
Grisk factor
FUZ
(D354Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Neural tube defects, susceptibility to
Grisk factor
FUZ
(P39S)
Single nucleotide variant
(missense variant +2 more)
Neural tube defects, susceptibility to
Grisk factor
VANGL2
(F437S)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
Grisk factor
VANGL2
(R353C)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
Grisk factor
TBXT
Single nucleotide variant
(intron variant)
Neural tube defects, susceptibility to
Grisk factor
VANGL1
(M328T +1 more)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
Grisk factor
VANGL1
(R274Q +1 more)
Single nucleotide variant
(missense variant)
Neural tube defects, susceptibility to
+1 more
GUncertain significance; risk factor
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