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Links from MedGen

Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(P51L)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(A91D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(T121S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(L347F +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(M1T)
Single nucleotide variant
(missense variant +2 more)
Heterotaxy, visceral, 5, autosomal
GConflicting classifications of pathogenicity
NODAL
(D135G +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant +1 more)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(E279K +1 more)
Single nucleotide variant
(missense variant)
NODAL-related disorder
+1 more
GConflicting classifications of pathogenicity
NODAL
(M44L)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(D205H +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(T23M)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
+1 more
GLikely benign
NODAL
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(P172L +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Indel
(inframe_indel)
NODAL-related disorder
+1 more
GUncertain significance
NODAL
(T140I +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(P320L +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
EIF4EBP2, NODAL
Deletion
Heterotaxy, visceral, 5, autosomal
GPathogenic
NODAL
(Q71K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(P157L +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(L196F +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GBenign
NODAL
(P182L +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(T186fs +1 more)
Deletion
(frameshift variant)
Heterotaxy, visceral, 5, autosomal
GPathogenic
NODAL
(P176L +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
EIF4EBP2, NODAL
+2 more
Duplication
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GUncertain significance
NODAL
(A140T +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(Q18R)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(Y197* +1 more)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 5, autosomal
GPathogenic
NODAL
(S36W)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
(T23I +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
(K171M +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
(E224K +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GConflicting classifications of pathogenicity
NODAL
(Q116L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(P119S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(R88W +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
(Q85R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(P25L +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+1 more
GConflicting classifications of pathogenicity
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(H306Y +1 more)
Single nucleotide variant
(missense variant)
NODAL-related disorder
+1 more
GLikely benign
NODAL
(G149fs +1 more)
Deletion
(frameshift variant)
Heterotaxy, visceral, 5, autosomal
GPathogenic
NODAL
(L94V +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
Single nucleotide variant
(splice donor variant)
Heterotaxy, visceral, 5, autosomal
GLikely pathogenic
NODAL
(G225R +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
GUncertain significance
NODAL
(Q133*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Heterotaxy, visceral, 5, autosomal
GPathogenic
NODAL
Single nucleotide variant
(splice acceptor variant)
Heterotaxy, visceral, 5, autosomal
GLikely pathogenic
NODAL
(R101fs +1 more)
Deletion
(frameshift variant)
Heterotaxy, visceral, 5, autosomal
GLikely pathogenic
NODAL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
GLikely benign
NODAL
(W220R +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
(A42V)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly sequence
+2 more
GUncertain significance
NODAL
(V68A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+2 more
GBenign
NODAL
(T74M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
(R94W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
(R94Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+2 more
GLikely benign
NODAL
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly sequence
+1 more
GBenign
NODAL
Single nucleotide variant
(5 prime UTR variant +1 more)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+1 more
GLikely benign
NODAL
(Q172E +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
(P184S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NODAL
(S198Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NODAL
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+2 more
GLikely benign
NODAL
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GBenign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GBenign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GBenign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GLikely benign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GBenign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GBenign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GBenign
NODAL
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
NODAL
(E203K +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+2 more
GBenign/Likely benign
NODAL
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 5, autosomal
+3 more
GBenign
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