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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHH
(P424A)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
Deletion
(inframe_deletion +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(A383T)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
SHH
Deletion
(inframe_deletion +1 more)
Holoprosencephaly 3
GPathogenic
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
GBenign
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
+1 more
GLikely benign
SHH
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
SHH
(G290D)
Single nucleotide variant
(missense variant +1 more)
SHH-related condition
+6 more
GBenign/Likely benign
SHH
(E284*)
Single nucleotide variant
(nonsense +1 more)
Holoprosencephaly 3
GPathogenic
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
GBenign
SHH
Deletion
(inframe_deletion +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(E256*)
Single nucleotide variant
(intron variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(S236R)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(A226T)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
+2 more
GConflicting classifications of pathogenicity
SHH
(V224E)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(D222N)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
SHH
(Q209*)
Single nucleotide variant
(nonsense +1 more)
Holoprosencephaly 3
GPathogenic
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
GBenign
SHH
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
SHH
(E188Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(Y158* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(W117R +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(W117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(N115K +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(K105* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(Q100H)
Single nucleotide variant
(missense variant)
Holoprosencephaly 3
GPathogenic
SHH
(Q100*)
Single nucleotide variant
(nonsense)
Holoprosencephaly 3
GPathogenic
SHH
(D88V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 3
GPathogenic
SHH
(G31R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 3
GPathogenic
SHH
(V13fs)
Deletion
(frameshift variant)
Holoprosencephaly 3
GPathogenic
SHH
(L4fs)
Duplication
(frameshift variant)
Holoprosencephaly 3
GPathogenic
Single nucleotide variant
Holoprosencephaly 3
GPathogenic
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