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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H1-4
(A123fs)
Duplication
(frameshift variant)
Rahman syndrome
+1 more
GPathogenic
H1-4
(K137fs)
Duplication
(frameshift variant)
Rahman syndrome
Gnot provided
H1-4
(K136fs)
Insertion
(frameshift variant)
Rahman syndrome
Gnot provided
H1-4
(K137fs)
Duplication
(frameshift variant)
Rahman syndrome
+1 more
GPathogenic/Likely pathogenic
H1-4
(K139fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
H1-4
(K140fs)
Duplication
(frameshift variant)
Rahman syndrome
Gnot provided
H1-4
(T142fs)
Indel
(frameshift variant)
Rahman syndrome
GPathogenic
H1-4
(T142fs)
Indel
(frameshift variant)
Rahman syndrome
GPathogenic
H1-4
(A144fs)
Duplication
(frameshift variant)
Rahman syndrome
+2 more
GPathogenic/Likely pathogenic
H1-4
(A145fs)
Duplication
(frameshift variant)
not provided
GPathogenic
H1-4
(A145fs)
Duplication
(frameshift variant)
Rahman syndrome
+1 more
GPathogenic
H1-4
(T146fs)
Duplication
(frameshift variant)
not provided
GPathogenic
H1-4
(T146fs)
Deletion
(frameshift variant)
not provided
GPathogenic
H1-4
(P147fs)
Deletion
(frameshift variant)
Rahman syndrome
Gnot provided
H1-4
(S150fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
H1-4
(K152fs)
Insertion
(frameshift variant)
not provided
GPathogenic
H1-4
(K157fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
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