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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOHH
(V75G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
GUncertain significance
DOHH
(P149R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
GUncertain significance
DOHH
(P223L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
GUncertain significance
DOHH
(N184K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
+1 more
GPathogenic
DOHH
(P152L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
GLikely pathogenic
DOHH
(I249T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
+1 more
GPathogenic
DOHH
(E219fs)
Insertion
(frameshift variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
GPathogenic/Likely pathogenic
DOHH
(Y280*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
+1 more
GPathogenic
DOHH
(E102fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
+1 more
GPathogenic
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