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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THOC6
(G46R +1 more)
Single nucleotide variant
(missense variant)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
GPathogenic
THOC6
(R87* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
THOC6
(W100R +5 more)
Single nucleotide variant
(missense variant +1 more)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
GPathogenic
THOC6
(G190E +1 more)
Single nucleotide variant
(missense variant)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
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