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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHSG
Single nucleotide variant
(synonymous variant)
Alopecia-intellectual disability syndrome 1
GBenign
AHSG
(V314M +3 more)
Single nucleotide variant
(missense variant)
Alopecia-intellectual disability syndrome 1
GUncertain significance
AHSG
(K2*)
Single nucleotide variant
(nonsense)
Alopecia-intellectual disability syndrome 1
GPathogenic
AHSG
(R317H +3 more)
Single nucleotide variant
(missense variant)
Alopecia-intellectual disability syndrome 1
GPathogenic
AHSG
(S256T +3 more)
Single nucleotide variant
(missense variant)
Alopecia-intellectual disability syndrome 1
GBenign
AHSG
(M248T +2 more)
Single nucleotide variant
(missense variant +1 more)
Alopecia-intellectual disability syndrome 1
GBenign
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