ClinVar for MedGen (Select 349263) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188909	NM_001622.4(AHSG):c.810A>C (p.Thr270=)	AHSG	Single nucleotide variant (synonymous variant)	Alopecia-intellectual disability syndrome 1	GBenign
Select item 1032762	NM_001622.4(AHSG):c.1024G>A (p.Val342Met)	AHSG (V314M +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GUncertain significance
Select item 1029361	NM_001622.4(AHSG):c.4A>T (p.Lys2Ter)	AHSG (K2*)	Single nucleotide variant (nonsense)	Alopecia-intellectual disability syndrome 1	GPathogenic
Select item 488189	NM_001622.4(AHSG):c.950G>A (p.Arg317His)	AHSG (R317H +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GPathogenic
Select item 16044	NM_001622.4(AHSG):c.767G>C (p.Ser256Thr)	AHSG (S256T +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GBenign
Select item 16043	NM_001622.4(AHSG):c.743T>C (p.Met248Thr)	AHSG (M248T +2 more)	Single nucleotide variant (missense variant +1 more)	Alopecia-intellectual disability syndrome 1	GBenign

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