"3billion"[submitter] AND "AHDC1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526217	NM_001371928.1(AHDC1):c.3898C>T (p.Gln1300Ter)	AHDC1 (Q1300*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 1320090	NM_001371928.1(AHDC1):c.1757_1758del (p.Lys586fs)	AHDC1 (K586fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 1320043	NM_001371928.1(AHDC1):c.1481_1482del (p.Lys494fs)	AHDC1 (K494fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2572453	NM_001371928.1(AHDC1):c.1140del (p.Lys381fs)	AHDC1 (K381fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 2444077	NM_001371928.1(AHDC1):c.1080_1111del (p.Glu361fs)	AHDC1 (E361fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic

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