C4014419[trait identifier] AND "Laboratory of Human Genetics, Universi - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584775	NM_001371928.1(AHDC1):c.3543dup (p.Phe1182fs)	AHDC1 (F1182fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2626754	NM_001371928.1(AHDC1):c.3376C>T (p.Gln1126Ter)	AHDC1 (Q1126*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2584546	NM_001371928.1(AHDC1):c.3060_3073del (p.Ala1021fs)	AHDC1 (A1021fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2626757	NM_001371928.1(AHDC1):c.2651del (p.Gly884fs)	AHDC1 (G884fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2583159	NM_001371928.1(AHDC1):c.1653del (p.Lys552fs)	AHDC1 (K552fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
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 2626758	NM_001371928.1(AHDC1):c.1125del (p.Pro376fs)	AHDC1 (P376fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 800800	NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter)	AHDC1 (Q332*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2626756	NM_001371928.1(AHDC1):c.809del (p.Glu270fs)	AHDC1 (E270fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic