"Baylor Genetics"[submitter] AND "AHDC1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030033	NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr)	AHDC1 (M1521T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 1033214	NM_001371928.1(AHDC1):c.4479C>T (p.Gly1493=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 996932	NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter)	AHDC1 (S1330*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 1030032	NM_001371928.1(AHDC1):c.3539G>T (p.Gly1180Val)	AHDC1 (G1180V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 1030031	NM_001371928.1(AHDC1):c.3155C>T (p.Thr1052Met)	AHDC1 (T1052M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030030	NM_001371928.1(AHDC1):c.2966G>T (p.Gly989Val)	AHDC1 (G989V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 496678	NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)	AHDC1 (R925*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 133328	NM_001371928.1(AHDC1):c.2547del (p.Ser850fs)	AHDC1 (S850fs)	Deletion (frameshift variant)	Hypotonia +3 more	GPathogenic
Select item 1030029	NM_001371928.1(AHDC1):c.2419G>C (p.Glu807Gln)	AHDC1 (E807Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033216	NM_001371928.1(AHDC1):c.787G>A (p.Ala263Thr)	AHDC1 (A263T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1033215	NM_001371928.1(AHDC1):c.732C>G (p.Ile244Met)	AHDC1 (I244M)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 1030976	NM_001371928.1(AHDC1):c.724G>A (p.Ala242Thr)	AHDC1 (A242T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 1033213	NM_001371928.1(AHDC1):c.218G>A (p.Arg73His)	AHDC1 (R73H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030977	NM_001371928.1(AHDC1):c.85C>A (p.Pro29Thr)	AHDC1 (P29T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity