C4014419[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2173017	NM_001371928.1(AHDC1):c.4718C>T (p.Ala1573Val)	AHDC1 (A1573V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3234852	NM_001371928.1(AHDC1):c.4571C>A (p.Pro1524His)	AHDC1 (P1524H +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3367154	NM_001371928.1(AHDC1):c.2992T>A (p.Cys998Ser)	AHDC1 (C998S)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3235001	NM_001371928.1(AHDC1):c.2572_2573del (p.Ala859fs)	AHDC1 (A859fs)	Microsatellite (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 3377621	NM_001371928.1(AHDC1):c.1481A>G (p.Lys494Arg)	AHDC1 (K494R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2663966	NM_001371928.1(AHDC1):c.700A>G (p.Thr234Ala)	AHDC1 (T234A)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3362309	NM_001371928.1(AHDC1):c.1509C>A (p.Ser503Arg)	AHDC1 (S503R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic