"Revvity Omics, Revvity"[submitter] AND "AHDC1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438942	NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)	AHDC1 (K1516E +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2316939	NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)	AHDC1 (P1450L +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2438940	NM_001371928.1(AHDC1):c.4134G>T (p.Lys1378Asn)	AHDC1 (K1378N +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438935	NM_001371928.1(AHDC1):c.3587C>T (p.Ser1196Leu)	AHDC1 (S1196L)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2181155	NM_001371928.1(AHDC1):c.3544T>G (p.Phe1182Val)	AHDC1 (F1182V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 1707094	NM_001371928.1(AHDC1):c.3505G>A (p.Asp1169Asn)	AHDC1 (D1169N)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 2154727	NM_001371928.1(AHDC1):c.3256T>G (p.Ser1086Ala)	AHDC1 (S1086A)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 2438941	NM_001371928.1(AHDC1):c.2951C>G (p.Thr984Ser)	AHDC1 (T984S)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 444163	NM_001371928.1(AHDC1):c.2750C>T (p.Ala917Val)	AHDC1 (A917V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2438938	NM_001371928.1(AHDC1):c.2672G>A (p.Arg891Gln)	AHDC1 (R891Q)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2160635	NM_001371928.1(AHDC1):c.2132G>A (p.Gly711Glu)	AHDC1 (G711E)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 1301553	NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp)	AHDC1 (E642D)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 1546783	NM_001371928.1(AHDC1):c.1537G>A (p.Val513Met)	AHDC1 (V513M)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2690472	NM_001371928.1(AHDC1):c.1172A>G (p.Lys391Arg)	AHDC1 (K391R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely benign
Select item 2438943	NM_001371928.1(AHDC1):c.1139C>T (p.Pro380Leu)	AHDC1 (P380L)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438934	NM_001371928.1(AHDC1):c.1034G>T (p.Gly345Val)	AHDC1 (G345V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2690473	NM_001371928.1(AHDC1):c.640C>T (p.His214Tyr)	AHDC1 (H214Y)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely benign
Select item 2438936	NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)	AHDC1 (R192W)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2438937	NM_001371928.1(AHDC1):c.461G>A (p.Arg154His)	AHDC1 (R154H)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2438933	NM_001371928.1(AHDC1):c.58G>A (p.Asp20Asn)	AHDC1 (D20N)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 20