"Genome-Nilou Lab"[submitter] AND "AHDC1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1232053	NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 783928	NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 1048836	NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr)	AHDC1 (A1535T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 760719	NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 737243	NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln)	AHDC1 (K1462Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1245507	NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln)	AHDC1 (H1443Q)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 1233119	NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 734106	NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 777902	NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp)	AHDC1 (G1393D)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 711822	NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly)	AHDC1 (C1341G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 599460	NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp)	AHDC1 (E1210D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 711051	NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn)	AHDC1 (S1191N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1300569	NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr)	AHDC1 (A1123T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 769506	NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 788759	NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)	AHDC1	Deletion (inframe_deletion)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 711272	NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1170506	NM_001371928.1(AHDC1):c.3104CCT[1] (p.Ser1036del)	AHDC1 (S1036del)	Microsatellite (inframe_deletion)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 728844	NM_001371928.1(AHDC1):c.3054C>T (p.Ala1018=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 790808	NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 710593	NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 715868	NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro)	AHDC1 (T943P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1167798	NM_001371928.1(AHDC1):c.2803G>A (p.Ala935Thr)	AHDC1 (A935T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 771111	NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 788285	NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg)	AHDC1 (P909R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 780225	NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 790333	NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1283452	NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 1167799	NM_001371928.1(AHDC1):c.2145G>T (p.Pro715=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 725515	NM_001371928.1(AHDC1):c.1608C>T (p.Pro536=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 741147	NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 377281	NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met)	AHDC1 (V504M)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1270985	NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile)	AHDC1 (V483I)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 376920	NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met)	AHDC1 (V471M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 775527	NM_001371928.1(AHDC1):c.1410C>T (p.Gly470=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1197781	NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 235372	NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His)	AHDC1 (R412H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1169789	NM_001371928.1(AHDC1):c.1209C>T (p.Arg403=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 786721	NM_001371928.1(AHDC1):c.1146C>T (p.Tyr382=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 716799	NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1275612	NM_001371928.1(AHDC1):c.984G>T (p.Leu328=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 739367	NM_001371928.1(AHDC1):c.870G>A (p.Pro290=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 780226	NM_001371928.1(AHDC1):c.832C>T (p.Pro278Ser)	AHDC1 (P278S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 445768	NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala)	AHDC1 (P271A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 784439	NM_001371928.1(AHDC1):c.782C>T (p.Ala261Val)	AHDC1 (A261V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 789919	NM_001371928.1(AHDC1):c.726C>T (p.Ala242=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1174341	NM_001371928.1(AHDC1):c.657G>A (p.Thr219=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 780765	NM_001371928.1(AHDC1):c.561C>T (p.His187=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 725516	NM_001371928.1(AHDC1):c.489A>G (p.Leu163=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1167406	NM_001371928.1(AHDC1):c.483C>T (p.Gly161=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 729625	NM_001371928.1(AHDC1):c.480C>T (p.Pro160=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 733872	NM_001371928.1(AHDC1):c.470C>T (p.Ala157Val)	AHDC1 (A157V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1169790	NM_001371928.1(AHDC1):c.465G>A (p.Pro155=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 377337	NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys)	AHDC1 (R96C)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 744145	NM_001371928.1(AHDC1):c.225A>G (p.Pro75=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 377378	NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile)	AHDC1 (T71I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1281447	NM_001371928.1(AHDC1):c.125G>A (p.Arg42Gln)	AHDC1 (R42Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 56