ClinVar for Gene (Select 27245) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3360702	NM_001371928.1(AHDC1):c.4328A>G (p.His1443Arg)	AHDC1 (H1443R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360625	NM_001371928.1(AHDC1):c.4144C>T (p.Pro1382Ser)	AHDC1 (P1382S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360320	NM_001371928.1(AHDC1):c.2821G>T (p.Ala941Ser)	AHDC1 (A941S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359600	NM_001371928.1(AHDC1):c.3554C>T (p.Ala1185Val)	AHDC1 (A1185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359046	NM_001371928.1(AHDC1):c.898dup (p.Leu300fs)	AHDC1 (L300fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 3355789	NM_001371928.1(AHDC1):c.3019A>G (p.Ser1007Gly)	AHDC1 (S1007G)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GUncertain significance
Select item 3354412	NM_001371928.1(AHDC1):c.2943C>G (p.Phe981Leu)	AHDC1 (F981L)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GUncertain significance
Select item 3350011	NM_001371928.1(AHDC1):c.4378A>C (p.Ser1460Arg)	AHDC1 (S1460R)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GUncertain significance
Select item 3349705	NM_001371928.1(AHDC1):c.2119_2143del (p.Val707fs)	AHDC1 (V707fs)	Deletion (frameshift variant)	AHDC1-related disorder	GLikely pathogenic
Select item 3342531	NM_001371928.1(AHDC1):c.1289dup (p.Pro431fs)	AHDC1 (P431fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3338653	NM_001371928.1(AHDC1):c.2024_2025del (p.Phe675fs)	AHDC1 (F675fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 3338652	NM_001371928.1(AHDC1):c.3451C>T (p.Gln1151Ter)	AHDC1 (Q1151*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 3336999	NM_001371928.1(AHDC1):c.1957del (p.Gln653fs)	AHDC1 (Q653fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3336863	NM_001371928.1(AHDC1):c.4454_4455del (p.Thr1485fs)	AHDC1 (T1485fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3336364	NM_001371928.1(AHDC1):c.1003G>C (p.Asp335His)	AHDC1 (D335H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336165	NM_001371928.1(AHDC1):c.4673C>T (p.Pro1558Leu)	AHDC1 (P1558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277138	NM_001371928.1(AHDC1):c.2558T>C (p.Leu853Ser)	AHDC1 (L853S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277128	NM_001371928.1(AHDC1):c.4226A>C (p.Lys1409Thr)	AHDC1 (K1409T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277117	NM_001371928.1(AHDC1):c.2562C>G (p.Asp854Glu)	AHDC1 (D854E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277097	NM_001371928.1(AHDC1):c.320C>T (p.Ser107Phe)	AHDC1 (S107F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277087	NM_001371928.1(AHDC1):c.2323G>T (p.Gly775Cys)	AHDC1 (G775C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277068	NM_001371928.1(AHDC1):c.142C>T (p.Pro48Ser)	AHDC1 (P48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277058	NM_001371928.1(AHDC1):c.4789A>G (p.Thr1597Ala)	AHDC1 (T1597A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257463	NM_001371928.1(AHDC1):c.473C>T (p.Pro158Leu)	AHDC1 (P158L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257134	NM_001371928.1(AHDC1):c.249G>T (p.Pro83=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254701	NM_001371928.1(AHDC1):c.4369G>T (p.Asp1457Tyr)	AHDC1 (D1457Y)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3252742	NM_001371928.1(AHDC1):c.3239C>T (p.Ser1080Phe)	AHDC1 (S1080F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250657	NM_001371928.1(AHDC1):c.3772T>C (p.Ser1258Pro)	AHDC1 (S1258P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3239386	NM_001371928.1(AHDC1):c.2031C>T (p.Gly677=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3238628	NM_001371928.1(AHDC1):c.4318G>A (p.Ala1440Thr)	AHDC1 (A1440T +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3237162	NM_001371928.1(AHDC1):c.4540del (p.Ala1514fs)	AHDC1 (A1514fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
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 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 3098355	NM_001371928.1(AHDC1):c.4567C>T (p.Arg1523Trp)	AHDC1 (R1523W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098343	NM_001371928.1(AHDC1):c.4502G>T (p.Ser1501Ile)	AHDC1 (S153I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098307	NM_001371928.1(AHDC1):c.397C>T (p.Arg133Cys)	AHDC1 (R133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098301	NM_001371928.1(AHDC1):c.3889C>T (p.Pro1297Ser)	AHDC1 (P1297S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3098282	NM_001371928.1(AHDC1):c.3474dup (p.Val1159fs)	AHDC1 (V1159fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3098265	NM_001371928.1(AHDC1):c.2947C>G (p.Pro983Ala)	AHDC1 (P983A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098230	NM_001371928.1(AHDC1):c.2363G>T (p.Gly788Val)	AHDC1 (G788V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098228	NM_001371928.1(AHDC1):c.2363G>A (p.Gly788Asp)	AHDC1 (G788D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098139	NM_001371928.1(AHDC1):c.1252A>G (p.Met418Val)	AHDC1 (M418V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098102	NM_001371928.1(AHDC1):c.1089G>T (p.Leu363Phe)	AHDC1 (L363F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068359	NM_001371928.1(AHDC1):c.1633del (p.Arg545fs)	AHDC1 (R545fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 3068006	NM_001371928.1(AHDC1):c.631G>A (p.Gly211Ser)	AHDC1 (G211S)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3067115	NM_001371928.1(AHDC1):c.4404C>A (p.Tyr1468Ter)	AHDC1 (Y120* +1 more)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 3065987	NM_001371928.1(AHDC1):c.1642G>A (p.Gly548Ser)	AHDC1 (G548S)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 3065838	NM_001371928.1(AHDC1):c.2092A>G (p.Ile698Val)	AHDC1 (I698V)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 3061209	NM_001371928.1(AHDC1):c.2354G>T (p.Gly785Val)	AHDC1 (G785V)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GUncertain significance
Select item 3061142	NM_001371928.1(AHDC1):c.658G>A (p.Ala220Thr)	AHDC1 (A220T)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GUncertain significance
Select item 3058933	NM_001371928.1(AHDC1):c.729C>T (p.Asp243=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3057544	NM_001371928.1(AHDC1):c.2849C>T (p.Pro950Leu)	AHDC1 (P950L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3047257	NM_001371928.1(AHDC1):c.492G>A (p.Gln164=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3040388	NM_001371928.1(AHDC1):c.3528G>A (p.Pro1176=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3036887	NM_001371928.1(AHDC1):c.1773G>A (p.Lys591=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3031658	NM_001371928.1(AHDC1):c.1929G>A (p.Pro643=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3030649	NM_001371928.1(AHDC1):c.1091G>A (p.Arg364His)	AHDC1 (R364H)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GLikely benign
Select item 3029069	NM_001371928.1(AHDC1):c.3703C>A (p.Arg1235=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3028976	NM_001371928.1(AHDC1):c.1095G>A (p.Leu365=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related disorder	GLikely benign
Select item 3027365	NM_001371928.1(AHDC1):c.851A>G (p.Asp284Gly)	AHDC1 (D284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026639	NM_001371928.1(AHDC1):c.498C>G (p.Ser166Arg)	AHDC1 (S166R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024280	NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter)	AHDC1 (Q990*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 3024258	NM_001371928.1(AHDC1):c.2268del (p.Ser757fs)	AHDC1 (S757fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 3021259	NM_001371928.1(AHDC1):c.166G>A (p.Ala56Thr)	AHDC1 (A56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021157	NM_001371928.1(AHDC1):c.1704G>A (p.Ala568=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021143	NM_001371928.1(AHDC1):c.2828C>T (p.Thr943Ile)	AHDC1 (T943I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3020835	NM_001371928.1(AHDC1):c.1741A>G (p.Met581Val)	AHDC1 (M581V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019612	NM_001371928.1(AHDC1):c.4177G>A (p.Gly1393Ser)	AHDC1 (G1393S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018456	NM_001371928.1(AHDC1):c.1566G>A (p.Lys522=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015753	NM_001371928.1(AHDC1):c.3042C>T (p.Ser1014=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013841	NM_001371928.1(AHDC1):c.300G>A (p.Pro100=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012815	NM_001371928.1(AHDC1):c.1672C>T (p.Pro558Ser)	AHDC1 (P558S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012562	NM_001371928.1(AHDC1):c.2475G>A (p.Gln825=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011937	NM_001371928.1(AHDC1):c.1183C>T (p.Arg395Cys)	AHDC1 (R395C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3011652	NM_001371928.1(AHDC1):c.4769C>T (p.Ala1590Val)	AHDC1 (A242V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011378	NM_001371928.1(AHDC1):c.4356C>T (p.Gly1452=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009595	NM_001371928.1(AHDC1):c.2238G>A (p.Lys746=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009291	NM_001371928.1(AHDC1):c.1762C>T (p.Arg588Trp)	AHDC1 (R588W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008969	NM_001371928.1(AHDC1):c.209G>C (p.Ser70Thr)	AHDC1 (S70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007824	NM_001371928.1(AHDC1):c.2582G>A (p.Arg861His)	AHDC1 (R861H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006976	NM_001371928.1(AHDC1):c.4424G>A (p.Arg1475His)	AHDC1 (R1475H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3006047	NM_001371928.1(AHDC1):c.1982G>A (p.Arg661His)	AHDC1 (R661H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005187	NM_001371928.1(AHDC1):c.261G>C (p.Arg87=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003868	NM_001371928.1(AHDC1):c.2387C>T (p.Thr796Ile)	AHDC1 (T796I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002962	NM_001371928.1(AHDC1):c.1208G>A (p.Arg403His)	AHDC1 (R403H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002168	NM_001371928.1(AHDC1):c.2991C>G (p.Asp997Glu)	AHDC1 (D997E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001745	NM_001371928.1(AHDC1):c.3529G>C (p.Val1177Leu)	AHDC1 (V1177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001251	NM_001371928.1(AHDC1):c.1621A>G (p.Ile541Val)	AHDC1 (I541V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001240	NM_001371928.1(AHDC1):c.2454C>T (p.Ser818=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997659	NM_001371928.1(AHDC1):c.4431G>T (p.Pro1477=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997569	NM_001371928.1(AHDC1):c.2721G>A (p.Ala907=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997403	NM_001371928.1(AHDC1):c.2463A>G (p.Ala821=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997062	NM_001371928.1(AHDC1):c.993C>T (p.Pro331=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996604	NM_001371928.1(AHDC1):c.1036C>T (p.Arg346Cys)	AHDC1 (R346C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996598	NM_001371928.1(AHDC1):c.1147G>A (p.Ala383Thr)	AHDC1 (A383T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996351	NM_001371928.1(AHDC1):c.2185G>A (p.Gly729Arg)	AHDC1 (G729R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993932	NM_001371928.1(AHDC1):c.3285G>A (p.Ser1095=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993532	NM_001371928.1(AHDC1):c.2748C>T (p.Ser916=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992776	NM_001371928.1(AHDC1):c.464C>T (p.Pro155Leu)	AHDC1 (P155L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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