ClinVar for MedGen (Select 862975) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376454	NM_001282531.3(ADNP):c.791G>A (p.Arg264Gln)	ADNP (R264Q)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3254632	NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr)	ADNP (C109Y)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 3254626	NM_001282531.3(ADNP):c.2153C>T (p.Thr718Ile)	ADNP (T718I)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3238820	NM_001282531.3(ADNP):c.2450dup (p.Tyr818fs)	ADNP (Y818fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 3235197	NM_001282531.3(ADNP):c.2301del (p.Ser769fs)	ADNP (S769fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 3234880	NM_001282531.3(ADNP):c.1351A>G (p.Ile451Val)	ADNP (I451V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3233323	NM_001282531.3(ADNP):c.1230_1232del (p.Ser411del)	ADNP (S411del)	Deletion (inframe_deletion)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3067993	NM_001282531.3(ADNP):c.1555T>A (p.Ser519Thr)	ADNP (S519T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3067113	NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)	ADNP (L823W)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 3033209	NM_001282531.3(ADNP):c.2189del (p.Arg730fs)	ADNP (R730fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 2898379	NM_001282531.3(ADNP):c.246C>T (p.Ser82=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2694130	NM_001282531.3(ADNP):c.3017C>A (p.Ala1006Glu)	ADNP (A1006E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2664894	NM_001282531.3(ADNP):c.514T>C (p.Tyr172His)	ADNP (Y172H)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2662644	NM_001282531.3(ADNP):c.2919G>T (p.Glu973Asp)	ADNP (E973D)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2573044	NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)	ADNP (P739fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 2501307	NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)	ADNP (A1017fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2499522	NM_001282531.3(ADNP):c.819_820insT (p.Lys274Ter)	ADNP (K274*)	Insertion (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Gnot provided
Select item 2442385	NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)	ADNP (N398*)	Duplication (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 2438890	NM_001282531.3(ADNP):c.3205A>G (p.Ile1069Val)	ADNP (I1069V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2438889	NM_001282531.3(ADNP):c.3206T>C (p.Ile1069Thr)	ADNP (I1069T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GUncertain significance
Select item 2438888	NM_001282531.3(ADNP):c.790del (p.Arg264fs)	ADNP (R264fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2438887	NM_001282531.3(ADNP):c.2138C>T (p.Ala713Val)	ADNP (A713V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GUncertain significance
Select item 2438886	NM_001282531.3(ADNP):c.2968_2969inv (p.Glu990Ser)	ADNP (E990S)	Inversion (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2438885	NM_001282531.3(ADNP):c.2773G>A (p.Glu925Lys)	ADNP (E925K)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2438884	NM_001282531.3(ADNP):c.2197GAT[2] (p.Asp735del)	ADNP (D735del)	Microsatellite (inframe_deletion)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GUncertain significance
Select item 2438882	NM_001282531.3(ADNP):c.3266A>G (p.His1089Arg)	ADNP (H1089R)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2438881	NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)	ADNP (L205V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GUncertain significance
Select item 2431381	NM_001282531.3(ADNP):c.833dup (p.Lys279fs)	ADNP (K279fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 2431379	NM_001282531.3(ADNP):c.185C>T (p.Ser62Leu)	ADNP (S62L)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 2429003	NM_001282531.3(ADNP):c.907A>G (p.Met303Val)	ADNP (M303V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GUncertain significance
Select item 2134636	NM_001282531.3(ADNP):c.976C>G (p.His326Asp)	ADNP (H326D)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2062781	NM_001282531.3(ADNP):c.103A>G (p.Ile35Val)	ADNP (I35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2043207	NM_001282531.3(ADNP):c.1137G>A (p.Gly379=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 1805995	NM_001282531.3(ADNP):c.2077A>G (p.Thr693Ala)	ADNP (T693A)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1805952	NM_001282531.3(ADNP):c.3110A>C (p.Glu1037Ala)	ADNP (E1037A)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1805403	NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)	ADNP (C667F)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1805170	NM_001282531.3(ADNP):c.2483dup (p.Met828fs)	ADNP (M828fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1804918	NM_001282531.3(ADNP):c.2212dup (p.Ser738fs)	ADNP (S738fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1794254	NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)	ADNP (L370V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1723481	NM_001282531.3(ADNP):c.2815A>T (p.Ile939Phe)	ADNP (I939F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709759	NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)	ADNP (K777fs)	Microsatellite (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1709398	NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)	ADNP (Y764*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1708235	NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)	ADNP (L732fs)	Indel (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1705565	NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)	ADNP (K148fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1701424	NM_001282531.3(ADNP):c.2220CTT[1] (p.Phe742del)	ADNP (F742del)	Microsatellite (inframe_deletion)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GConflicting classifications of pathogenicity
Select item 1698970	NM_001282531.3(ADNP):c.1009G>A (p.Val337Ile)	ADNP (V337I)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1698716	NM_001282531.3(ADNP):c.2155del (p.Tyr719fs)	ADNP (Y719fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1696760	NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del)	ADNP (K1016del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691844	NM_001282531.3(ADNP):c.2089dup (p.Gln697fs)	ADNP (Q697fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1687440	NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)	ADNP (E760*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1685506	NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs)	ADNP (K809fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1684264	NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs)	ADNP (K32fs)	Insertion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1679675	NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)	ADNP (I221S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1679632	NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs)	ADNP (M722fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1527885	NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs)	ADNP (N832fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GPathogenic
Select item 1527880	NM_001282531.3(ADNP):c.2167del (p.Glu723fs)	ADNP (E723fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1338860	NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter)	ADNP (W796*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1334645	NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter)	ADNP (Y818*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1333276	NM_001282531.3(ADNP):c.321del (p.Asn108fs)	ADNP (N108fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1319913	NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)	ADNP (C514G)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GConflicting classifications of pathogenicity
Select item 1301725	NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala)	ADNP (P917A)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1300622	NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln)	ADNP (R730Q)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GConflicting classifications of pathogenicity
Select item 1299548	NM_001282531.3(ADNP):c.655_656del (p.Glu218_Ser219insTer)	ADNP	Microsatellite (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GPathogenic
Select item 1297054	NM_001282531.3(ADNP):c.1310dup (p.Gly438fs)	ADNP (G438fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1287084	NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys)	ADNP (S1032C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1278536	NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu)	ADNP (Q1020E)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign/Likely benign
Select item 1251938	NM_001282531.3(ADNP):c.736C>T (p.Arg246Cys)	ADNP (R246C)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1200985	NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)	ADNP (S854F)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GConflicting classifications of pathogenicity
Select item 1189012	NM_001282531.3(ADNP):c.*50A>C	ADNP	Single nucleotide variant (3 prime UTR variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GBenign
Select item 1174075	NM_001282531.3(ADNP):c.898dup (p.Ser300fs)	ADNP (S300fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 1031904	NM_001282531.3(ADNP):c.872C>G (p.Ala291Gly)	ADNP (A291G)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1030496	NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val)	ADNP (L394V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1027973	NM_001282531.3(ADNP):c.638C>T (p.Ser213Leu)	ADNP (S213L)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GUncertain significance
Select item 1027972	NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys)	ADNP (E161K)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 1027971	NM_001282531.3(ADNP):c.3056T>C (p.Met1019Thr)	ADNP (M1019T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 984844	NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs)	ADNP (S955fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GPathogenic/Likely pathogenic
Select item 984843	NM_001282531.3(ADNP):c.2129dup (p.Ser711fs)	ADNP (S711fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 984842	NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)	ADNP (Q162*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984841	NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter)	ADNP (Q345*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 984840	NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs)	ADNP (L349fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 984839	NM_001282531.3(ADNP):c.940_941del (p.Leu314fs)	ADNP (L314fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 984838	NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)	ADNP (S738*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 982697	NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)	ADNP (Q980*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 981627	NM_001282531.3(ADNP):c.642_651del (p.Asn214fs)	ADNP (N214fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 976124	NM_001282531.3(ADNP):c.709del (p.Val237fs)	ADNP (V237fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 976094	NM_001282531.3(ADNP):c.2572G>A (p.Ala858Thr)	ADNP (A858T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 975321	NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys)	ADNP (R94C)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 973033	NM_001282531.3(ADNP):c.82_85del (p.Leu28fs)	ADNP (L28fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Gnot provided
Select item 958481	NM_001282531.3(ADNP):c.2150G>A (p.Arg717His)	ADNP (R717H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931701	NM_001282531.3(ADNP):c.3304G>A (p.Ala1102Thr)	ADNP (A1102T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 931423	NM_001282531.3(ADNP):c.64dup (p.Ile22fs)	ADNP (I22fs)	Duplication (frameshift variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 931183	NM_001282531.3(ADNP):c.2573C>G (p.Ala858Gly)	ADNP (A858G)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely benign
Select item 828170	NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)	ADNP (Q423fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 816876	NM_001282531.3(ADNP):c.108+6T>C	ADNP	Single nucleotide variant (intron variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 803615	NM_001282531.3(ADNP):c.-5-1G>C	ADNP	Single nucleotide variant (splice acceptor variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 803614	NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer)	ADNP	Deletion (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 800950	NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)	ADNP	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 777582	NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu)	ADNP (K773E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 747523	NM_001282531.3(ADNP):c.2310T>C (p.Phe770=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign/Likely benign
Select item 723547	NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser)	ADNP (P917S)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign/Likely benign

<< First< Prev

Page of 2