"GeneDx"[submitter] AND "ADNP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1312755	NM_001282531.3(ADNP):c.3302A>G (p.Gln1101Arg)	ADNP (Q1101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434090	NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 546371	NM_001282531.3(ADNP):c.3248dup (p.Val1084fs)	ADNP (V1084fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3371960	NM_001282531.3(ADNP):c.3247G>C (p.Gly1083Arg)	ADNP (G1083R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363755	NM_001282531.3(ADNP):c.3239T>C (p.Met1080Thr)	ADNP (M1080T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237918	NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser)	ADNP (N1079S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713739	NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr)	ADNP (I1062T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3364906	NM_001282531.3(ADNP):c.3181_3182delinsAG (p.Gln1061Arg)	ADNP (Q1061R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2004826	NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1306158	NM_001282531.3(ADNP):c.3097T>C (p.Tyr1033His)	ADNP (Y1033H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 988372	NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs)	ADNP (R1023fs)	Microsatellite (frameshift variant)	not provided +1 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 2501307	NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)	ADNP (A1017fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1188179	NM_001282531.3(ADNP):c.2994C>T (p.Asp998=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 712654	NM_001282531.3(ADNP):c.2943G>T (p.Val981=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 546231	NM_001282531.3(ADNP):c.2918_2932del (p.Glu973_Ser978delinsAla)	ADNP	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 589201	NM_001282531.3(ADNP):c.2931A>G (p.Gly977=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3370003	NM_001282531.3(ADNP):c.2930G>C (p.Gly977Ala)	ADNP (G977A)	Single nucleotide variant (missense variant)	not provided	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 2160210	NM_001282531.3(ADNP):c.2885TTG[1] (p.Val963del)	ADNP (V963del)	Microsatellite (inframe_deletion)	not provided	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 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 722218	NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu)	ADNP (I939L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 589370	NM_001282531.3(ADNP):c.2782G>C (p.Asp928His)	ADNP (D928H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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
Select item 252698	NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile)	ADNP (V915I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1193365	NM_001282531.3(ADNP):c.2725G>A (p.Glu909Lys)	ADNP (E909K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1306884	NM_001282531.3(ADNP):c.2716_2718del (p.Asp906del)	ADNP (D906del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1304829	NM_001282531.3(ADNP):c.2669G>A (p.Gly890Asp)	ADNP (G890D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588325	NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr)	ADNP (S889T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign
Select item 1697028	NM_001282531.3(ADNP):c.2646G>T (p.Leu882Phe)	ADNP (L882F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693315	NM_001282531.3(ADNP):c.2630_2633del (p.Asp877fs)	ADNP (D877fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2430652	NM_001282531.3(ADNP):c.2617G>A (p.Asp873Asn)	ADNP (D873N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434095	NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)	ADNP (D873Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3376066	NM_001282531.3(ADNP):c.2591A>G (p.Lys864Arg)	ADNP (K864R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343247	NM_001282531.3(ADNP):c.2585C>G (p.Ala862Gly)	ADNP (A862G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210870	NM_001282531.3(ADNP):c.2570A>G (p.Asn857Ser)	ADNP (N857S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 587839	NM_001282531.3(ADNP):c.2568C>T (p.Val856=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign
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 3373751	NM_001282531.3(ADNP):c.2522A>G (p.Asp841Gly)	ADNP (D841G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364024	NM_001282531.3(ADNP):c.2507A>G (p.His836Arg)	ADNP (H836R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 139632	NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)	ADNP (N832fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 139631	NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)	ADNP (L831fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 587880	NM_001282531.3(ADNP):c.2475G>T (p.Gly825=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 589626	NM_001282531.3(ADNP):c.2463C>T (p.Gly821=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2662007	NM_001282531.3(ADNP):c.2438G>A (p.Arg813His)	ADNP (R813H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573705	NM_001282531.3(ADNP):c.2398A>T (p.Ile800Phe)	ADNP (I800F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707009	NM_001282531.3(ADNP):c.2386T>C (p.Trp796Arg)	ADNP (W796R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280874	NM_001282531.3(ADNP):c.2378T>G (p.Leu793Ter)	ADNP (L793*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3252623	NM_001282531.3(ADNP):c.2353G>A (p.Glu785Lys)	ADNP (E785K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 280907	NM_001282531.3(ADNP):c.2268dup (p.Lys757fs)	ADNP (K757fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2579429	NM_001282531.3(ADNP):c.2255T>C (p.Leu752Ser)	ADNP (L752S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489048	NM_001282531.3(ADNP):c.2239G>T (p.Glu747Ter)	ADNP (E747*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 489245	NM_001282531.3(ADNP):c.2230G>T (p.Glu744Ter)	ADNP (E744*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984838	NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)	ADNP (S738*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 391218	NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)	ADNP (S738*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 452597	NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs)	ADNP (L732fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 430071	NM_001282531.3(ADNP):c.2195del (p.Lys731_Leu732insTer)	ADNP	Deletion (nonsense)	not provided	GPathogenic
Select item 1309778	NM_001282531.3(ADNP):c.2189G>C (p.Arg730Pro)	ADNP (R730P)	Single nucleotide variant (missense variant)	not provided	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 504292	NM_001282531.3(ADNP):c.2187dup (p.Arg730fs)	ADNP (R730fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 432980	NM_001282531.3(ADNP):c.2175del (p.Leu726fs)	ADNP (L726fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 426751	NM_001282531.3(ADNP):c.2165T>C (p.Met722Thr)	ADNP (M722T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800950	NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)	ADNP	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 280623	NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)	ADNP (Y719*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 190278	NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	ADNP (Y719*)	Duplication (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 139635	NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)	ADNP (Y719*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1707860	NM_001282531.3(ADNP):c.2132G>T (p.Ser711Ile)	ADNP (S711I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499960	NM_001282531.3(ADNP):c.2113C>T (p.Arg705Trp)	ADNP (R705W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574281	NM_001282531.3(ADNP):c.2093A>G (p.Asp698Gly)	ADNP (D698G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580701	NM_001282531.3(ADNP):c.2086G>A (p.Gly696Ser)	ADNP (G696S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304872	NM_001282531.3(ADNP):c.2083A>G (p.Asn695Asp)	ADNP (N695D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587838	NM_001282531.3(ADNP):c.2076G>A (p.Lys692=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 587808	NM_001282531.3(ADNP):c.2067C>T (p.Gly689=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1712040	NM_001282531.3(ADNP):c.2056C>A (p.His686Asn)	ADNP (H686N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303971	NM_001282531.3(ADNP):c.2056C>G (p.His686Asp)	ADNP (H686D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310944	NM_001282531.3(ADNP):c.2012A>G (p.Tyr671Cys)	ADNP (Y671C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444771	NM_001282531.3(ADNP):c.2002C>T (p.Leu668Phe)	ADNP (L668F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338846	NM_001282531.3(ADNP):c.1930C>T (p.Arg644Ter)	ADNP (R644*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 503886	NM_001282531.3(ADNP):c.1876_1892del (p.Leu626fs)	ADNP (L626fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 386594	NM_001282531.3(ADNP):c.1855G>T (p.Val619Phe)	ADNP (V619F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342109	NM_001282531.3(ADNP):c.1847A>G (p.Lys616Arg)	ADNP (K616R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1878936	NM_001282531.3(ADNP):c.1837G>A (p.Val613Met)	ADNP (V613M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371388	NM_001282531.3(ADNP):c.1786A>C (p.Lys596Gln)	ADNP (K596Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706276	NM_001282531.3(ADNP):c.1768C>G (p.Pro590Ala)	ADNP (P590A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421870	NM_001282531.3(ADNP):c.1754dup (p.Asn585fs)	ADNP (N585fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 589686	NM_001282531.3(ADNP):c.1754A>G (p.Asn585Ser)	ADNP (N585S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588836	NM_001282531.3(ADNP):c.1752A>G (p.Gln584=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1195748	NM_001282531.3(ADNP):c.1747G>T (p.Ala583Ser)	ADNP (A583S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1327804	NM_001282531.3(ADNP):c.1704A>G (p.Thr568=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 387173	NM_001282531.3(ADNP):c.1677C>A (p.His559Gln)	ADNP (H559Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136269	NM_001282531.3(ADNP):c.1661T>C (p.Leu554Ser)	ADNP (L554S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678777	NM_001282531.3(ADNP):c.1595G>A (p.Arg532Gln)	ADNP (R532Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1723532	NM_001282531.3(ADNP):c.1588C>A (p.His530Asn)	ADNP (H530N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504474	NM_001282531.3(ADNP):c.1505C>T (p.Thr502Ile)	ADNP (T502I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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