23394[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 2652398	NM_001282531.3(ADNP):c.*1576G>A	ADNP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3234565	NM_001282531.3(ADNP):c.*1471C>T	ADNP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 545057	NM_001282531.3(ADNP):c.3307dup (p.Ter1103LeuextTer?)	ADNP	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
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 1312755	NM_001282531.3(ADNP):c.3302A>G (p.Gln1101Arg)	ADNP (Q1101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993454	NM_001282531.3(ADNP):c.3300A>G (p.Gln1100=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446926	NM_001282531.3(ADNP):c.3293G>A (p.Ser1098Asn)	ADNP (S1098N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692581	NM_001282531.3(ADNP):c.3292A>G (p.Ser1098Gly)	ADNP (S1098G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1729749	NM_001282531.3(ADNP):c.3281G>T (p.Gly1094Val)	ADNP (G1094V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2581349	NM_001282531.3(ADNP):c.3280G>A (p.Gly1094Arg)	ADNP (G1094R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 225224	NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs)	ADNP (G1094fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Gnot provided
Select item 434090	NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
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 2829629	NM_001282531.3(ADNP):c.3262A>G (p.Met1088Val)	ADNP (M1088V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1729487	NM_001282531.3(ADNP):c.3258G>T (p.Glu1086Asp)	ADNP (E1086D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 546371	NM_001282531.3(ADNP):c.3248dup (p.Val1084fs)	ADNP (V1084fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2784727	NM_001282531.3(ADNP):c.3245_3247dup (p.Asp1082_Gly1083insAsp)	ADNP	Duplication (inframe_insertion)	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 2776494	NM_001282531.3(ADNP):c.3238A>G (p.Met1080Val)	ADNP (M1080V)	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 2014672	NM_001282531.3(ADNP):c.3223G>A (p.Glu1075Lys)	ADNP (E1075K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2859769	NM_001282531.3(ADNP):c.3222G>A (p.Gly1074=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 694537	NM_001282531.3(ADNP):c.3213_3216del (p.Ser1071fs)	ADNP (S1071fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2652399	NM_001282531.3(ADNP):c.3207T>A (p.Ile1069=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 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 3033020	NM_001282531.3(ADNP):c.3192G>T (p.Trp1064Cys)	ADNP (W1064C)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
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 2620044	NM_001282531.3(ADNP):c.3178C>G (p.Pro1060Ala)	ADNP (P1060A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311644	NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro)	ADNP (S1058P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2197969	NM_001282531.3(ADNP):c.3167G>A (p.Arg1056His)	ADNP (R1056H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071834	NM_001282531.3(ADNP):c.3166C>T (p.Arg1056Cys)	ADNP (R1056C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2111508	NM_001282531.3(ADNP):c.3156G>A (p.Glu1052=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 749518	NM_001282531.3(ADNP):c.3147T>C (p.Asn1049=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2086122	NM_001282531.3(ADNP):c.3144G>T (p.Lys1048Asn)	ADNP (K1048N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123955	NM_001282531.3(ADNP):c.3137A>G (p.Gln1046Arg)	ADNP (Q1046R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784996	NM_001282531.3(ADNP):c.3122C>T (p.Ser1041Phe)	ADNP (S1041F)	Single nucleotide variant (missense variant)	not provided	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 3026609	NM_001282531.3(ADNP):c.3104A>G (p.Lys1035Arg)	ADNP (K1035R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2138354	NM_001282531.3(ADNP):c.3100G>A (p.Gly1034Arg)	ADNP (G1034R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2190027	NM_001282531.3(ADNP):c.3097T>A (p.Tyr1033Asn)	ADNP (Y1033N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1336949	NM_001282531.3(ADNP):c.3092G>A (p.Ser1031Asn)	ADNP (S1031N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1727333	NM_001282531.3(ADNP):c.3079A>G (p.Lys1027Glu)	ADNP (K1027E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2823585	NM_001282531.3(ADNP):c.3078G>T (p.Leu1026Phe)	ADNP (L1026F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791053	NM_001282531.3(ADNP):c.3076T>C (p.Leu1026=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1912858	NM_001282531.3(ADNP):c.3071A>T (p.Glu1024Val)	ADNP (E1024V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089663	NM_001282531.3(ADNP):c.3070G>C (p.Glu1024Gln)	ADNP (E1024Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1799445	NM_001282531.3(ADNP):c.3068G>A (p.Arg1023Lys)	ADNP (R1023K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2864065	NM_001282531.3(ADNP):c.3066C>T (p.Asp1022=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2834302	NM_001282531.3(ADNP):c.3057G>T (p.Met1019Ile)	ADNP (M1019I)	Single nucleotide variant (missense variant)	not provided	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 3026979	NM_001282531.3(ADNP):c.3052A>G (p.Thr1018Ala)	ADNP (T1018A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977567	NM_001282531.3(ADNP):c.3050C>G (p.Ala1017Gly)	ADNP (A1017G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 1334498	NM_001282531.3(ADNP):c.3040A>C (p.Lys1014Gln)	ADNP (K1014Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815228	NM_001282531.3(ADNP):c.3031C>T (p.Pro1011Ser)	ADNP (P1011S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634022	NM_001282531.3(ADNP):c.3020G>A (p.Arg1007Lys)	ADNP (R1007K)	Single nucleotide variant (missense variant)	ADNP-related disorder +1 more	GUncertain significance
Select item 1399552	NM_001282531.3(ADNP):c.3019A>G (p.Arg1007Gly)	ADNP (R1007G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757801	NM_001282531.3(ADNP):c.3017C>G (p.Ala1006Gly)	ADNP (A1006G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1982422	NM_001282531.3(ADNP):c.3010G>C (p.Glu1004Gln)	ADNP (E1004Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1798771	NM_001282531.3(ADNP):c.3009C>T (p.Ser1003=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2786936	NM_001282531.3(ADNP):c.2995G>A (p.Glu999Lys)	ADNP (E999K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1976189	NM_001282531.3(ADNP):c.2985C>T (p.Thr995=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 966928	NM_001282531.3(ADNP):c.2971_2979del (p.Met991_Pro993del)	ADNP	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1686431	NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg)	ADNP (P993R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 588466	NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)	ADNP (M991V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +3 more	GBenign/Likely benign
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 1690769	NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)	ADNP (E990K)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 2783340	NM_001282531.3(ADNP):c.2963C>T (p.Thr988Ile)	ADNP (T988I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075479	NM_001282531.3(ADNP):c.2960A>G (p.Asn987Ser)	ADNP (N987S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987062	NM_001282531.3(ADNP):c.2946dup (p.Asp983fs)	ADNP (D983fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 1972673	NM_001282531.3(ADNP):c.2942T>C (p.Val981Ala)	ADNP (V981A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008852	NM_001282531.3(ADNP):c.2941G>C (p.Val981Leu)	ADNP (V981L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2915523	NM_001282531.3(ADNP):c.2933C>T (p.Ser978Phe)	ADNP (S978F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +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 1352571	NM_001282531.3(ADNP):c.2923G>T (p.Gly975Trp)	ADNP (G975W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1797728	NM_001282531.3(ADNP):c.2922T>A (p.Ser974Arg)	ADNP (S974R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2017010	NM_001282531.3(ADNP):c.2916T>C (p.Ser972=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign

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