"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADNP"[gen - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434090	NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related disorder +4 more	GBenign/Likely benign
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 2071834	NM_001282531.3(ADNP):c.3166C>T (p.Arg1056Cys)	ADNP (R1056C)	Single nucleotide variant (missense variant)	ADNP-related disorder +1 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 disorder +3 more	GBenign/Likely benign
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 712654	NM_001282531.3(ADNP):c.2943G>T (p.Val981=)	ADNP	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 +3 more	GBenign/Likely benign
Select item 1797728	NM_001282531.3(ADNP):c.2922T>A (p.Ser974Arg)	ADNP (S974R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3031589	NM_001282531.3(ADNP):c.2872G>C (p.Asp958His)	ADNP (D958H)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 434093	NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp)	ADNP (E924D)	Single nucleotide variant (missense variant)	ADNP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 252698	NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile)	ADNP (V915I)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +4 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 +1 more	GBenign/Likely benign
Select item 588325	NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr)	ADNP (S889T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 3029166	NM_001282531.3(ADNP):c.2576G>A (p.Ser859Asn)	ADNP (S859N)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 587880	NM_001282531.3(ADNP):c.2475G>T (p.Gly825=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2636336	NM_001282531.3(ADNP):c.2350A>G (p.Arg784Gly)	ADNP (R784G)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 3033209	NM_001282531.3(ADNP):c.2189del (p.Arg730fs)	ADNP (R730fs)	Deletion (frameshift variant)	ADNP-related disorder	GPathogenic
Select item 1300622	NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln)	ADNP (R730Q)	Single nucleotide variant (missense variant)	ADNP-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1786690	NM_001282531.3(ADNP):c.2149C>T (p.Arg717Cys)	ADNP (R717C)	Single nucleotide variant (missense variant)	ADNP-related disorder +2 more	GBenign/Likely benign
Select item 2635135	NM_001282531.3(ADNP):c.2041A>T (p.Thr681Ser)	ADNP (T681S)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 2868645	NM_001282531.3(ADNP):c.1956G>A (p.Thr652=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 588836	NM_001282531.3(ADNP):c.1752A>G (p.Gln584=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 729217	NM_001282531.3(ADNP):c.1428A>G (p.Ala476=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related disorder +1 more	GLikely benign
Select item 3038967	NM_001282531.3(ADNP):c.1395C>T (p.Phe465=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related disorder	GLikely benign
Select item 973124	NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs)	ADNP (Q414fs)	Microsatellite (frameshift variant)	ADNP-related disorder	GPathogenic
Select item 2869379	NM_001282531.3(ADNP):c.1212G>A (p.Ser404=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1245671	NM_001282531.3(ADNP):c.1163C>T (p.Ala388Val)	ADNP (A388V)	Single nucleotide variant (missense variant)	ADNP-related disorder +2 more	GBenign/Likely benign
Select item 499359	NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)	ADNP (A355T)	Single nucleotide variant (missense variant)	ADNP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2637232	NM_001282531.3(ADNP):c.1028T>C (p.Val343Ala)	ADNP (V343A)	Single nucleotide variant (missense variant)	ADNP-related disorder +1 more	GUncertain significance
Select item 1298870	NM_001282531.3(ADNP):c.921C>G (p.Leu307=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1265979	NM_001282531.3(ADNP):c.909G>A (p.Met303Ile)	ADNP (M303I)	Single nucleotide variant (missense variant)	ADNP-related disorder +2 more	GBenign/Likely benign
Select item 2869515	NM_001282531.3(ADNP):c.861C>T (p.Ile287=)	ADNP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 589741	NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del)	ADNP (K279del)	Microsatellite (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 2635534	NM_001282531.3(ADNP):c.788C>A (p.Pro263His)	ADNP (P263H)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 2635353	NM_001282531.3(ADNP):c.484C>G (p.Gln162Glu)	ADNP (Q162E)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 434092	NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)	ADNP	Duplication (inframe_insertion)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2631307	NM_001282531.3(ADNP):c.328C>T (p.Pro110Ser)	ADNP (P110S)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 2628381	NM_001282531.3(ADNP):c.202-5_202-1del	ADNP	Deletion (splice acceptor variant)	ADNP-related disorder	GLikely pathogenic
Select item 1194988	NM_001282531.3(ADNP):c.191C>T (p.Thr64Met)	ADNP (T64M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 40