"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ADNP"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 disorder +3 more	GBenign/Likely benign
Select item 434095	NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)	ADNP (D873Y)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GConflicting classifications of pathogenicity
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 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 521765	NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)	ADNP (W446*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +1 more	GPathogenic
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 588351	NM_001282531.3(ADNP):c.393G>A (p.Pro131=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign