"3billion"[submitter] AND "ADNP"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 139632	NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)	ADNP (N832fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
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 280623	NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)	ADNP (Y719*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 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 589090	NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys)	ADNP (E242K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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