"Genome-Nilou Lab"[submitter] AND "ADNP"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 588466	NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)	ADNP (M991V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 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 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 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 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 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 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 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 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 588523	NM_001282531.3(ADNP):c.1212G>C (p.Ser404=)	ADNP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 718326	NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val)	ADNP (I359V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign/Likely benign
Select item 589741	NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del)	ADNP (K279del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 434092	NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)	ADNP	Duplication (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 588351	NM_001282531.3(ADNP):c.393G>A (p.Pro131=)	ADNP	Single nucleotide variant (synonymous variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GBenign/Likely benign

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Items: 23