ClinVar for Gene (Select 23394) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365822	NM_001282531.3(ADNP):c.527T>C (p.Leu176Pro)	ADNP (L176P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364906	NM_001282531.3(ADNP):c.3181_3182delinsAG (p.Gln1061Arg)	ADNP (Q1061R)	Indel (missense variant)	not provided	GUncertain significance
Select item 3364024	NM_001282531.3(ADNP):c.2507A>G (p.His836Arg)	ADNP (H836R)	Single nucleotide variant (missense variant)	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 3363302	NM_001282531.3(ADNP):c.14C>T (p.Pro5Leu)	ADNP (P5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359386	NM_001282531.3(ADNP):c.740T>C (p.Ile247Thr)	ADNP (I247T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355959	NM_001282531.3(ADNP):c.1162G>C (p.Ala388Pro)	ADNP (A388P)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
Select item 3343247	NM_001282531.3(ADNP):c.2585C>G (p.Ala862Gly)	ADNP (A862G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340676	NM_001282531.3(ADNP):c.1327A>G (p.Thr443Ala)	ADNP (T443A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340634	NM_001282531.3(ADNP):c.2T>C (p.Met1Thr)	ADNP (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3340566	NM_001282531.3(ADNP):c.1134T>G (p.Tyr378Ter)	ADNP (Y378*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340383	NM_001282531.3(ADNP):c.1035_1038del (p.Gln345_Ser346insTer)	ADNP	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3339169	NM_001282531.3(ADNP):c.424A>G (p.Thr142Ala)	ADNP (T142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338846	NM_001282531.3(ADNP):c.1930C>T (p.Arg644Ter)	ADNP (R644*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3336997	NM_001282531.3(ADNP):c.92G>A (p.Cys31Tyr)	ADNP (C31Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336996	NM_001282531.3(ADNP):c.518G>A (p.Arg173Gln)	ADNP (R173Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336995	NM_001282531.3(ADNP):c.1363C>T (p.Leu455Phe)	ADNP (L455F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336430	NM_001282531.3(ADNP):c.981G>A (p.Leu327=)	ADNP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3273310	NM_001282531.3(ADNP):c.995A>T (p.Tyr332Phe)	ADNP (Y332F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3254632	NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr)	ADNP (C109Y)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 3254626	NM_001282531.3(ADNP):c.2153C>T (p.Thr718Ile)	ADNP (T718I)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3252623	NM_001282531.3(ADNP):c.2353G>A (p.Glu785Lys)	ADNP (E785K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251425	NM_001282531.3(ADNP):c.1768C>T (p.Pro590Ser)	ADNP (P590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248272	NC_000020.10:g.(?_49520406)_(49571842_?)del	ADNP, DPM1	Deletion	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 3239387	NM_001282531.3(ADNP):c.955G>A (p.Val319Ile)	ADNP (V319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238820	NM_001282531.3(ADNP):c.2450dup (p.Tyr818fs)	ADNP (Y818fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
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 3235197	NM_001282531.3(ADNP):c.2301del (p.Ser769fs)	ADNP (S769fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GPathogenic
Select item 3234880	NM_001282531.3(ADNP):c.1351A>G (p.Ile451Val)	ADNP (I451V)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3234565	NM_001282531.3(ADNP):c.*1471C>T	ADNP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3233323	NM_001282531.3(ADNP):c.1230_1232del (p.Ser411del)	ADNP (S411del)	Deletion (inframe_deletion)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3089711	NM_001282531.3(ADNP):c.98A>G (p.Glu33Gly)	ADNP (E33G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3089650	NM_001282531.3(ADNP):c.2819A>C (p.His940Pro)	ADNP (H940P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089616	NM_001282531.3(ADNP):c.2056C>T (p.His686Tyr)	ADNP (H686Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089604	NM_001282531.3(ADNP):c.1388T>C (p.Val463Ala)	ADNP (V463A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3089599	NM_001282531.3(ADNP):c.1177T>C (p.Ser393Pro)	ADNP (S393P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069101	NM_001282531.3(ADNP):c.2239G>A (p.Glu747Lys)	ADNP (E747K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067993	NM_001282531.3(ADNP):c.1555T>A (p.Ser519Thr)	ADNP (S519T)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GUncertain significance
Select item 3067113	NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)	ADNP (L823W)	Single nucleotide variant (missense variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
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 3033209	NM_001282531.3(ADNP):c.2189del (p.Arg730fs)	ADNP (R730fs)	Deletion (frameshift variant)	ADNP-related disorder	GPathogenic
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 3031589	NM_001282531.3(ADNP):c.2872G>C (p.Asp958His)	ADNP (D958H)	Single nucleotide variant (missense variant)	ADNP-related disorder	GUncertain significance
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 3026979	NM_001282531.3(ADNP):c.3052A>G (p.Thr1018Ala)	ADNP (T1018A)	Single nucleotide variant (missense variant)	not provided	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 3016116	NM_001282531.3(ADNP):c.2295A>G (p.Glu765=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3015888	NM_001282531.3(ADNP):c.2358T>G (p.Ile786Met)	ADNP (I786M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2994527	NM_001282531.3(ADNP):c.1607T>C (p.Ile536Thr)	ADNP (I536T)	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 2982359	NM_001282531.3(ADNP):c.291T>C (p.His97=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2979602	NM_001282531.3(ADNP):c.2906C>G (p.Ala969Gly)	ADNP (A969G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968768	NM_001282531.3(ADNP):c.2902G>A (p.Gly968Ser)	ADNP (G968S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958769	NM_001282531.3(ADNP):c.2206A>G (p.Ser736Gly)	ADNP (S736G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920691	NM_001282531.3(ADNP):c.2182A>C (p.Lys728Gln)	ADNP (K728Q)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2915526	NM_001282531.3(ADNP):c.647G>A (p.Arg216Gln)	ADNP (R216Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915525	NM_001282531.3(ADNP):c.659G>A (p.Ser220Asn)	ADNP (S220N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915524	NM_001282531.3(ADNP):c.1585G>A (p.Ala529Thr)	ADNP (A529T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2914447	NM_001282531.3(ADNP):c.2885T>A (p.Val962Asp)	ADNP (V962D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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
Select item 2896398	NM_001282531.3(ADNP):c.2547TGA[1] (p.Asp850del)	ADNP (D850del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2892303	NM_001282531.3(ADNP):c.2126C>T (p.Ser709Phe)	ADNP (S709F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889304	NM_001282531.3(ADNP):c.2628A>G (p.Ser876=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2886067	NM_001282531.3(ADNP):c.104T>C (p.Ile35Thr)	ADNP (I35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881308	NM_001282531.3(ADNP):c.2821T>G (p.Leu941Val)	ADNP (L941V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881247	NM_001282531.3(ADNP):c.1229C>T (p.Pro410Leu)	ADNP (P410L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881235	NM_001282531.3(ADNP):c.2723C>T (p.Pro908Leu)	ADNP (P908L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877564	NM_001282531.3(ADNP):c.172C>T (p.Leu58=)	ADNP	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2876340	NM_001282531.3(ADNP):c.2373C>T (p.Ala791=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2876060	NM_001282531.3(ADNP):c.2810A>T (p.Glu937Val)	ADNP (E937V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875950	NM_001282531.3(ADNP):c.1080T>A (p.Pro360=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874988	NM_001282531.3(ADNP):c.401G>A (p.Ser134Asn)	ADNP (S134N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874314	NM_001282531.3(ADNP):c.202-13G>A	ADNP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871987	NM_001282531.3(ADNP):c.2174C>T (p.Pro725Leu)	ADNP (P725L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871776	NM_001282531.3(ADNP):c.1200T>C (p.Ser400=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871719	NM_001282531.3(ADNP):c.1134T>C (p.Tyr378=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2871598	NM_001282531.3(ADNP):c.1926C>T (p.His642=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2869952	NM_001282531.3(ADNP):c.474C>T (p.Asp158=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2869591	NM_001282531.3(ADNP):c.2742G>C (p.Lys914Asn)	ADNP (K914N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869515	NM_001282531.3(ADNP):c.861C>T (p.Ile287=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2869379	NM_001282531.3(ADNP):c.1212G>A (p.Ser404=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868645	NM_001282531.3(ADNP):c.1956G>A (p.Thr652=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868244	NM_001282531.3(ADNP):c.1737T>C (p.Val579=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2868187	NM_001282531.3(ADNP):c.1135G>A (p.Gly379Arg)	ADNP (G379R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867983	NM_001282531.3(ADNP):c.1362G>A (p.Glu454=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2866806	NM_001282531.3(ADNP):c.2087G>A (p.Gly696Asp)	ADNP (G696D)	Single nucleotide variant (missense variant)	not provided	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 2861478	NM_001282531.3(ADNP):c.1834G>T (p.Ala612Ser)	ADNP (A612S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859769	NM_001282531.3(ADNP):c.3222G>A (p.Gly1074=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2858759	NM_001282531.3(ADNP):c.1591A>C (p.Met531Leu)	ADNP (M531L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858581	NM_001282531.3(ADNP):c.201+16G>A	ADNP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2854025	NM_001282531.3(ADNP):c.1146A>G (p.Ser382=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849810	NM_001282531.3(ADNP):c.1306C>A (p.Pro436Thr)	ADNP (P436T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847161	NM_001282531.3(ADNP):c.154A>G (p.Thr52Ala)	ADNP (T52A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838997	NM_001282531.3(ADNP):c.1323C>A (p.Ser441=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2838249	NM_001282531.3(ADNP):c.1758TCC[1] (p.Pro588del)	ADNP (P588del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2837950	NM_001282531.3(ADNP):c.7C>T (p.Gln3Ter)	ADNP (Q3*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2834568	NM_001282531.3(ADNP):c.1677C>T (p.His559=)	ADNP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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