ATAD5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 155302	GRCh38/hg38 17q11.2(chr17:30599358-31009835)x1	ADAP2, ATAD5 +24 more	Copy number loss	See cases	GUncertain significance
Select item 155193	GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1	ADAP2, ATAD5 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 144773	GRCh38/hg38 17q11.2(chr17:30614048-30969331)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GUncertain significance
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 145059	GRCh38/hg38 17q11.2(chr17:30642544-31005259)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 59306	GRCh38/hg38 17q11.2(chr17:30650145-31015565)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 1678524	NC_000017.11:g.30660608_31159168inv	ADAP2, ATAD5 +27 more	Inversion	Neurofibromatosis, type 1	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 148464	GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 154090	GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3	ADAP2, ATAD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 3130750	NM_024857.5(ATAD5):c.37C>G (p.Pro13Ala)	ATAD5 (P13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059114	NM_024857.5(ATAD5):c.39G>C (p.Pro13=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GBenign
Select item 2228520	NM_024857.5(ATAD5):c.89A>T (p.Asp30Val)	ATAD5 (D30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518840	NM_024857.5(ATAD5):c.97A>G (p.Thr33Ala)	ATAD5 (T33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060175	NM_024857.5(ATAD5):c.103A>T (p.Thr35Ser)	ATAD5 (T35S)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GBenign
Select item 3041965	NM_024857.5(ATAD5):c.154A>C (p.Arg52=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GLikely benign
Select item 2612095	NM_024857.5(ATAD5):c.170C>G (p.Pro57Arg)	ATAD5 (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035167	NM_024857.5(ATAD5):c.228A>G (p.Thr76=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GLikely benign
Select item 2647625	NM_024857.5(ATAD5):c.246C>T (p.Cys82=)	ATAD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059655	NM_024857.5(ATAD5):c.259C>T (p.Pro87Ser)	ATAD5 (P87S)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GBenign
Select item 2593456	NM_024857.5(ATAD5):c.377T>C (p.Ile126Thr)	ATAD5 (I126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060074	NM_024857.5(ATAD5):c.404A>G (p.Glu135Gly)	ATAD5 (E135G)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GBenign
Select item 3043100	NM_024857.5(ATAD5):c.418G>A (p.Asp140Asn)	ATAD5 (D140N)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GLikely benign
Select item 2239182	NM_024857.5(ATAD5):c.551C>T (p.Ser184Phe)	ATAD5 (S184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243538	NM_024857.5(ATAD5):c.599A>C (p.Asn200Thr)	ATAD5 (N200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040251	NM_024857.5(ATAD5):c.666G>A (p.Leu222=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GLikely benign
Select item 2534110	NM_024857.5(ATAD5):c.701A>C (p.Lys234Thr)	ATAD5 (K234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130758	NM_024857.5(ATAD5):c.717G>A (p.Met239Ile)	ATAD5 (M239I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059306	NM_024857.5(ATAD5):c.746G>A (p.Arg249Lys)	ATAD5 (R249K)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GBenign
Select item 2399349	NM_024857.5(ATAD5):c.777T>A (p.Asn259Lys)	ATAD5 (N259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055573	NM_024857.5(ATAD5):c.891C>T (p.Asp297=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GBenign
Select item 3041062	NM_024857.5(ATAD5):c.892G>A (p.Glu298Lys)	ATAD5 (E298K)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GLikely benign
Select item 750539	NM_024857.5(ATAD5):c.942C>T (p.Ser314=)	ATAD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371109	NM_024857.5(ATAD5):c.977C>T (p.Ala326Val)	ATAD5 (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130759	NM_024857.5(ATAD5):c.989C>A (p.Pro330His)	ATAD5 (P330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286667	NM_024857.5(ATAD5):c.991A>G (p.Ile331Val)	ATAD5 (I331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130733	NM_024857.5(ATAD5):c.1016T>C (p.Ile339Thr)	ATAD5 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130734	NM_024857.5(ATAD5):c.1022G>A (p.Arg341Gln)	ATAD5 (R341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130735	NM_024857.5(ATAD5):c.1065A>T (p.Leu355Phe)	ATAD5 (L355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059933	NM_024857.5(ATAD5):c.1074T>C (p.Pro358=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GBenign
Select item 2393500	NM_024857.5(ATAD5):c.1094A>G (p.Gln365Arg)	ATAD5 (Q365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039226	NM_024857.5(ATAD5):c.1113T>G (p.Val371=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GBenign
Select item 2523542	NM_024857.5(ATAD5):c.1186A>G (p.Thr396Ala)	ATAD5 (T396A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476497	NM_024857.5(ATAD5):c.1241C>T (p.Ala414Val)	ATAD5 (A414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484298	NM_024857.5(ATAD5):c.1280A>G (p.Lys427Arg)	ATAD5 (K427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130736	NM_024857.5(ATAD5):c.1283A>G (p.Asp428Gly)	ATAD5 (D428G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130737	NM_024857.5(ATAD5):c.1309G>A (p.Val437Ile)	ATAD5 (V437I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495399	NM_024857.5(ATAD5):c.1313G>A (p.Gly438Glu)	ATAD5 (G438E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130738	NM_024857.5(ATAD5):c.1402G>A (p.Gly468Arg)	ATAD5 (G468R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399103	NM_024857.5(ATAD5):c.1447A>G (p.Lys483Glu)	ATAD5 (K483E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321686	NM_024857.5(ATAD5):c.1595C>A (p.Thr532Asn)	ATAD5 (T532N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130739	NM_024857.5(ATAD5):c.1670A>G (p.Asn557Ser)	ATAD5 (N557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510667	NM_024857.5(ATAD5):c.1714A>G (p.Ile572Val)	ATAD5 (I572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054877	NM_024857.5(ATAD5):c.1727A>C (p.Gln576Pro)	ATAD5 (Q576P)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GLikely benign
Select item 2592889	NM_024857.5(ATAD5):c.1765T>C (p.Ser589Pro)	ATAD5 (S589P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561480	NM_024857.5(ATAD5):c.1769C>T (p.Thr590Met)	ATAD5 (T590M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130741	NM_024857.5(ATAD5):c.1856A>G (p.Asp619Gly)	ATAD5 (D619G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309067	NM_024857.5(ATAD5):c.1885A>G (p.Lys629Glu)	ATAD5 (K629E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547826	NM_024857.5(ATAD5):c.1901C>T (p.Ser634Leu)	ATAD5 (S634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400646	NM_024857.5(ATAD5):c.1913G>A (p.Ser638Asn)	ATAD5 (S638N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606601	NM_024857.5(ATAD5):c.1973A>C (p.Lys658Thr)	ATAD5 (K658T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526203	NM_024857.5(ATAD5):c.1991C>T (p.Thr664Ile)	ATAD5 (T664I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060476	NM_024857.5(ATAD5):c.2095A>C (p.Asn699His)	ATAD5 (N699H)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GBenign
Select item 2559754	NM_024857.5(ATAD5):c.2173G>A (p.Ala725Thr)	ATAD5 (A725T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130742	NM_024857.5(ATAD5):c.2177T>A (p.Ile726Lys)	ATAD5 (I726K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466112	NM_024857.5(ATAD5):c.2245T>C (p.Ser749Pro)	ATAD5 (S749P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353672	NM_024857.5(ATAD5):c.2273C>T (p.Thr758Ile)	ATAD5 (T758I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130743	NM_024857.5(ATAD5):c.2337A>T (p.Lys779Asn)	ATAD5 (K779N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130744	NM_024857.5(ATAD5):c.2359A>G (p.Asn787Asp)	ATAD5 (N787D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130745	NM_024857.5(ATAD5):c.2411A>G (p.Gln804Arg)	ATAD5 (Q804R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759660	NM_024857.5(ATAD5):c.2478T>C (p.Asp826=)	ATAD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409029	NM_024857.5(ATAD5):c.2498C>T (p.Ala833Val)	ATAD5 (A833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484808	NM_024857.5(ATAD5):c.2543G>A (p.Arg848Gln)	ATAD5 (R848Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531826	NM_024857.5(ATAD5):c.2659C>G (p.Pro887Ala)	ATAD5 (P887A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531827	NM_024857.5(ATAD5):c.2692G>A (p.Glu898Lys)	ATAD5 (E898K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049297	NM_024857.5(ATAD5):c.2775C>T (p.Ser925=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GLikely benign
Select item 3035724	NM_024857.5(ATAD5):c.2778T>G (p.Gly926=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GLikely benign
Select item 2350812	NM_024857.5(ATAD5):c.2851A>C (p.Ile951Leu)	ATAD5 (I951L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343732	NM_024857.5(ATAD5):c.2922C>G (p.His974Gln)	ATAD5 (H974Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325723	NM_024857.5(ATAD5):c.2933C>A (p.Ser978Tyr)	ATAD5 (S978Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514951	NM_024857.5(ATAD5):c.2950A>G (p.Lys984Glu)	ATAD5 (K984E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040818	NM_024857.5(ATAD5):c.2956+9T>C	ATAD5	Single nucleotide variant (intron variant)	ATAD5-related disorder	GLikely benign
Select item 3060541	NM_024857.5(ATAD5):c.3003A>G (p.Val1001=)	ATAD5	Single nucleotide variant (synonymous variant)	ATAD5-related disorder	GBenign
Select item 3130747	NM_024857.5(ATAD5):c.3004G>A (p.Glu1002Lys)	ATAD5 (E1002K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041803	NM_024857.5(ATAD5):c.3088C>T (p.Leu1030Phe)	ATAD5 (L1030F)	Single nucleotide variant (missense variant)	ATAD5-related disorder	GBenign
Select item 3130748	NM_024857.5(ATAD5):c.3119A>G (p.Lys1040Arg)	ATAD5 (K1040R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779456	NM_024857.5(ATAD5):c.3137-7G>T	ATAD5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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