ATN1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439322	NM_001940.4(ATN1):c.-162-2712A>G	ATN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3048305	NM_001940.4(ATN1):c.86C>T (p.Ser29Leu)	ATN1 (S29L)	Single nucleotide variant (missense variant)	ATN1-related disorder	GLikely benign
Select item 2253963	NM_001940.4(ATN1):c.146A>C (p.Lys49Thr)	ATN1 (K49T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131106	NM_001940.4(ATN1):c.173G>A (p.Arg58Gln)	ATN1 (R58Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370444	NM_001940.4(ATN1):c.211G>A (p.Gly71Ser)	ATN1 (G71S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486663	NM_001940.4(ATN1):c.254A>G (p.Asn85Ser)	ATN1 (N85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371947	NM_001940.4(ATN1):c.281A>G (p.Gln94Arg)	ATN1 (Q94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297150	NM_001940.4(ATN1):c.295C>A (p.Pro99Thr)	ATN1 (P99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672489	NM_001940.4(ATN1):c.357C>T (p.Ser119=)	ATN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 210378	NM_001940.4(ATN1):c.408C>T (p.Tyr136=)	ATN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3068019	NM_001940.4(ATN1):c.430_444del (p.Asp144_Ser148del)	ATN1	Deletion (inframe_deletion +1 more)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 2497949	NM_001940.4(ATN1):c.467C>T (p.Ala156Val)	ATN1 (A156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601667	NM_001940.4(ATN1):c.485C>G (p.Pro162Arg)	ATN1 (P161R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131117	NM_001940.4(ATN1):c.496C>G (p.Pro166Ala)	ATN1 (P165A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131118	NM_001940.4(ATN1):c.512C>T (p.Pro171Leu)	ATN1 (P171L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1304826	NM_001940.4(ATN1):c.513G>A (p.Pro171=)	ATN1	Single nucleotide variant (synonymous variant)	ATN1-related disorder +1 more	GBenign
Select item 3131119	NM_001940.4(ATN1):c.530G>A (p.Arg177Gln)	ATN1 (R177Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214380	NM_001940.4(ATN1):c.536C>T (p.Pro179Leu)	ATN1 (P179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2329447	NM_001940.4(ATN1):c.548T>G (p.Phe183Cys)	ATN1 (F183C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 806816	NM_001940.4(ATN1):c.553C>G (p.Pro185Ala)	ATN1 (P185A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2402898	NM_001940.4(ATN1):c.594G>A (p.Met198Ile)	ATN1 (M198I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040448	NM_001940.4(ATN1):c.644C>T (p.Pro215Leu)	ATN1 (P214L +1 more)	Single nucleotide variant (missense variant)	ATN1-related disorder +1 more	GLikely benign
Select item 2394895	NM_001940.4(ATN1):c.697A>G (p.Met233Val)	ATN1 (M233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 982646	NM_001940.4(ATN1):c.706A>C (p.Lys236Gln)	ATN1 (K236Q)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GLikely benign
Select item 2439320	NM_001940.4(ATN1):c.710G>A (p.Gly237Glu)	ATN1 (G237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405097	NM_001940.4(ATN1):c.710G>T (p.Gly237Val)	ATN1 (G237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234201	NM_001940.4(ATN1):c.730G>C (p.Val244Leu)	ATN1 (V243L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3131120	NM_001940.4(ATN1):c.730G>T (p.Val244Leu)	ATN1 (V243L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131121	NM_001940.4(ATN1):c.737G>A (p.Gly246Asp)	ATN1 (G245D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578674	NM_001940.4(ATN1):c.738C>A (p.Gly246=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701183	NM_001940.4(ATN1):c.748G>A (p.Gly250Ser)	ATN1 (G250S)	Single nucleotide variant (missense variant)	ATN1-related disorder +1 more	GBenign
Select item 2365522	NM_001940.4(ATN1):c.758A>C (p.His253Pro)	ATN1 (H253P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636576	NM_001940.4(ATN1):c.760C>A (p.Pro254Thr)	ATN1 (P253T +1 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GUncertain significance
Select item 2278575	NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)	ATN1 (P275L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2642642	NM_001940.4(ATN1):c.825G>A (p.Pro275=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278808	NM_001940.4(ATN1):c.856C>T (p.Pro286Ser)	ATN1 (P286S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541516	NM_001940.4(ATN1):c.866C>T (p.Pro289Leu)	ATN1 (P289L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364801	NM_001940.4(ATN1):c.875C>G (p.Ala292Gly)	ATN1 (A292G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2508161	NM_001940.4(ATN1):c.896C>T (p.Pro299Leu)	ATN1 (P299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250383	NM_001940.4(ATN1):c.930CAA[1] (p.Asn312del)	ATN1 (N312del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3025614	NM_001940.4(ATN1):c.939A>G (p.Ala313=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624021	NM_001940.4(ATN1):c.964G>A (p.Ala322Thr)	ATN1 (A321T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253072	NM_001940.4(ATN1):c.994C>T (p.Pro332Ser)	ATN1 (P332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328879	NM_001940.4(ATN1):c.1005G>A (p.Met335Ile)	ATN1 (M335I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3131101	NM_001940.4(ATN1):c.1057G>T (p.Ala353Ser)	ATN1 (A352S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541666	NM_001940.4(ATN1):c.1067C>T (p.Pro356Leu)	ATN1 (P356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309124	NM_001940.4(ATN1):c.1079C>T (p.Pro360Leu)	ATN1 (P360L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570817	NM_001940.4(ATN1):c.1101A>G (p.Pro367=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1722931	NM_001940.4(ATN1):c.1106C>T (p.Pro369Leu)	ATN1 (P369L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439317	NM_001940.4(ATN1):c.1136G>T (p.Ser379Ile)	ATN1 (S379I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2642643	NM_001940.4(ATN1):c.1190C>T (p.Ser397Phe)	ATN1 (S396F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477167	NM_001940.4(ATN1):c.1193C>T (p.Pro398Leu)	ATN1 (P398L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131102	NM_001940.4(ATN1):c.1201G>A (p.Ala401Thr)	ATN1 (A401T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131103	NM_001940.4(ATN1):c.1208A>G (p.Gln403Arg)	ATN1 (Q402R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633634	NM_001940.4(ATN1):c.1256_1257del (p.Ser419fs)	ATN1 (S418fs +1 more)	Microsatellite (frameshift variant)	ATN1-related disorder	GUncertain significance
Select item 2346578	NM_001940.4(ATN1):c.1265A>G (p.Asn422Ser)	ATN1 (N422S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2471021	NM_001940.4(ATN1):c.1325C>T (p.Pro442Leu)	ATN1 (P442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591761	NM_001940.4(ATN1):c.1349G>A (p.Arg450His)	ATN1 (R449H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2642644	NM_001940.4(ATN1):c.1392C>T (p.Pro464=)	ATN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630510	NM_001940.4(ATN1):c.1426G>A (p.Val476Ile)	ATN1 (V475I +1 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GUncertain significance
Select item 2603950	NM_001940.4(ATN1):c.1446C>G (p.His482Gln)	ATN1 (H482Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642649	NM_001940.4(ATN1):c.1509T>G (p.His503Gln)	ATN1 (H495Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 806818	NM_001940.4(ATN1):c.1509T>C (p.His503=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3057333	NM_001940.4(ATN1):c.1541C>T (p.Ala514Val)	ATN1 (A506V +3 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GLikely benign
Select item 2479957	NM_001940.4(ATN1):c.1550A>G (p.His517Arg)	ATN1 (H517R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2242041	NM_001940.4(ATN1):c.1556T>C (p.Leu519Pro)	ATN1 (L519P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064958	NM_001940.4(ATN1):c.1586C>G (p.Pro529Arg)	ATN1 (P521R +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 1311217	NM_001940.4(ATN1):c.1604_1607del (p.Ser535fs)	ATN1 (S535fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2582516	NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)	ATN1 (S527Y +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GUncertain significance
Select item 128461	NM_001940.4(ATN1):c.1647G>A (p.Leu549=)	ATN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2357464	NM_001940.4(ATN1):c.1660A>G (p.Ser554Gly)	ATN1 (S554G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131105	NM_001940.4(ATN1):c.1718A>G (p.Asn573Ser)	ATN1 (N565S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595977	NM_001940.4(ATN1):c.1723T>A (p.Ser575Thr)	ATN1 (S567T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595979	NM_001940.4(ATN1):c.1724C>A (p.Ser575Tyr)	ATN1 (S575Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642650	NM_001940.4(ATN1):c.1752A>G (p.Pro584=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536347	NM_001940.4(ATN1):c.1765T>A (p.Ser589Thr)	ATN1 (S589T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131107	NM_001940.4(ATN1):c.1787G>A (p.Gly596Glu)	ATN1 (G589E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359728	NM_001940.4(ATN1):c.1790C>T (p.Ala597Val)	ATN1 (A597V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131108	NM_001940.4(ATN1):c.1799C>T (p.Pro600Leu)	ATN1 (P599L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300781	NM_001940.4(ATN1):c.1852A>G (p.Ile618Val)	ATN1 (I618V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642651	NM_001940.4(ATN1):c.1860C>T (p.Thr620=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690746	NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)	ATN1 (A622G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3131109	NM_001940.4(ATN1):c.1898C>T (p.Pro633Leu)	ATN1 (P632L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3131110	NM_001940.4(ATN1):c.1915T>A (p.Tyr639Asn)	ATN1 (Y638N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631511	NM_001940.4(ATN1):c.1927G>A (p.Ala643Thr)	ATN1 (A635T +3 more)	Single nucleotide variant (missense variant)	ATN1-related disorder	GUncertain significance
Select item 3131111	NM_001940.4(ATN1):c.1942G>A (p.Ala648Thr)	ATN1 (A648T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064478	NM_001940.4(ATN1):c.1961C>T (p.Pro654Leu)	ATN1 (P646L +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 1694656	NM_001940.4(ATN1):c.1968A>C (p.Gly656=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642652	NM_001940.4(ATN1):c.2014G>C (p.Gly672Arg)	ATN1 (G664R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560149	NM_001940.4(ATN1):c.2021G>A (p.Arg674Gln)	ATN1 (R674Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696677	NM_001940.4(ATN1):c.2066C>T (p.Ser689Leu)	ATN1 (S689L)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GUncertain significance
Select item 2512189	NM_001940.4(ATN1):c.2084G>A (p.Gly695Glu)	ATN1 (G695E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439324	NM_001940.4(ATN1):c.2090T>C (p.Leu697Pro)	ATN1 (L697P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298533	NM_001940.4(ATN1):c.2157G>A (p.Pro719=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230501	NM_001940.4(ATN1):c.2158C>T (p.Pro720Ser)	ATN1 (P720S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2642653	NM_001940.4(ATN1):c.2234G>T (p.Arg745Leu)	ATN1 (R737L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522231	NM_001940.4(ATN1):c.2260G>A (p.Val754Ile)	ATN1 (V754I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305686	NM_001940.4(ATN1):c.2301C>G (p.Asn767Lys)	ATN1 (N767K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131112	NM_001940.4(ATN1):c.2407G>A (p.Val803Met)	ATN1 (V802M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463568	NM_001940.4(ATN1):c.2413C>T (p.Arg805Cys)	ATN1 (R805C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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