1822[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
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 condition	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 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 1304826	NM_001940.4(ATN1):c.513G>A (p.Pro171=)	ATN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2214380	NM_001940.4(ATN1):c.536C>T (p.Pro179Leu)	ATN1 (P179L)	Single nucleotide variant (missense variant)	ATN1-related condition +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 condition	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)	Inborn genetic diseases +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 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 condition +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 condition	GUncertain significance
Select item 2278575	NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)	ATN1 (P275L)	Single nucleotide variant (missense variant)	ATN1-related condition +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)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases +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 2633634	NM_001940.4(ATN1):c.1256_1257del (p.Ser419fs)	ATN1 (S418fs +1 more)	Microsatellite (frameshift variant)	ATN1-related condition	GUncertain significance
Select item 2346578	NM_001940.4(ATN1):c.1265A>G (p.Asn422Ser)	ATN1 (N422S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 condition	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 420621	NM_001007026.1(ATN1):c.1462CAG[23] (p.Gln488[23])	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 3024849	NM_001940.4(ATN1):c.1455A>G (p.Gln485=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043085	NM_001940.4(ATN1):c.1464GCA[23] (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGln)	ATN1, LOC109461484	Microsatellite (inframe insertion +1 more)	ATN1-related condition	GLikely benign
Select item 2642645	NM_001940.4(ATN1):c.1464GCA[20] (p.Gln498_Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2359127	NM_001940.4(ATN1):c.1464GCA[25] (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 982647	NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 599473	NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not specified +4 more	GBenign/Likely benign
Select item 210377	NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Dentatorubral-pallidoluysian atrophy +2 more	GConflicting classifications of pathogenicity
Select item 210373	NM_001940.4(ATN1):c.1461A>G (p.Gln487=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3055682	NM_001940.4(ATN1):c.1464GCA[13] (p.Gln501_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe deletion +2 more)	ATN1-related condition	GBenign
Select item 2642646	NM_001940.4(ATN1):c.1464GCA[7] (p.Gln495_Gln502del)	ATN1, LOC109461484 (Q494del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 2351599	NM_001940.4(ATN1):c.1464GCA[6] (p.Gln494_Gln502del)	LOC109461484, ATN1	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 1691010	NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	ATN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1285148	NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 1174682	NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)	ATN1, LOC109461484 (Q502del)	Microsatellite (inframe_deletion)	ATN1-related condition +2 more	GLikely benign
Select item 1050478	NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 917563	NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 38905	NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])	LOC109461484, ATN1	Microsatellite	Dentatorubral-pallidoluysian atrophy	GPathogenic
Select item 38904	NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])	ATN1, LOC109461484	Microsatellite	Dentatorubral-pallidoluysian atrophy	GBenign
Select item 37031	NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])	ATN1, LOC109461484	Microsatellite	Dentatorubral-pallidoluysian atrophy	GPathogenic
Select item 2642647	NM_001940.4(ATN1):c.1464G>A (p.Gln488=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1187119	NM_001940.4(ATN1):c.1467G>A (p.Gln489=)	LOC109461484, ATN1	Single nucleotide variant (synonymous variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GLikely benign
Select item 210374	NM_001940.4(ATN1):c.1469_1476del (p.Gln490fs)	ATN1, LOC109461484 (Q490fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 210375	NM_001940.4(ATN1):c.1471_1472insCAGCAG (p.Gln491delinsProAlaGlu)	ATN1, LOC109461484	Insertion (inframe_indel)	not specified	GLikely benign
Select item 210376	NM_001940.4(ATN1):c.1472_1476del (p.Gln491fs)	ATN1, LOC109461484 (Q491fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1319377	NM_001940.4(ATN1):c.1494G>T (p.Gln498His)	ATN1, LOC109461484 (Q498H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642648	NM_001940.4(ATN1):c.1497G>A (p.Gln499=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439319	NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)	ATN1, LOC109461484	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2265695	NM_001940.4(ATN1):c.1508_1509insGCAGCATCA (p.Gln502_His503insGlnGlnHis)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2214258	NM_001940.4(ATN1):c.1508_1509insGCAGCAGCAGCATCA (p.Gln502_His503insGlnGlnGlnGlnHis)	LOC109461484, ATN1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 806817	NM_001940.4(ATN1):c.1506G>T (p.Gln502His)	ATN1, LOC109461484 (Q502H)	Single nucleotide variant (missense variant)	not provided	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 condition	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

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