Related gene-specific medical variations for Gene (Select 1822) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370105	NM_001940.4(ATN1):c.1465C>G (p.Gln489Glu)	ATN1, LOC109461484 (Q488E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360152	NM_001940.4(ATN1):c.1185_1198del (p.Ala396fs)	ATN1 (A395fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3359862	NM_001940.4(ATN1):c.225_226del (p.Glu75fs)	ATN1 (E75fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3250475	NM_001940.4(ATN1):c.3095C>A (p.Ala1032Glu)	ATN1 (A1024E +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	GBenign
Select item 3131104	NM_001940.4(ATN1):c.1469A>G (p.Gln490Arg)	ATN1, LOC109461484 (Q490R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3055682	NM_001940.4(ATN1):c.1464GCA[13] (p.Gln501_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_indel)	ATN1-related disorder	GBenign
Select item 3047820	NM_001940.4(ATN1):c.2289T>A (p.Ser763=)	ATN1, LOC130007290	Single nucleotide variant (synonymous variant)	ATN1-related disorder	GLikely benign
Select item 3043085	NM_001940.4(ATN1):c.1464GCA[23] (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGln)	ATN1, LOC109461484	Microsatellite (inframe_indel)	ATN1-related disorder	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 2642648	NM_001940.4(ATN1):c.1497G>A (p.Gln499=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2642646	NM_001940.4(ATN1):c.1464GCA[7] (p.Gln495_Gln502del)	ATN1, LOC109461484 (Q494del)	Microsatellite (inframe_deletion +1 more)	not provided	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 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 2557081	NM_001940.4(ATN1):c.2282G>C (p.Ser761Thr)	ATN1, LOC130007290 (S761T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439325	NM_001940.4(ATN1):c.2930T>C (p.Leu977Pro)	ATN1 (L977P)	Single nucleotide variant (missense variant)	not provided	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 2439323	NM_001940.4(ATN1):c.3454C>T (p.Arg1152Cys)	ATN1 (R1152C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439322	NM_001940.4(ATN1):c.-162-2712A>G	ATN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2439319	NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)	ATN1, LOC109461484	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2439318	NM_001940.4(ATN1):c.3250G>A (p.Ala1084Thr)	ATN1 (A1084T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2351599	NM_001940.4(ATN1):c.1464GCA[6] (p.Gln494_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely benign
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)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 1810647	NM_001940.4(ATN1):c.2285_2288del (p.Gln762fs)	ATN1, LOC130007290 (Q762fs)	Microsatellite (frameshift variant)	not provided	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 1691010	NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	See cases	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 1306081	NM_001940.4(ATN1):c.2264_2270delinsTTGTACA (p.Asp755_Pro757delinsValValHis)	ATN1, LOC130007290	Indel (missense variant)	not provided	GUncertain significance
Select item 1285148	NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 1196275	NM_001940.4(ATN1):c.2270C>A (p.Pro757His)	ATN1, LOC130007290 (P757H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187119	NM_001940.4(ATN1):c.1467G>A (p.Gln489=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1174682	NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)	LOC109461484, ATN1 (Q502del)	Microsatellite (inframe_deletion)	Dentatorubral-pallidoluysian atrophy +1 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 982647	NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more	GBenign/Likely benign
Select item 917563	NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)	ATN1, LOC109461484	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 806818	NM_001940.4(ATN1):c.1509T>C (p.His503=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	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 806816	NM_001940.4(ATN1):c.553C>G (p.Pro185Ala)	ATN1 (P185A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599473	NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 590267	NG_008047.1:g.17267CAG[(54-68)]	ATN1	Microsatellite	Dentatorubral-pallidoluysian atrophy	GPathogenic
Select item 487498	NM_001940.4(ATN1):c.3188T>G (p.Leu1063Arg)	ATN1 (L1063R)	Single nucleotide variant (missense variant)	Congenital ATN1 related disorder	GPathogenic
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 210376	NM_001940.4(ATN1):c.1472_1476del (p.Gln491fs)	ATN1, LOC109461484 (Q491fs)	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 210374	NM_001940.4(ATN1):c.1469_1476del (p.Gln490fs)	ATN1, LOC109461484 (Q490fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 210373	NM_001940.4(ATN1):c.1461A>G (p.Gln487=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55