ClinVar for Gene (Select 11273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063469	GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3063451	GRCh37/hg19 16p11.2(chr16:28824490-28932234)x3	ATP2A1, ATXN2L +3 more	Copy number gain	not specified	GPathogenic
Select item 3063422	GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1	APOBR, ATP2A1 +17 more	Copy number loss	not specified	GPathogenic
Select item 3063415	GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685567	GRCh37/hg19 16p11.2(chr16:28824491-29070000)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 2685565	GRCh37/hg19 16p11.2(chr16:28819029-29088624)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 2685564	GRCh37/hg19 16p11.2(chr16:28747521-29084772)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 2684802	GRCh37/hg19 16p11.2(chr16:28819029-28998525)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684801	GRCh37/hg19 16p11.2(chr16:28802398-29051191)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684800	GRCh37/hg19 16p11.2(chr16:28747521-29043450)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684799	GRCh37/hg19 16p11.2(chr16:28441539-29351827)x3	APOBR, ATP2A1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2646354	NM_007245.4(ATXN2L):c.1986T>C (p.Asn662=)	ATXN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620995	NM_007245.4(ATXN2L):c.1529C>G (p.Ser510Cys)	ATXN2L (S447C +3 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603092	NM_007245.4(ATXN2L):c.1907C>T (p.Pro636Leu)	ATXN2L (P573L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580325	GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1	ATP2A1, ATXN2L +7 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2559222	NM_007245.4(ATXN2L):c.1298C>T (p.Thr433Ile)	ATXN2L (T370I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546612	NM_007245.4(ATXN2L):c.688C>T (p.Arg230Cys)	ATXN2L (R230C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540781	NM_007245.4(ATXN2L):c.620A>G (p.Lys207Arg)	ATXN2L (K207R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540460	NM_007245.4(ATXN2L):c.2151C>G (p.Ile717Met)	ATXN2L (I717M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537355	NM_007245.4(ATXN2L):c.1445C>T (p.Ser482Leu)	ATXN2L (S488L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531876	NM_007245.4(ATXN2L):c.52C>A (p.Pro18Thr)	ATXN2L, LOC130058734 (P18T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519344	NM_007245.4(ATXN2L):c.1010G>A (p.Arg337Gln)	ATXN2L (G282R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486125	NM_007245.4(ATXN2L):c.1288T>C (p.Ser430Pro)	ATXN2L (S430P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473923	NM_007245.4(ATXN2L):c.2602C>T (p.Leu868Phe)	ATXN2L (L868F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467036	NM_007245.4(ATXN2L):c.110G>A (p.Gly37Asp)	ATXN2L, LOC130058734 (G37D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462855	NM_007245.4(ATXN2L):c.131C>A (p.Thr44Asn)	ATXN2L, LOC130058734 (T44N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462637	NM_007245.4(ATXN2L):c.1826A>G (p.Lys609Arg)	ATXN2L (K585R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460967	NM_007245.4(ATXN2L):c.88G>T (p.Gly30Cys)	ATXN2L, LOC130058734 (G30C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455097	NM_007245.4(ATXN2L):c.3010G>A (p.Ala1004Thr)	ATXN2L (A1010T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2383851	NM_007245.4(ATXN2L):c.2693C>T (p.Ala898Val)	ATXN2L (A835V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372008	NM_007245.4(ATXN2L):c.3133A>G (p.Arg1045Gly)	ATXN2L (R1051G +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2333834	NM_007245.4(ATXN2L):c.937A>G (p.Ile313Val)	ATXN2L (I313V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325778	NM_007245.4(ATXN2L):c.986C>T (p.Ala329Val)	ATXN2L (A329V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282543	NM_007245.4(ATXN2L):c.362C>G (p.Ser121Cys)	ATXN2L (S121C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276710	NM_007245.4(ATXN2L):c.224G>A (p.Gly75Asp)	ATXN2L, LOC130058734 (G75D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256214	NM_007245.4(ATXN2L):c.689G>T (p.Arg230Leu)	ATXN2L (R230L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255343	NM_007245.4(ATXN2L):c.929G>A (p.Arg310His)	ATXN2L (R310H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240864	NM_007245.4(ATXN2L):c.2161C>T (p.Pro721Ser)	ATXN2L (P697S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214517	NM_007245.4(ATXN2L):c.2866G>A (p.Gly956Ser)	ATXN2L (G938S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214145	NM_007245.4(ATXN2L):c.1414C>T (p.Pro472Ser)	ATXN2L (P409S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809394	GRCh37/hg19 16p11.2(chr16:28371468-29342589)x3	APOBR, ATP2A1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1808864	GRCh37/hg19 16p11.2(chr16:28384464-29432245)x3	APOBR, ATP2A1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1808612	GRCh37/hg19 16p11.2(chr16:28763835-29051191)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 1808112	GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807834	GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710520	GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1	CLN3, EIF3C +15 more	Copy number loss	not provided	GPathogenic
Select item 1703567	GRCh37/hg19 16p11.2(chr16:28349949-29342589)	APOBR, ATP2A1 +17 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703523	GRCh37/hg19 16p11.2(chr16:28689085-29051191)	ATP2A1, ATXN2L +8 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1679691	Single allele	LOC130058744, LOC130058745 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1373701	NC_000016.9:g.(?_28835713)_(28917080_?)dup	ATP2A1, ATXN2L +3 more	Duplication	not provided	GUncertain significance
Select item 1342030	NM_007245.4(ATXN2L):c.1660-15G>A	ATXN2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341176	GRCh37/hg19 16p11.2(chr16:28485883-29416001)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340944	GRCh37/hg19 16p11.2(chr16:28837905-29088624)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 1340938	GRCh37/hg19 16p11.2(chr16:28819029-29043450)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340752	GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1	APOBR, ATP2A1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1340300	GRCh37/hg19 16p11.2(chr16:28384465-29351826)x3	APOBR, ATP2A1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1330187	GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1	ATP2A1, ATXN2L +7 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330173	GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3	EIF3C, EIF3CL +20 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1326293	GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3	NFATC2IP-AS1, RABEP2 +36 more	Copy number gain	not provided	Gnot provided
Select item 1184309	NC_000016.10:g.28812342_29035950dup	LOC130058735, ATP2A1 +34 more	Duplication	not provided	GUncertain significance
Select item 1077191	Single allele	ATP2A1, ATXN2L +8 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 1073956	NC_000016.9:g.(?_28488827)_(28950294_?)del	ATXN2L, APOBR +12 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 997064	GRCh37/hg19 16p11.2(chr16:28615644-29042118)	ATP2A1, CD19 +9 more	Copy number gain	Familial atrioventricular septal defect +2 more	GPathogenic
Select item 988931	GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3	NUPR1, RABEP2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 979445	GRCh37/hg19 16p11.2(chr16:28384463-29343462)x3	ATP2A1, ATXN2L +16 more	Copy number gain	not provided	GUncertain significance
Select item 979444	GRCh37/hg19 16p11.2(chr16:28819028-28976572)x3	RABEP2, TUFM +5 more	Copy number gain	not provided	GUncertain significance
Select item 979442	GRCh37/hg19 16p11.2(chr16:28819028-28988225)x1	CD19, ATXN2L +6 more	Copy number loss	not provided	GPathogenic
Select item 979440	GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1	ATXN2L, PAGR1 +44 more	Copy number loss	not provided	GPathogenic
Select item 979439	GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1	CLN3, EIF3C +17 more	Copy number loss	not provided	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 929355	GRCh37/hg19 16p11.2(chr16:28825605-29043450)x3	ATP2A1, ATXN2L +7 more	Copy number gain	See cases	GLikely pathogenic
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815816	GRCh37/hg19 16p11.2(chr16:28545586-29351826)x3	TUFM, SGF29 +12 more	Copy number gain	not provided	GUncertain significance
Select item 815815	GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1	ZG16, QPRT +44 more	Copy number loss	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 812191	Single allele	RABEP2, TUFM +7 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 775041	NM_007245.4(ATXN2L):c.393+8G>A	ATXN2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714697	NM_007245.4(ATXN2L):c.2412C>T (p.Pro804=)	ATXN2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689662	NM_007245.4(ATXN2L):c.944T>C (p.Met315Thr)	ATXN2L (M315T +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 687737	GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1	ALDOA, APOBR +44 more	Copy number loss	not provided	GPathogenic
Select item 685912	GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3	APOBR, ATP2A1 +17 more	Copy number gain	not provided	GPathogenic
Select item 685632	GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1	ALDOA, APOBR +44 more	Copy number loss	not provided	GPathogenic
Select item 625601	GRCh37/hg19 16p11.2(chr16:28734571-29043450)	ATP2A1, ATXN2L +8 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625600	GRCh37/hg19 16p11.2(chr16:28529940-28906458)	ATP2A1, ATXN2L +7 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 583588	NC_000016.10:g.(?_28824392)_(28904205_?)del	ATP2A1, ATP2A1-AS1 +13 more	Deletion	Brody myopathy	GPathogenic

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