ClinVar for Gene (Select 84901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299494	NM_032815.4(NFATC2IP):c.125C>T (p.Thr42Met)	NFATC2IP (T42M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3243421	NC_000016.9:g.(?_28488837)_(29001333_?)del	APOBR, ATP2A1 +15 more	Deletion	Brody myopathy	GPathogenic
Select item 3242305	GRCh37/hg19 16p11.2(chr16:28823315-29047087)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GPathogenic
Select item 3196677	NM_032815.4(NFATC2IP):c.808C>T (p.Arg270Cys)	NFATC2IP (R270C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196666	NM_032815.4(NFATC2IP):c.479C>T (p.Ser160Leu)	NFATC2IP, NFATC2IP-AS1 (S160L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3196653	NM_032815.4(NFATC2IP):c.224C>G (p.Pro75Arg)	NFATC2IP (P75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196647	NM_032815.4(NFATC2IP):c.142G>A (p.Val48Met)	NFATC2IP (V48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063469	GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1	APOBR, ATP2A1 +15 more	Copy number loss	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 2618793	NM_032815.4(NFATC2IP):c.173T>G (p.Ile58Ser)	NFATC2IP (I58S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2513826	NM_032815.4(NFATC2IP):c.640C>T (p.Arg214Trp)	NFATC2IP (R214W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512004	NM_032815.4(NFATC2IP):c.455A>C (p.Glu152Ala)	NFATC2IP (E152A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2388277	NM_032815.4(NFATC2IP):c.632C>T (p.Thr211Met)	NFATC2IP (T211M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387149	NM_032815.4(NFATC2IP):c.329G>T (p.Arg110Leu)	NFATC2IP (R110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341303	NM_032815.4(NFATC2IP):c.784C>T (p.Pro262Ser)	NFATC2IP (P262S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340814	NM_032815.4(NFATC2IP):c.1124T>G (p.Met375Arg)	NFATC2IP (M290R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340183	NM_032815.4(NFATC2IP):c.973G>A (p.Gly325Arg)	NFATC2IP (G298R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326294	NM_032815.4(NFATC2IP):c.11C>T (p.Pro4Leu)	NFATC2IP (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315974	NM_032815.4(NFATC2IP):c.116C>T (p.Ser39Phe)	NFATC2IP (S39F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312681	NM_032815.4(NFATC2IP):c.80G>C (p.Gly27Ala)	NFATC2IP (G27A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243461	NM_032815.4(NFATC2IP):c.242C>T (p.Pro81Leu)	NFATC2IP (P81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238866	NM_032815.4(NFATC2IP):c.383G>A (p.Gly128Glu)	NFATC2IP (G128E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2223747	NM_032815.4(NFATC2IP):c.815G>A (p.Arg272Gln)	NFATC2IP (R245Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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	LAT, LOC112340393 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
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 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 831810	NC_000016.10:g.(?_28932001)_(28963863_?)del	CD19, NFATC2IP	Deletion	not provided	GPathogenic
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 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 685176	GRCh37/hg19 16p11.2(chr16:28878826-28988225)x3	ATP2A1, CD19 +4 more	Copy number gain	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 564316	GRCh37/hg19 16p11.2(chr16:28824490-29043450)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 564315	GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 564314	GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1	CD19, SPNS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 564313	GRCh37/hg19 16p11.2(chr16:28802397-29051191)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 564312	GRCh37/hg19 16p11.2(chr16:28763834-29051191)x1	CD19, ATP2A1 +7 more	Copy number loss	not provided	GPathogenic
Select item 564311	GRCh37/hg19 16p11.2(chr16:28747520-29051191)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 564310	GRCh37/hg19 16p11.2(chr16:28689085-29051191)x1	ATP2A1, ATXN2L +8 more	Copy number loss	not provided	GPathogenic
Select item 564309	GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1	TUFM, SULT1A2 +16 more	Copy number loss	not provided	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 523253	GRCh37/hg19 16p11.2(chr16:28861531-29031059)	ATP2A1, CD19 +5 more	Copy number loss	Macular dystrophy +1 more	GPathogenic
Select item 503583	GRCh37/hg19 16p11.2(chr16:28825605-29043450)x1	ATP2A1, ATXN2L +7 more	Copy number loss	See cases	GPathogenic
Select item 493565	GRCh37/hg19 16p11.2(chr16:28824794-29042118)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GLikely benign
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442994	GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4	APOBR, ATP2A1 +17 more	Copy number gain	See cases	GUncertain significance

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