RABEP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 148782	GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1	ATP2A1, APOBR +70 more	Copy number loss	See cases	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 more	Copy number gain	See cases	GPathogenic
Select item 150351	GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 152023	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	APOBR, ATP2A1 +61 more	Copy number loss	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
Select item 150642	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1	APOBR, ATP2A1 +66 more	Copy number loss	See cases	GPathogenic
Select item 148886	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1	APOBR, ATP2A1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 148497	GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 154502	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3	APOBR, ATP2A1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 146471	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1	LOC130058739, LOC130058740 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 146463	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3	APOBR, ATP2A1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59641	GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1	ATP2A1, ATP2A1-AS1 +48 more	Copy number loss	See cases	GPathogenic
Select item 145658	GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3	ATP2A1, ATP2A1-AS1 +44 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160911	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59293	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 1679691	Single allele	LAT, LOC112340393 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 155233	GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 153218	GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 59643	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GPathogenic
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 148525	GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1	ATP2A1, ATP2A1-AS1 +37 more	Copy number loss	See cases	GPathogenic
Select item 155463	GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 151536	GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1184309	NC_000016.10:g.28812342_29035950dup	LOC130058735, ATP2A1 +34 more	Duplication	not provided	GUncertain significance
Select item 149412	GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 149239	GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1	ATP2A1, ATP2A1-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148483	GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1	ATP2A1, ATP2A1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59296	GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
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 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 59644	GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1	ATP2A1, ATP2A1-AS1 +33 more	Copy number loss	See cases	GPathogenic
Select item 149864	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 149863	GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3	ATP2A1, ATP2A1-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59684	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1	ATP2A1, ATP2A1-AS1 +31 more	Copy number loss	See cases	GPathogenic
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 148434	GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1	ATP2A1, ATP2A1-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 32783	GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	ATP2A1, ATP2A1-AS1 +28 more	Copy number loss	See cases	GPathogenic
Select item 150196	GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 318793	NM_173201.4(ATP2A1):c.*287G>A	ATP2A1, RABEP2	Single nucleotide variant (3 prime UTR variant)	Brody myopathy	GUncertain significance
Select item 318794	NM_173201.4(ATP2A1):c.*298C>T	ATP2A1, RABEP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 2355895	NM_024816.3(RABEP2):c.1628G>A (p.Arg543His)	RABEP2 (R543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488750	NM_024816.3(RABEP2):c.1621C>T (p.Arg541Trp)	RABEP2 (R541W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710473	NM_024816.3(RABEP2):c.1609-10G>A	RABEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2475799	NM_024816.3(RABEP2):c.1585G>A (p.Val529Met)	RABEP2 (V529M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312216	NM_024816.3(RABEP2):c.1538G>A (p.Arg513Gln)	RABEP2 (R513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249270	NM_024816.3(RABEP2):c.1471G>T (p.Val491Leu)	RABEP2 (V491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516094	NM_024816.3(RABEP2):c.1469G>A (p.Arg490Gln)	RABEP2 (R490Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301805	NM_024816.3(RABEP2):c.1429C>G (p.Leu477Val)	RABEP2 (L477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468941	NM_024816.3(RABEP2):c.1346T>C (p.Leu449Pro)	RABEP2 (L449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364256	NM_024816.3(RABEP2):c.1321C>T (p.Arg441Cys)	RABEP2 (R441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405654	NM_024816.3(RABEP2):c.1274G>A (p.Arg425Gln)	RABEP2 (R425Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312218	NM_024816.3(RABEP2):c.1244C>A (p.Pro415Gln)	RABEP2 (P415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292721	NM_024816.3(RABEP2):c.1204C>A (p.Gln402Lys)	RABEP2 (Q402K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539984	NM_024816.3(RABEP2):c.1162C>T (p.Arg388Trp)	RABEP2 (R388W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333314	NM_024816.3(RABEP2):c.1135C>T (p.Arg379Trp)	RABEP2 (R379W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721642	NM_024816.3(RABEP2):c.1131A>G (p.Val377=)	RABEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3312217	NM_024816.3(RABEP2):c.1122C>G (p.His374Gln)	RABEP2 (H374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218482	NM_024816.3(RABEP2):c.1039A>T (p.Thr347Ser)	RABEP2 (T347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150867	NM_024816.3(RABEP2):c.937C>T (p.Arg313Trp)	RABEP2 (R313W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539281	NM_024816.3(RABEP2):c.925G>C (p.Val309Leu)	RABEP2 (V309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211983	NM_024816.3(RABEP2):c.925G>A (p.Val309Ile)	RABEP2 (V309I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150865	NM_024816.3(RABEP2):c.903G>C (p.Gln301His)	RABEP2 (Q301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507949	NM_024816.3(RABEP2):c.806C>T (p.Thr269Met)	RABEP2 (T269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150864	NM_024816.3(RABEP2):c.758G>A (p.Arg253His)	RABEP2 (R253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406702	NM_024816.3(RABEP2):c.757C>T (p.Arg253Cys)	RABEP2 (R253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265379	NM_024816.3(RABEP2):c.685G>A (p.Asp229Asn)	RABEP2 (D229N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550906	NM_024816.3(RABEP2):c.642C>G (p.Ser214Arg)	RABEP2 (S214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206077	NM_024816.3(RABEP2):c.635A>T (p.Glu212Val)	RABEP2 (E212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248656	NM_024816.3(RABEP2):c.566C>G (p.Ser189Cys)	RABEP2 (S189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150863	NM_024816.3(RABEP2):c.548G>A (p.Arg183His)	RABEP2 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312215	NM_024816.3(RABEP2):c.520G>C (p.Glu174Gln)	RABEP2 (E174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284635	NM_024816.3(RABEP2):c.494A>T (p.Glu165Val)	RABEP2 (E165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541408	NM_024816.3(RABEP2):c.485A>C (p.Glu162Ala)	RABEP2 (E162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203875	NM_024816.3(RABEP2):c.439G>C (p.Glu147Gln)	RABEP2 (E147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293006	NM_024816.3(RABEP2):c.370C>T (p.Arg124Cys)	RABEP2 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251390	NM_024816.3(RABEP2):c.334C>G (p.Gln112Glu)	RABEP2 (Q112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244781	NM_024816.3(RABEP2):c.315G>T (p.Lys105Asn)	RABEP2 (K105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801747	NM_024816.3(RABEP2):c.175G>A (p.Ala59Thr)	LOC130058743, RABEP2 (A59T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2529612	NM_024816.3(RABEP2):c.169A>G (p.Met57Val)	LOC130058743, RABEP2 (M57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557885	NM_024816.3(RABEP2):c.124C>G (p.Arg42Gly)	LOC130058743, RABEP2 (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557140	NM_024816.3(RABEP2):c.117G>C (p.Glu39Asp)	LOC130058743, RABEP2 (E39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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