29075[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 58569	GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	APBA2, ARHGAP11B +254 more	Copy number gain	See cases	GPathogenic
Select item 58568	GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3	APBA2, ATP10A +219 more	Copy number gain	See cases	GPathogenic
Select item 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, ATP10A +218 more	Copy number gain	See cases	GPathogenic
Select item 58577	GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1	APBA2, ATP10A +197 more	Copy number loss	See cases	GPathogenic
Select item 545163	Single allele	GABRG3, GABRG3-AS1 +228 more	Duplication	Autism	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 160989	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3	APBA2, ATP10A +170 more	Copy number gain	See cases	GPathogenic
Select item 154724	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4	APBA2, ATP10A +172 more	Copy number gain	See cases	GPathogenic
Select item 150806	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	APBA2, CHRFAM7A +205 more	Copy number gain	See cases	GPathogenic
Select item 150213	GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3	APBA2, ARHGAP11B +190 more	Copy number gain	See cases	GPathogenic
Select item 149631	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 149258	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1	APBA2, ARHGAP11B +205 more	Copy number loss	See cases	GPathogenic
Select item 148557	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 148504	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4	LOC130056725, LOC132090298 +170 more	Copy number gain	See cases	GPathogenic
Select item 146726	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 146449	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 146447	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4	LOC126862086, LOC126862087 +170 more	Copy number gain	See cases	GPathogenic
Select item 59391	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 58581	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1	APBA2, ATP10A +167 more	Copy number loss	See cases	GPathogenic
Select item 57412	GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 155586	GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	APBA2, ARHGAP11B +205 more	Copy number gain	See cases	GPathogenic
Select item 155312	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4	APBA2, ATP10A +167 more	Copy number gain	See cases	GPathogenic
Select item 155159	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1	APBA2, ATP10A +166 more	Copy number loss	See cases	GPathogenic
Select item 153771	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1	APBA2, ATP10A +166 more	Copy number loss	See cases	GPathogenic
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	TRPM1, APBA2 +61 more	Copy number loss	See cases	GPathogenic
Select item 154455	GRCh38/hg38 15q13.1-13.2(chr15:28446255-30073921)x1	APBA2, ENTREP2 +17 more	Copy number loss	See cases	GUncertain significance
Select item 545174	Single allele	LOC125078051, LOC125078052 +19 more	Duplication	Autism	GLikely pathogenic
Select item 155656	GRCh38/hg38 15q13.1(chr15:28578576-29244060)x3	APBA2, ENTREP2 +3 more	Copy number gain	See cases	GLikely benign
Select item 1184308	NC_000015.10:g.28694170_30078717del	LOC129390677, LOC129390678 +14 more	Deletion	not provided	GUncertain significance
Select item 160915	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x1	APBA2, ENTREP2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 148883	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3	APBA2, ARHGAP11B +29 more	Copy number gain	See cases	GPathogenic
Select item 146201	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3	APBA2, ENTREP2 +14 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 155337	GRCh38/hg38 15q13.1-13.2(chr15:28701299-30094195)x3	APBA2, ENTREP2 +15 more	Copy number gain	See cases	GLikely benign
Select item 153279	GRCh38/hg38 15q13.1-13.2(chr15:28701299-30094195)x1	APBA2, ENTREP2 +15 more	Copy number loss	See cases	GLikely benign
Select item 149216	GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
Select item 155154	GRCh38/hg38 15q13.1-13.2(chr15:28744504-30073921)x3	APBA2, ENTREP2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 150590	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1	APBA2, ARHGAP11B +52 more	Copy number loss	See cases	GPathogenic
Select item 149574	GRCh38/hg38 15q13.1(chr15:28744504-29349007)x3	APBA2, ENTREP2 +4 more	Copy number gain	See cases	GLikely benign
Select item 149232	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
Select item 154189	GRCh38/hg38 15q13.1-13.2(chr15:28757591-30094195)x1	APBA2, ENTREP2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 57599	GRCh38/hg38 15q13.1-13.2(chr15:28819080-30361669)x3	APBA2, CHRFAM7A +17 more	Copy number gain	See cases	GUncertain significance
Select item 545175	NC_000015.10:g.(?_28821222)_(30470957_?)del	CHRFAM7A, ENTREP2 +19 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 154620	GRCh38/hg38 15q13.1-13.2(chr15:28840698-30361733)x3	APBA2, CHRFAM7A +17 more	Copy number gain	See cases	GUncertain significance
Select item 545176	Single allele	APBA2, CHRFAM7A +16 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58636	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	APBA2, ARHGAP11B +51 more	Copy number loss	See cases	GPathogenic
Select item 57600	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	APBA2, ARHGAP11A-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 146426	GRCh38/hg38 15q13.1-13.2(chr15:28961114-30073921)x1	APBA2, ENTREP2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 144260	GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	APBA2, ARHGAP11B +51 more	Copy number gain	See cases	GUncertain significance
Select item 3089198	NM_015307.2(ENTREP2):c.1597G>A (p.Ala533Thr)	ENTREP2 (A488T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089197	NM_015307.2(ENTREP2):c.1571G>A (p.Arg524His)	ENTREP2 (R524H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275576	NM_015307.2(ENTREP2):c.1547G>T (p.Arg516Leu)	ENTREP2 (R471L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089196	NM_015307.2(ENTREP2):c.1439T>C (p.Leu480Ser)	ENTREP2 (L480S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089195	NM_015307.2(ENTREP2):c.1391C>G (p.Pro464Arg)	ENTREP2 (P419R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591490	NM_015307.2(ENTREP2):c.1388G>A (p.Arg463Gln)	ENTREP2 (R367Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089194	NM_015307.2(ENTREP2):c.1387C>T (p.Arg463Trp)	ENTREP2 (R322W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275575	NM_015307.2(ENTREP2):c.1386A>T (p.Gln462His)	ENTREP2 (Q366H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089193	NM_015307.2(ENTREP2):c.1372T>C (p.Trp458Arg)	ENTREP2 (W317R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089192	NM_015307.2(ENTREP2):c.1357G>T (p.Gly453Trp)	ENTREP2 (G357W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089191	NM_015307.2(ENTREP2):c.1355C>T (p.Ala452Val)	ENTREP2 (A407V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089190	NM_015307.2(ENTREP2):c.1304C>T (p.Ala435Val)	ENTREP2 (A294V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552975	NM_015307.2(ENTREP2):c.1302C>G (p.Ser434Arg)	ENTREP2 (S338R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089189	NM_015307.2(ENTREP2):c.1273G>A (p.Ala425Thr)	ENTREP2 (A284T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275579	NM_015307.2(ENTREP2):c.1253C>G (p.Ser418Trp)	ENTREP2 (S322W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464978	NM_015307.2(ENTREP2):c.1250C>T (p.Pro417Leu)	ENTREP2 (P372L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089188	NM_015307.2(ENTREP2):c.1204A>C (p.Thr402Pro)	ENTREP2 (T357P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089187	NM_015307.2(ENTREP2):c.1187G>A (p.Arg396His)	ENTREP2 (R255H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982075	NM_015307.2(ENTREP2):c.1124_1125delinsGC (p.His375Arg)	ENTREP2 (H375R +3 more)	Indel (missense variant)	not specified	GBenign
Select item 3089186	NM_015307.2(ENTREP2):c.1117C>T (p.Pro373Ser)	ENTREP2 (P373S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645095	NM_015307.2(ENTREP2):c.1101C>A (p.Ser367=)	ENTREP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3275574	NM_015307.2(ENTREP2):c.970G>A (p.Asp324Asn)	ENTREP2 (D279N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089220	NM_015307.2(ENTREP2):c.967G>A (p.Gly323Arg)	ENTREP2 (G182R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089219	NM_015307.2(ENTREP2):c.955G>A (p.Glu319Lys)	ENTREP2 (E223K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731628	NM_015307.2(ENTREP2):c.936T>G (p.Ser312Arg)	ENTREP2 (S312R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2479866	NM_015307.2(ENTREP2):c.890C>T (p.Pro297Leu)	ENTREP2 (P201L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089218	NM_015307.2(ENTREP2):c.886C>G (p.Pro296Ala)	ENTREP2 (P296A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089217	NM_015307.2(ENTREP2):c.886C>A (p.Pro296Thr)	ENTREP2 (P155T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518247	NM_015307.2(ENTREP2):c.859G>A (p.Gly287Ser)	ENTREP2 (G191S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089216	NM_015307.2(ENTREP2):c.829A>C (p.Thr277Pro)	ENTREP2 (T181P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275577	NM_015307.2(ENTREP2):c.826G>A (p.Gly276Ser)	ENTREP2 (G180S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275578	NM_015307.2(ENTREP2):c.815C>A (p.Pro272Gln)	ENTREP2 (P176Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089215	NM_015307.2(ENTREP2):c.733C>G (p.Pro245Ala)	ENTREP2 (P245A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089214	NM_015307.2(ENTREP2):c.728C>G (p.Pro243Arg)	ENTREP2 (P102R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089213	NM_015307.2(ENTREP2):c.681C>G (p.His227Gln)	ENTREP2 (H182Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466485	NM_015307.2(ENTREP2):c.656C>T (p.Ala219Val)	ENTREP2 (A78V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089211	NM_015307.2(ENTREP2):c.638C>T (p.Pro213Leu)	ENTREP2 (P213L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089208	NM_015307.2(ENTREP2):c.616G>A (p.Asp206Asn)	ENTREP2 (D110N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089207	NM_015307.2(ENTREP2):c.607G>A (p.Val203Ile)	ENTREP2 (V107I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089206	NM_015307.2(ENTREP2):c.600G>A (p.Met200Ile)	ENTREP2 (M155I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454929	NM_015307.2(ENTREP2):c.568G>A (p.Val190Met)	ENTREP2 (V145M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089205	NM_015307.2(ENTREP2):c.536G>T (p.Ser179Ile)	ENTREP2 (S38I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089204	NM_015307.2(ENTREP2):c.482C>T (p.Pro161Leu)	ENTREP2 (P161L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089203	NM_015307.2(ENTREP2):c.460G>A (p.Gly154Arg)	ENTREP2 (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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