ClinVar for Gene (Select 89832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267135	NM_139320.2(CHRFAM7A):c.500A>G (p.Asp167Gly)	CHRFAM7A (D167G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267134	NM_139320.2(CHRFAM7A):c.665T>C (p.Val222Ala)	CHRFAM7A (V131A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144578	NM_139320.2(CHRFAM7A):c.703G>A (p.Gly235Ser)	CHRFAM7A (G144S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144577	NM_139320.2(CHRFAM7A):c.344G>C (p.Arg115Thr)	CHRFAM7A (R115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144576	NM_139320.2(CHRFAM7A):c.169A>G (p.Lys57Glu)	CHRFAM7A (K57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	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 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2672599	GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1	FAN1, ARHGAP11B +8 more	Copy number loss	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2615554	NM_139320.2(CHRFAM7A):c.462C>G (p.Ile154Met)	CHRFAM7A (I154M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484311	NM_139320.2(CHRFAM7A):c.974C>T (p.Thr325Met)	CHRFAM7A (T234M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391467	NM_139320.2(CHRFAM7A):c.1196C>T (p.Ser399Leu)	CHRFAM7A (S308L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373344	NM_139320.2(CHRFAM7A):c.538C>T (p.Leu180Phe)	CHRFAM7A (L180F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302011	NM_139320.2(CHRFAM7A):c.575T>C (p.Ile192Thr)	CHRFAM7A (I101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294343	NM_139320.2(CHRFAM7A):c.536T>C (p.Leu179Ser)	CHRFAM7A (L179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286136	NM_139320.2(CHRFAM7A):c.871A>G (p.Asn291Asp)	CHRFAM7A (N291D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282877	NM_139320.2(CHRFAM7A):c.1084G>A (p.Glu362Lys)	CHRFAM7A (E362K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244333	NM_139320.2(CHRFAM7A):c.317G>C (p.Trp106Ser)	CHRFAM7A (W15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808704	GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	not provided	GPathogenic
Select item 1807850	GRCh37/hg19 15q13.2-13.3(chr15:30370018-32446830)x1	ARHGAP11B, CHRFAM7A +9 more	Copy number loss	not provided	GPathogenic
Select item 1707445	GRCh37/hg19 15q13.1-13.2(chr15:30026120-31073669)x4	ARHGAP11B, CHRFAM7A +3 more	Copy number gain	See cases	GPathogenic
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1684563	GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1	APBA2, ARHGAP11B +15 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 1340490	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444113)x3	MTMR10, OTUD7A +8 more	Copy number gain	not provided	GUncertain significance
Select item 1340050	GRCh37/hg19 15q13.1-13.2(chr15:28394664-31122895)x1	APBA2, ARHGAP11B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1338827	GRCh38/hg38 15q13.2(chr15:30097840-30527284)	CHRFAM7A, GOLGA8R +3 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 997069	GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943)	ARHGAP11B, CHRFAM7A +8 more	Copy number gain	Intellectual disability	GPathogenic
Select item 979417	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32915089)x3	CHRFAM7A, ARHGAP11A +11 more	Copy number gain	not provided	GUncertain significance
Select item 979416	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32051707)x3	ARHGAP11B, CHRFAM7A +7 more	Copy number gain	not provided	GUncertain significance
Select item 979415	GRCh37/hg19 15q13.2-13.3(chr15:30374368-32446830)x1	ARHGAP11B, CHRFAM7A +9 more	Copy number loss	not provided	GPathogenic
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 979413	GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1	FAN1, MTMR10 +14 more	Copy number loss	not provided	GPathogenic
Select item 929340	GRCh37/hg19 15q13.1-13.3(chr15:28962131-32620127)x1	APBA2, ARHGAP11B +14 more	Copy number loss	See cases	GPathogenic
Select item 816503	GRCh37/hg19 15q13.1-13.2(chr15:28962131-30737344)x1	APBA2, CHRFAM7A +5 more	Copy number loss	See cases	GUncertain significance
Select item 815694	GRCh37/hg19 15q13.1-13.3(chr15:29268247-32446830)x1	APBA2, ARHGAP11B +13 more	Copy number loss	not provided	GPathogenic
Select item 815693	GRCh37/hg19 15q13.1-13.3(chr15:28946433-32446830)x1	APBA2, FAN1 +14 more	Copy number loss	not provided	GPathogenic
Select item 815688	GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1	CHRFAM7A, GOLGA8M +38 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815686	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4	ENTREP2, APBA2 +45 more	Copy number gain	not provided	GPathogenic
Select item 730496	NM_139320.2(CHRFAM7A):c.384T>C (p.Pro128=)	CHRFAM7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	APBA2, ARHGAP11A +52 more	Copy number gain	not provided	GPathogenic
Select item 638127	GRCh37/hg19 15q13.2-13.3(chr15:30611102-32514341)x1	ARHGAP11B, CHRFAM7A +8 more	Copy number loss	See cases	GPathogenic
Select item 635876	Single allele	ARHGAP11A, ARHGAP11B +11 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625747	GRCh37/hg19 15q13.2-13.3(chr15:30654617-32445252)	CHRFAM7A, ARHGAP11B +8 more	Copy number gain	not provided	GPathogenic
Select item 625719	GRCh37/hg19 15q13.1-13.3(chr15:29276878-32404084)	APBA2, ARHGAP11B +13 more	Copy number loss	not provided	GPathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 564177	GRCh37/hg19 15q13.2-13.3(chr15:30386552-32444044)x3	ARHGAP11B, CHRFAM7A +8 more	Copy number gain	not provided	GUncertain significance
Select item 564176	GRCh37/hg19 15q13.1-13.3(chr15:29382884-32192467)x1	APBA2, ARHGAP11B +12 more	Copy number loss	not provided	GPathogenic
Select item 564175	GRCh37/hg19 15q13.1-13.3(chr15:29235104-32446830)x1	APBA2, ARHGAP11B +13 more	Copy number loss	not provided	GPathogenic
Select item 564172	GRCh37/hg19 15q13.1-13.3(chr15:28968634-32444044)x3	APBA2, ARHGAP11B +14 more	Copy number gain	not provided	GUncertain significance
Select item 564171	GRCh37/hg19 15q13.1-13.2(chr15:28968634-31073669)x3	APBA2, ARHGAP11B +7 more	Copy number gain	not provided	GUncertain significance
Select item 564168	GRCh37/hg19 15q13.1-13.2(chr15:28376935-31108698)x3	APBA2, ARHGAP11B +8 more	Copy number gain	not provided	GPathogenic
Select item 564150	GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4	APBA2, ARHGAP11A +47 more	Copy number gain	not provided	GPathogenic
Select item 564149	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4	APBA2, ARHGAP11B +42 more	Copy number gain	not provided	GPathogenic
Select item 564148	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3	APBA2, ARHGAP11B +42 more	Copy number gain	not provided	GPathogenic
Select item 564147	GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4	APBA2, ARHGAP11B +35 more	Copy number gain	not provided	GPathogenic
Select item 545177	NC_000015.10:g.(?_30325774)_(32194551_?)del	ARHGAP11B, ARHGAP11B-DT +34 more	Deletion	Schizophrenia	GPathogenic
Select item 545176	Single allele	APBA2, CHRFAM7A +16 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545175	NC_000015.10:g.(?_28821222)_(30470957_?)del	CHRFAM7A, ENTREP2 +19 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545163	Single allele	GABRG3, GABRG3-AS1 +228 more	Duplication	Autism	GPathogenic
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 443127	GRCh37/hg19 15q13.1-13.3(chr15:28547475-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	See cases	GPathogenic
Select item 443007	GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3	APBA2, ARHGAP11A +25 more	Copy number gain	See cases	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442358	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32446830)x3	ARHGAP11B, CHRFAM7A +8 more	Copy number gain	See cases	GPathogenic
Select item 442097	GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4	APBA2, ENTREP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 402122	GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4	APBA2, ATP10A +39 more	Copy number gain	See cases	GPathogenic
Select item 395227	GRCh37/hg19 15q13.1-13.3(chr15:29214105-32418220)x1	APBA2, FAN1 +13 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394315	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4	GABRA5, IPW +51 more	Copy number gain	See cases	GPathogenic
Select item 253558	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4	APBA2, ARHGAP11A +51 more	Copy number gain	See cases	GPathogenic
Select item 253536	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4	APBA2, ARHGAP11B +48 more	Copy number gain	See cases	GPathogenic
Select item 253412	GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3	APBA2, ARHGAP11B +21 more	Copy number gain	See cases	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 160928	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number gain	See cases	GUncertain significance
Select item 160914	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number loss	See cases	GPathogenic
Select item 160801	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1	ARHGAP11A-DT, FAN1 +41 more	Copy number loss	See cases	GPathogenic
Select item 157338	Single allele	ARHGAP11B, ARHGAP11B-DT +13 more	Deletion	Preeclampsia	Gnot provided
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 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	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 154620	GRCh38/hg38 15q13.1-13.2(chr15:28840698-30361733)x3	APBA2, CHRFAM7A +17 more	Copy number gain	See cases	GUncertain significance
Select item 154602	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3	ARHGAP11B, ARHGAP11B-DT +38 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 153169	GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3	ARHGAP11B, ARHGAP11B-DT +37 more	Copy number gain	See cases	GUncertain significance
Select item 152983	GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number loss	See cases	GPathogenic
Select item 152978	GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number loss	See cases	GPathogenic
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 150806	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	APBA2, CHRFAM7A +205 more	Copy number gain	See cases	GPathogenic

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