CHRFAM7A[gene] - 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 545163	Single allele	GABRG3, GABRG3-AS1 +228 more	Duplication	Autism	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 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 148504	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4	LOC130056725, LOC132090298 +170 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 146447	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4	LOC126862086, LOC126862087 +170 more	Copy number gain	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 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 148883	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3	APBA2, ARHGAP11B +29 more	Copy number gain	See cases	GPathogenic
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 150590	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1	APBA2, ARHGAP11B +52 more	Copy number loss	See cases	GPathogenic
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 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 144260	GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	APBA2, ARHGAP11B +51 more	Copy number gain	See cases	GUncertain significance
Select item 157338	Single allele	ARHGAP11B, ARHGAP11B-DT +13 more	Deletion	Preeclampsia	Gnot provided
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 1338827	GRCh38/hg38 15q13.2(chr15:30097840-30527284)	CHRFAM7A, GOLGA8R +3 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 58650	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1	ARHGAP11A-DT, ARHGAP11B +43 more	Copy number loss	See cases	GPathogenic
Select item 57602	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3	ARHGAP11B, ARHGAP11B-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 147133	GRCh38/hg38 15q13.2(chr15:30197607-30491441)x1	CHRFAM7A, GOLGA8R +2 more	Copy number loss	See cases	GBenign
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 147838	GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GPathogenic
Select item 545177	NC_000015.10:g.(?_30325774)_(32194551_?)del	ARHGAP11B, ARHGAP11B-DT +34 more	Deletion	Schizophrenia	GPathogenic
Select item 149493	GRCh38/hg38 15q13.2(chr15:30361656-30785793)x3	ARHGAP11B, ARHGAP11B-DT +10 more	Copy number gain	See cases	GLikely benign
Select item 146727	GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3	ARHGAP11B, ARHGAP11B-DT +34 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 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 148191	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1	LOC128899999, LOC129390679 +43 more	Copy number loss	See cases	GPathogenic
Select item 148179	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3	ARHGAP11B, ARHGAP11B-DT +36 more	Copy number gain	See cases	GPathogenic
Select item 147433	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1	FAN1, ARHGAP11B +38 more	Copy number loss	See cases	GPathogenic
Select item 146512	GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3	ARHGAP11B, ARHGAP11B-DT +29 more	Copy number gain	See cases	GPathogenic
Select item 146427	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GUncertain significance
Select item 58654	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number loss	See cases	GPathogenic
Select item 58653	GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1	FAN1, ARHGAP11B +25 more	Copy number loss	See cases	GPathogenic
Select item 57845	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1	ARHGAP11A, ARHGAP11A-DT +43 more	Copy number loss	See cases	GPathogenic
Select item 57604	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GUncertain significance
Select item 32396	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number gain	See cases	Gconflicting data from submitters
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 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 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 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 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 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 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 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 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 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 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 730496	NM_139320.2(CHRFAM7A):c.384T>C (p.Pro128=)	CHRFAM7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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	ARHGAP11B, CHRFAM7A +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 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 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 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

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