"Baylor Genetics"[submitter] AND "CHRNA7"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560979	NM_000746.6(CHRNA7):c.241-1G>A	CHRNA7	Single nucleotide variant (splice acceptor variant)	Epilepsy, idiopathic generalized, susceptibility to, 7	Gno classifications from unflagged records
Select item 625834	GRCh37/hg19 15q13.2-13.3(chr15:30927362-32404084)	ARHGAP11B, CHRNA7 +6 more	Copy number loss	not provided	GPathogenic
Select item 625750	GRCh37/hg19 15q13.3(chr15:32067075-32514341)	CHRNA7	Copy number gain	not provided	GLikely pathogenic
Select item 625748	GRCh37/hg19 15q13.2-13.3(chr15:30927362-32929514)	ARHGAP11A, ARHGAP11B +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 625747	GRCh37/hg19 15q13.2-13.3(chr15:30654617-32445252)	CHRFAM7A, ARHGAP11B +8 more	Copy number gain	not provided	GPathogenic
Select item 625722	GRCh37/hg19 15q13.3(chr15:32077393-32513233)	CHRNA7	Copy number loss	not provided	GPathogenic
Select item 625721	GRCh37/hg19 15q13.2-13.3(chr15:31196867-32404084)	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 625720	GRCh37/hg19 15q13.2-13.3(chr15:30950529-32514341)	FAN1, CHRNA7 +5 more	Copy number loss	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