ClinVar for MedGen (Select 393784) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672247	NM_000746.6(CHRNA7):c.992C>T (p.Thr331Ile)	CHRNA7 (T331I +1 more)	Single nucleotide variant (missense variant +1 more)	Chromosome 15q13.3 microdeletion syndrome	GUncertain significance
Select item 2580334	GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1	ARHGAP11B, CHRNA7 +9 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580323	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580303	GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1	MIR211, ARHGAP11B +6 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580300	GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2574687	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2446467	GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703668	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240)	ARHGAP11A, CHRNA7 +8 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703658	GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703648	GRCh37/hg19 15q13.2-13.3(chr15:31088442-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703232	Single allele	LOC129390680, LOC130056726 +25 more	Deletion	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1330163	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 441046	GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	Gnot provided
Select item 21009	15q13.3	CHRNA7, FAN1 +5 more	Deletion	Chromosome 15q13.3 microdeletion syndrome	GPathogenic