"Baylor Genetics"[submitter] AND "GP1BB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034192	NM_000407.5(GP1BB):c.215C>T (p.Pro72Leu)	GP1BB, SEPT5-GP1BB (P72L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 625739	GRCh37/hg19 22q11.21(chr22:18900755-21800277)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625684	GRCh37/hg19 22q11.21(chr22:18892575-21460220)	AIFM3, ARVCF +45 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625681	GRCh37/hg19 22q11.21(chr22:18912514-21431174)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625679	GRCh37/hg19 22q11.21(chr22:18892575-21460220)	AIFM3, ARVCF +45 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625625	GRCh37/hg19 22q11.21(chr22:18912870-21431174)	AIFM3, ARVCF +44 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625622	GRCh37/hg19 22q11.21(chr22:18923898-21431174)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625621	GRCh37/hg19 22q11.21(chr22:18912403-21431174)	AIFM3, ARVCF +44 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625620	GRCh37/hg19 22q11.21(chr22:18918741-20311922)	ARVCF, C22orf39 +26 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625619	GRCh37/hg19 22q11.21(chr22:18912514-21922035)	AIFM3, ARVCF +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625590	GRCh37/hg19 22q11.21(chr22:18900755-21075586)	ARVCF, C22orf39 +36 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625589	GRCh37/hg19 22q11.21(chr22:18892575-20308800)	ARVCF, C22orf39 +27 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625588	GRCh37/hg19 22q11.21(chr22:18892575-21460220)	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625587	GRCh37/hg19 22q11.21(chr22:18650803-21386010)	AIFM3, ARVCF +46 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625586	GRCh37/hg19 22q11.21(chr22:18901004-21408430)	COMT, CRKL +44 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 625585	GRCh37/hg19 22q11.21(chr22:18650803-21460220)	AIFM3, ARVCF +46 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625584	GRCh37/hg19 22q11.21(chr22:18650745-21460220)	AIFM3, ARVCF +46 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625583	GRCh37/hg19 22q11.21(chr22:18611223-21408430)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625582	GRCh37/hg19 22q11.21(chr22:18609712-21408430)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21