"Baylor Genetics"[submitter] AND "SNAP29"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030838	NM_004782.4(SNAP29):c.435-3A>G	SNAP29	Single nucleotide variant (intron variant)	CEDNIK syndrome	GUncertain significance
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 625619	GRCh37/hg19 22q11.21(chr22:18912514-21922035)	AIFM3, ARVCF +50 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