"Baylor Genetics"[submitter] AND "SCARF2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029236	NM_182895.5(SCARF2):c.1978G>T (p.Ala660Ser)	SCARF2 (A665S +1 more)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome +1 more	GUncertain significance
Select item 1029235	NM_182895.5(SCARF2):c.1907C>T (p.Ala636Val)	SCARF2 (A636V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1029234	NM_182895.5(SCARF2):c.1822A>T (p.Ser608Cys)	SCARF2 (S613C +1 more)	Single nucleotide variant (missense variant)	Van den Ende-Gupta 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 625590	GRCh37/hg19 22q11.21(chr22:18900755-21075586)	ARVCF, C22orf39 +36 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