"Baylor Genetics"[submitter] AND "SLC25A1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030984	NM_005984.5(SLC25A1):c.928A>G (p.Thr310Ala)	SLC25A1 (T317A +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria	GUncertain significance
Select item 1034233	NM_005984.5(SLC25A1):c.889T>C (p.Tyr297His)	SLC25A1 (Y297H +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria	GUncertain significance
Select item 1034232	NM_005984.5(SLC25A1):c.638A>G (p.Asn213Ser)	SLC25A1 (N220S +2 more)	Single nucleotide variant (missense variant +1 more)	2-hydroxyglutaric aciduria +1 more	GUncertain significance
Select item 42198	NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	SLC25A1 (R180fs +2 more)	Deletion (frameshift variant +1 more)	D,L-2-hydroxyglutaric aciduria +2 more	GPathogenic/Likely pathogenic
Select item 1034231	NM_005984.5(SLC25A1):c.392C>T (p.Ala131Val)	SLC25A1 (A28V +2 more)	Single nucleotide variant (missense variant)	2-hydroxyglutaric aciduria	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

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Items: 25