"Baylor Genetics"[submitter] AND "SLC6A19"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031693	NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met)	SLC6A19 (T180M)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic

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