"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ALB"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 349622	NM_000477.7(ALB):c.616-3T>C	ALB	Single nucleotide variant (intron variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GBenign
Select item 349629	NM_000477.7(ALB):c.1230T>C (p.Asn410=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GBenign/Likely benign
Select item 349632	NM_000477.7(ALB):c.1434C>T (p.Ser478=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic

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