Related gene-specific medical variations for Gene (Select 213) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442164	NM_000477.7(ALB):c.656_659del (p.Lys219fs)	ALB (K219fs)	Deletion (frameshift variant)	Analbuminemia	GLikely pathogenic
Select item 904660	NM_000477.7(ALB):c.-13C>T	ALB, LOC111832671	Single nucleotide variant (5 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GLikely benign
Select item 156324	NM_000477.7(ALB):c.802G>T (p.Glu268Ter)	ALB (E268*)	Single nucleotide variant (nonsense)	Analbuminemia	Gnot provided
Select item 156322	NM_000477.7(ALB):c.597T>A (p.Ala199=)	ALB	Single nucleotide variant (synonymous variant)	Analbuminemia	Gnot provided
Select item 156321	NM_000477.7(ALB):c.437T>A (p.Val146Glu)	ALB (V146E)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156318	NM_000477.7(ALB):c.1794dup (p.Leu599fs)	ALB (L599fs)	Duplication (frameshift variant)	Alloalbuminemia	Gnot provided
Select item 156317	NM_000477.7(ALB):c.1786-15T>A	ALB	Single nucleotide variant (intron variant)	Alloalbuminemia	Gnot provided
Select item 156316	NM_000477.7(ALB):c.1750A>G (p.Lys584Glu)	ALB (K584E)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156315	NM_000477.7(ALB):c.1721A>C (p.Asp574Ala)	ALB (D574A)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156312	NM_000477.7(ALB):c.1610del (p.Ile537fs)	ALB (I537fs)	Deletion (frameshift variant)	Analbuminemia	Gnot provided
Select item 156311	NM_000477.7(ALB):c.1428+2T>C	ALB	Single nucleotide variant (splice donor variant)	Analbuminemia	Gnot provided
Select item 156310	NM_000477.7(ALB):c.1300C>T (p.Arg434Cys)	ALB (R434C)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156309	NM_000477.7(ALB):c.1275C>A (p.Tyr425Ter)	ALB (Y425*)	Single nucleotide variant (nonsense)	Analbuminemia	Gnot provided
Select item 156308	NM_000477.7(ALB):c.1195G>C (p.Asp399His)	ALB (D399H)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156307	NM_000477.7(ALB):c.1013A>T (p.Asp338Val)	ALB (D338V)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156306	NM_000477.7(ALB):c.1013A>G (p.Asp338Gly)	ALB (D338G)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 18193	NM_000477.7(ALB):c.1030G>A (p.Ala344Thr)	ALB (A344T)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant