ClinVar for MedGen (Select 164210) - ClinVar - NCBI

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Items: 15

	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 1098307	NM_000477.7(ALB):c.102_108del	ALB	Deletion (3 prime UTR variant)	Analbuminemia	GPathogenic
Select item 636260	NM_000477.7(ALB):c.1098dup (p.Val367fs)	ALB (V367fs)	Duplication (frameshift variant)	Analbuminemia	GPathogenic
Select item 156324	NM_000477.7(ALB):c.802G>T (p.Glu268Ter)	ALB (E268*)	Single nucleotide variant (nonsense)	Analbuminemia	Gnot provided
Select item 156323	NM_000477.7(ALB):c.714G>A (p.Trp238Ter)	ALB (W238*)	Single nucleotide variant (nonsense)	Analbuminemia	GPathogenic
Select item 156322	NM_000477.7(ALB):c.597T>A (p.Ala199=)	ALB	Single nucleotide variant (synonymous variant)	Analbuminemia	Gnot provided
Select item 156320	NM_000477.7(ALB):c.412C>T (p.Arg138Ter)	ALB (R138*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 156319	NM_000477.7(ALB):c.228_229del (p.Val78fs)	ALB (V78fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 156314	NM_000477.7(ALB):c.166C>T (p.Gln56Ter)	ALB (Q56*)	Single nucleotide variant (nonsense)	Analbuminemia	GPathogenic
Select item 156313	NM_000477.7(ALB):c.1669G>A (p.Val557Met)	ALB (V557M)	Single nucleotide variant (missense variant)	Analbuminemia	GUncertain significance
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 156309	NM_000477.7(ALB):c.1275C>A (p.Tyr425Ter)	ALB (Y425*)	Single nucleotide variant (nonsense)	Analbuminemia	Gnot provided
Select item 18224	NM_000477.7(ALB):c.872dup (p.Asn291fs)	ALB (N291fs)	Duplication (frameshift variant)	Analbuminemia	GPathogenic
Select item 18210	NM_000477.7(ALB):c.714-2A>G	ALB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic