"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CD36"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299074	NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)	CD36 (N117fs +2 more)	Duplication (frameshift variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810108	NM_001001548.3(CD36):c.550G>A (p.Asp184Asn)	CD36 (D150N +3 more)	Single nucleotide variant (missense variant +2 more)	CD36-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 632010	NM_001001548.3(CD36):c.609+1G>A	CD36	Single nucleotide variant (splice donor variant +1 more)	CD36-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 360761	NM_001001548.3(CD36):c.649G>A (p.Gly217Arg)	CD36 (G217R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 810109	NM_001001548.3(CD36):c.660_664del (p.Asn220fs)	CD36 (N65fs +4 more)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 1299075	NM_001001548.3(CD36):c.660_669del (p.Asn220fs)	CD36 (N144fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908990	NM_001001548.3(CD36):c.846C>T (p.Asp282=)	CD36	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908993	NM_001001548.3(CD36):c.879T>C (p.Phe293=)	CD36	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632507	NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)	CD36 (L360* +5 more)	Single nucleotide variant (nonsense +1 more)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 1013550	NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter)	CD36 (Q227* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 360770	NM_001001548.3(CD36):c.1279G>T (p.Ala427Ser)	CD36 (A427S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2657636	NM_001001548.3(CD36):c.1418A>C (p.Ter473Ser)	CD36	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance