"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 354220	NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GConflicting classifications of pathogenicity
Select item 286838	NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 210189	NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)	AP3B1 (F887L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 210188	NM_003664.5(AP3B1):c.2613C>T (p.His871=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 354229	NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GConflicting classifications of pathogenicity
Select item 354230	NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)	AP3B1 (I775K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 354235	NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +3 more	GBenign/Likely benign
Select item 354243	NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)	AP3B1 (I357V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 464882	NM_003664.5(AP3B1):c.1040+9T>A	AP3B1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign