"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 947934	NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)	AP3B1 (T1028I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 836276	NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)	AP3B1 (M1056I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2 +1 more	GUncertain significance
Select item 226459	NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)	AP3B1 (A1008del +1 more)	Microsatellite (inframe_deletion)	Hermansky-Pudlak syndrome +4 more	GBenign/Likely benign
Select item 195962	NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)	AP3B1 (V999M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 1694164	NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val)	AP3B1 (E941V +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694159	NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter)	AP3B1 (E941* +1 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome	GUncertain significance
Select item 464884	NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)	AP3B1 (N972S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome +4 more	GConflicting classifications of pathogenicity
Select item 354223	NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome +3 more	GConflicting classifications of pathogenicity
Select item 354224	NM_003664.5(AP3B1):c.2810-4C>T	AP3B1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
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 434220	NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)	AP3B1 (T862I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 179635	NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)	AP3B1 (K804del +1 more)	Deletion (inframe_deletion)	Hermansky-Pudlak syndrome +4 more	GBenign/Likely benign
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 533472	NM_003664.5(AP3B1):c.2112C>T (p.Gly704=)	AP3B1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 235303	NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)	AP3B1 (E681G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 354234	NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)	AP3B1 (P662A +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
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 1694128	NM_003664.5(AP3B1):c.1688A>C (p.Lys563Thr)	AP3B1 (K514T +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 178703	NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome +4 more	GBenign/Likely benign
Select item 178704	NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1694118	NM_003664.5(AP3B1):c.1230+7G>A	AP3B1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 434221	NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)	AP3B1 (A400P +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1169673	NM_003664.5(AP3B1):c.1186T>C (p.Leu396=)	AP3B1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GBenign/Likely benign
Select item 354242	NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)	AP3B1	Single nucleotide variant (synonymous variant)	not provided +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
Select item 1642910	NM_003664.5(AP3B1):c.1020G>A (p.Val340=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 533471	NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)	AP3B1 (P290L +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2 +1 more	GUncertain significance
Select item 1694191	NM_003664.5(AP3B1):c.853G>A (p.Asp285Asn)	AP3B1 (D236N +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 354246	NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 226461	NM_003664.5(AP3B1):c.687A>G (p.Leu229=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +3 more	GBenign/Likely benign
Select item 259119	NM_003664.5(AP3B1):c.402C>T (p.Ser134=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +2 more	GBenign/Likely benign
Select item 226460	NM_003664.5(AP3B1):c.339A>C (p.Ala113=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 354252	NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 224763	NM_003664.5(AP3B1):c.177del (p.Lys59fs)	AP3B1 (K59fs +1 more)	Deletion (frameshift variant)	Autoinflammatory syndrome +1 more	GPathogenic

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Items: 37