"Center of Medical Genetics, Central South University"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627613	NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	HPS1 (Q603* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic
Select item 627614	NM_000195.5(HPS1):c.399-14G>A	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 627612	NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)	HPS1 (E63*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 1	GPathogenic

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