"Eurofins Ntd Llc (ga)"[submitter] AND "HPS6"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163680	NM_024747.6(HPS6):c.99A>G (p.Arg33=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6 +2 more	GBenign
Select item 286495	NM_024747.6(HPS6):c.105T>C (p.Arg35=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 595731	NM_024747.6(HPS6):c.283del (p.Val95fs)	HPS6, LOC130004578 (V95fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 282566	NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)	HPS6 (R113W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 284200	NM_024747.6(HPS6):c.444C>G (p.Ala148=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 163683	NM_024747.6(HPS6):c.516G>A (p.Gly172=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 211155	NM_024747.6(HPS6):c.698T>G (p.Leu233Arg)	HPS6 (L233R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 502686	NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)	HPS6 (H354Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 282222	NM_024747.6(HPS6):c.1779G>A (p.Pro593=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 594577	NM_024747.6(HPS6):c.1864_1871del (p.Leu622fs)	HPS6 (L622fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 261764	NM_024747.6(HPS6):c.2250G>A (p.Ser750=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity