"Eurofins Ntd Llc (ga)"[submitter] AND "LOC130004578"[gene] - ClinVar

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	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

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