"GeneDx"[submitter] AND "HPS6"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1234088	NC_000010.11:g.102065163C>T	HPS6, LOC130004578	Single nucleotide variant	not provided	GBenign
Select item 1234658	NC_000010.11:g.102065312G>A	HPS6, LOC130004578	Single nucleotide variant	not provided	GBenign
Select item 1452276	NM_024747.6(HPS6):c.60_64dup (p.Leu22fs)	HPS6, LOC130004578 (L22fs)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 208586	NM_024747.6(HPS6):c.238dup (p.Asp80fs)	HPS6, LOC130004578 (D80fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
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 163683	NM_024747.6(HPS6):c.516G>A (p.Gly172=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 627122	NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)	HPS6 (P231R)	Single nucleotide variant (missense variant)	HPS6-related disorder +3 more	GUncertain significance
Select item 877676	NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)	HPS6 (E677K)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +2 more	GConflicting classifications of pathogenicity
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
Select item 1524471	NM_024747.6(HPS6):c.2260C>G (p.Leu754Val)	HPS6 (L754V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 261761	NM_024747.6(HPS6):c.*178T>G	HPS6	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic