"Genome-Nilou Lab"[submitter] AND "HPS3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902241	NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)	HPS3 (P131L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 178776	NM_032383.5(HPS3):c.970+7A>G	HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 178777	NM_032383.5(HPS3):c.981A>G (p.Thr327=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1185216	NM_032383.5(HPS3):c.1163+62T>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185217	NM_032383.5(HPS3):c.1164-139A>C	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262023	NM_032383.5(HPS3):c.1164-25C>T	HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 178778	NM_032383.5(HPS3):c.1479G>A (p.Thr493=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 163668	NM_032383.5(HPS3):c.1494G>A (p.Gln498=)	HPS3	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 1185218	NM_032383.5(HPS3):c.1692-192T>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 226653	NM_032383.5(HPS3):c.2055G>A (p.Leu685=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1185219	NM_032383.5(HPS3):c.2107-57A>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185220	NM_032383.5(HPS3):c.2107-52A>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 262024	NM_032383.5(HPS3):c.2796+50C>T	CP, HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 1185221	NM_032383.5(HPS3):c.2887+81G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign