"PreventionGenetics, part of Exact Sciences"[submitter] AND "HPS1"[gen - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255497	NM_000195.5(HPS1):c.*12C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 298334	NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)	HPS1 (R689W +6 more)	Single nucleotide variant (missense variant)	HPS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1153811	NM_000195.5(HPS1):c.2052C>A (p.Ala684=)	HPS1	Single nucleotide variant (synonymous variant)	HPS1-related disorder +1 more	GLikely benign
Select item 211148	NM_000195.5(HPS1):c.2052C>T (p.Ala684=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 878510	NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys)	HPS1 (R531C +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 763960	NM_000195.5(HPS1):c.1940+10C>T	HPS1	Single nucleotide variant (intron variant)	HPS1-related disorder +1 more	GLikely benign
Select item 1355628	NM_000195.5(HPS1):c.1940+2T>C	HPS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 298337	NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)	HPS1 (G643E +6 more)	Single nucleotide variant (missense variant)	HPS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 289062	NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser)	HPS1 (G639S +6 more)	Single nucleotide variant (missense variant)	HPS1-related disorder +2 more	GUncertain significance
Select item 21100	NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)	HPS1 (V630I +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 298338	NM_000195.5(HPS1):c.1887C>T (p.Pro629=)	HPS1	Single nucleotide variant (synonymous variant)	HPS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1672735	NM_000195.5(HPS1):c.1858-5C>T	HPS1	Single nucleotide variant (intron variant)	HPS1-related disorder +1 more	GLikely benign
Select item 627174	NM_000195.5(HPS1):c.1857+2T>C	HPS1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 21099	NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)	HPS1 (Q603R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 194700	NM_000195.5(HPS1):c.1698G>A (p.Ser566=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign/Likely benign
Select item 167183	NM_000195.5(HPS1):c.1683C>T (p.Cys561=)	HPS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 255502	NM_000195.5(HPS1):c.1599-7C>A	HPS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 167184	NM_000195.5(HPS1):c.1599-15A>G	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 498642	NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)	HPS1 (I529V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255501	NM_000195.5(HPS1):c.1527C>G (p.Leu509=)	HPS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 21094	NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)	HPS1 (P491R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 716161	NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)	HPS1 (Q145R +6 more)	Single nucleotide variant (missense variant)	HPS1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 255500	NM_000195.5(HPS1):c.1397+7_1397+8delinsCT	HPS1	Indel (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 163664	NM_000195.5(HPS1):c.1397+8G>T	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 163665	NM_000195.5(HPS1):c.1397+7G>C	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255499	NM_000195.5(HPS1):c.1335+48G>A	HPS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255498	NM_000195.5(HPS1):c.1167G>A (p.Ala389=)	HPS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2091120	NM_000195.5(HPS1):c.1131C>T (p.Gly377=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1169131	NM_000195.5(HPS1):c.1057C>T (p.Leu353=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 255506	NM_000195.5(HPS1):c.987+13T>C	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 298343	NM_000195.5(HPS1):c.952C>G (p.Leu318Val)	HPS1 (L318V +5 more)	Single nucleotide variant (missense variant +1 more)	HPS1-related disorder +2 more	GBenign/Likely benign
Select item 3039122	NM_000195.5(HPS1):c.937+55G>A	HPS1 (A259T +1 more)	Single nucleotide variant (missense variant +2 more)	HPS1-related disorder	GLikely benign
Select item 990842	NM_000195.5(HPS1):c.924C>T (p.Gly308=)	HPS1 (A236V +1 more)	Single nucleotide variant (synonymous variant +2 more)	HPS1-related disorder	GUncertain significance
Select item 713756	NM_000195.5(HPS1):c.847G>A (p.Gly283Arg)	HPS1 (G160R +2 more)	Single nucleotide variant (missense variant +3 more)	HPS1-related disorder +1 more	GLikely benign
Select item 21108	NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)	HPS1 (G283W +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign
Select item 298344	NM_000195.5(HPS1):c.808G>A (p.Val270Met)	HPS1 (V270M +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GUncertain significance
Select item 298345	NM_000195.5(HPS1):c.695C>T (p.Ala232Val)	HPS1 (A232V +3 more)	Single nucleotide variant (missense variant +1 more)	HPS1-related disorder +4 more	GUncertain significance
Select item 716162	NM_000195.5(HPS1):c.680G>T (p.Ser227Ile)	HPS1 (A188S +3 more)	Single nucleotide variant (missense variant +1 more)	HPS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 498409	NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)	HPS1 (S104V +2 more)	Indel (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 255505	NM_000195.5(HPS1):c.678C>T (p.Ala226=)	HPS1 (P187L)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 255504	NM_000195.5(HPS1):c.669-17T>C	HPS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 167185	NM_000195.5(HPS1):c.636C>T (p.Leu212=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 1444631	NM_000195.5(HPS1):c.598G>A (p.Glu200Lys)	HPS1 (E77K +1 more)	Single nucleotide variant (missense variant +2 more)	HPS1-related disorder +2 more	GUncertain significance
Select item 167186	NM_000195.5(HPS1):c.597C>T (p.Pro199=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 752245	NM_000195.5(HPS1):c.447C>T (p.Phe149=)	HPS1 (P102S)	Single nucleotide variant (synonymous variant +2 more)	HPS1-related disorder +1 more	GLikely benign
Select item 255503	NM_000195.5(HPS1):c.399-35G>A	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 163666	NM_000195.5(HPS1):c.297C>T (p.Thr99=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 435451	NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	HPS1 (N78fs +1 more)	Deletion (frameshift variant +1 more)	HPS1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 298355	NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)	HPS1 (P41L)	Single nucleotide variant (missense variant +1 more)	HPS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 717163	NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)	HPS1 (R27Q)	Single nucleotide variant (missense variant +1 more)	HPS1-related disorder +2 more	GLikely benign
Select item 163667	NM_000195.5(HPS1):c.11T>C (p.Val4Ala)	HPS1 (V4A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 991844	NM_000195.5(HPS1):c.9C>T (p.Cys3=)	HPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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Items: 52