"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HPS1"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990173	NM_000195.5(HPS1):c.2087G>A (p.Arg696His)	HPS1 (R372H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695378	NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys)	HPS1 (R372C +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 990174	NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys)	HPS1 (R366C +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1049595	NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)	HPS1 (S349P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 990175	NM_000195.5(HPS1):c.1977C>T (p.Thr659=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely 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 1309349	NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn)	HPS1 (D309N +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1136706	NM_000195.5(HPS1):c.1860G>A (p.Gly620=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +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 627613	NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	HPS1 (Q603* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic
Select item 990831	NM_000195.5(HPS1):c.1796C>T (p.Thr599Met)	HPS1 (T275M +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1063997	NM_000195.5(HPS1):c.1766C>T (p.Ala589Val)	HPS1 (A265V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21097	NM_000195.5(HPS1):c.1744-2A>C	HPS1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1410206	NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu)	HPS1 (P540L +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 1336113	NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg)	HPS1 (P249R +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 1419463	NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu)	HPS1 (S242L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1624644	NM_000195.5(HPS1):c.1598+11G>A	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 751439	NM_000195.5(HPS1):c.1545G>A (p.Thr515=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1099421	NM_000195.5(HPS1):c.1533-6C>T	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1598417	NM_000195.5(HPS1):c.1533-16G>A	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1663992	NM_000195.5(HPS1):c.1533-17C>T	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1639471	NM_000195.5(HPS1):c.1532+14G>A	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1564562	NM_000195.5(HPS1):c.1532+13C>T	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 5277	NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	HPS1 (H341fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1 +3 more	GPathogenic
Select item 1338329	NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)	HPS1 (I157fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 990835	NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln)	HPS1 (R159Q +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 1426340	NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)	HPS1 (R476P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1147627	NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)	HPS1 (A146V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 766659	NM_000195.5(HPS1):c.1398-9C>T	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1102527	NM_000195.5(HPS1):c.1383C>T (p.Pro461=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 727617	NM_000195.5(HPS1):c.1341C>G (p.Thr447=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1311057	NM_000195.5(HPS1):c.1294A>T (p.Met432Leu)	HPS1 (M108L +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1082298	NM_000195.5(HPS1):c.1245C>T (p.Pro415=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1084199	NM_000195.5(HPS1):c.1239G>A (p.Pro413=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 21091	NM_000195.5(HPS1):c.1189del (p.Gln397fs)	HPS1 (Q241fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 740750	NM_000195.5(HPS1):c.1164C>T (p.Ser388=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1386757	NM_000195.5(HPS1):c.1118C>A (p.Pro373His)	HPS1 (P217H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 282758	NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr)	HPS1 (N356T +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1358736	NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser)	HPS1 (R194S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5280	NM_000195.5(HPS1):c.972del (p.Met325fs)	HPS1 (M202fs +5 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 990840	NM_000195.5(HPS1):c.970C>G (p.Pro324Ala)	HPS1 (P168A +5 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 502462	NM_000195.5(HPS1):c.961G>T (p.Gly321Cys)	HPS1 (G321C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1010049	NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)	HPS1 (S158G +5 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 1134391	NM_000195.5(HPS1):c.909A>G (p.Pro303=)	HPS1 (Q231R +1 more)	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1557850	NM_000195.5(HPS1):c.867+11T>C	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1188296	NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)	HPS1 (G160R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
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 1179029	NM_000195.5(HPS1):c.780dup (p.Arg261fs)	HPS1 (G222fs +3 more)	Duplication (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic/Likely pathogenic
Select item 1063283	NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)	HPS1 (P136L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1306248	NM_000195.5(HPS1):c.760G>A (p.Asp254Asn)	HPS1 (D131N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 877529	NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)	HPS1 (E161K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1507519	NM_000195.5(HPS1):c.699C>A (p.Asp233Glu)	HPS1 (D110E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 298346	NM_000195.5(HPS1):c.692C>T (p.Pro231Leu)	HPS1 (P231L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1093167	NM_000195.5(HPS1):c.570C>T (p.His190=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1107311	NM_000195.5(HPS1):c.507+15C>T	HPS1 (R127W)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 1637661	NM_000195.5(HPS1):c.507+14G>A	HPS1 (R174H)	Single nucleotide variant (5 prime UTR variant +3 more)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1651055	NM_000195.5(HPS1):c.498C>T (p.Phe166=)	HPS1 (R119C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 934183	NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)	HPS1 (Y156fs +2 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic
Select item 879140	NM_000195.5(HPS1):c.473G>A (p.Arg158His)	HPS1 (R158H +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1417567	NM_000195.5(HPS1):c.419C>T (p.Ala140Val)	HPS1 (A17V +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1141642	NM_000195.5(HPS1):c.399-5C>T	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 21104	NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)	HPS1 (R131*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 1405938	NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)	HPS1 (I130T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 21103	NM_000195.5(HPS1):c.355del (p.His119fs)	HPS1 (H119fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 990848	NM_000195.5(HPS1):c.320G>A (p.Arg107Gln)	HPS1 (R107Q)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1479929	NM_000195.5(HPS1):c.316C>T (p.Arg106Trp)	HPS1 (R106W)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
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 1367624	NM_000195.5(HPS1):c.201C>G (p.Asp67Glu)	HPS1 (D67E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 766028	NM_000195.5(HPS1):c.198G>C (p.Ser66=)	HPS1	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1641233	NM_000195.5(HPS1):c.118-19T>A	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1378710	NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)	HPS1 (L28Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 991843	NM_000195.5(HPS1):c.31G>A (p.Ala11Thr)	HPS1 (A11T)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1310667	NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)	HPS1 (L5F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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Items: 80