"GeneDx"[submitter] AND "HPS1"[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 298333	NM_000195.5(HPS1):c.*272C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1249265	NM_000195.5(HPS1):c.147_148insTCCATGGTCTAAAACC	HPS1	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 817694	NM_000195.5(HPS1):c.1989del (p.Arg663fs)	HPS1 (R339fs +6 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1068714	NM_000195.5(HPS1):c.1925del (p.Gly642fs)	HPS1 (G318fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 21100	NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)	HPS1 (V630I +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1341386	NM_000195.5(HPS1):c.1858-1G>A	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome +2 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 specified +2 more	GBenign
Select item 1280614	NM_000195.5(HPS1):c.1744-59A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706781	NM_000195.5(HPS1):c.1744-149G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183565	NM_000195.5(HPS1):c.1744-202G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281273	NM_000195.5(HPS1):c.1744-294C>T	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251086	NM_000195.5(HPS1):c.1743+279A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202737	NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys)	HPS1 (R225C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199421	NM_000195.5(HPS1):c.1639G>T (p.Val547Leu)	HPS1 (V223L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167184	NM_000195.5(HPS1):c.1599-15A>G	HPS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1296785	NM_000195.5(HPS1):c.1599-302G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225567	NM_000195.5(HPS1):c.1598+140A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710352	NM_000195.5(HPS1):c.1532+5G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 255501	NM_000195.5(HPS1):c.1527C>G (p.Leu509=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign
Select item 5277	NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	HPS1 (H341fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +3 more	GPathogenic
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 990835	NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln)	HPS1 (R159Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 716161	NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)	HPS1 (Q145R +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1230370	NM_000195.5(HPS1):c.1398-130T>C	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163664	NM_000195.5(HPS1):c.1397+8G>T	HPS1	Single nucleotide variant (intron variant)	not provided +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 1276267	NM_000195.5(HPS1):c.1336-105C>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239303	NM_000195.5(HPS1):c.1335+124G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279503	NM_000195.5(HPS1):c.1335+88A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255499	NM_000195.5(HPS1):c.1335+48G>A	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign
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 280573	NM_000195.5(HPS1):c.988-44_1023delinsT	HPS1	Indel (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1074133	NM_000195.5(HPS1):c.988-1G>T	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1281268	NM_000195.5(HPS1):c.988-76G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228044	NM_000195.5(HPS1):c.987+279_987+280dup	HPS1	Duplication (intron variant)	not provided	GBenign
Select item 1249879	NM_000195.5(HPS1):c.987+218del	HPS1	Deletion (intron variant)	not provided	GBenign
Select item 1212814	NM_000195.5(HPS1):c.987+77C>T	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258095	NM_000195.5(HPS1):c.987+58T>C	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255506	NM_000195.5(HPS1):c.987+13T>C	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1920569	NM_000195.5(HPS1):c.970C>T (p.Pro324Ser)	HPS1 (P201S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1289236	NM_000195.5(HPS1):c.938-111A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295113	NM_000195.5(HPS1):c.937+254C>G	HPS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1180570	NM_000195.5(HPS1):c.937+192T>C	HPS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1290760	NM_000195.5(HPS1):c.937+157C>T	HPS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1180571	NM_000195.5(HPS1):c.937+88C>T	HPS1 (P270S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1276846	NM_000195.5(HPS1):c.937+78C>T	HPS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 specified +2 more	GBenign
Select item 791493	NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)	HPS1 (R176W +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1309099	NM_000195.5(HPS1):c.769-110GGTGGAGG[4]	HPS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1226957	NM_000195.5(HPS1):c.769-128A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213251	NM_000195.5(HPS1):c.769-161C>T	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706725	NM_000195.5(HPS1):c.769-191C>T	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251804	NM_000195.5(HPS1):c.769-282T>C	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301013	NM_000195.5(HPS1):c.768+173C>T	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214186	NM_000195.5(HPS1):c.768+126_768+127del	HPS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1180572	NM_000195.5(HPS1):c.768+64A>G	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 498409	NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)	HPS1 (S104V +2 more)	Indel (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 1274204	NM_000195.5(HPS1):c.507+253G>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235772	NM_000195.5(HPS1):c.507+225C>T	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296835	NM_000195.5(HPS1):c.507+214T>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296836	NM_000195.5(HPS1):c.507+183A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235154	NM_000195.5(HPS1):c.507+61C>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513465	NM_000195.5(HPS1):c.507+13C>T	HPS1 (A126V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 211149	NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)	HPS1 (R160W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 255503	NM_000195.5(HPS1):c.399-35G>A	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign
Select item 1223170	NM_000195.5(HPS1):c.399-54dup	HPS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1246010	NM_000195.5(HPS1):c.399-110T>C	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265086	NM_000195.5(HPS1):c.399-193G>T	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268023	NM_000195.5(HPS1):c.398+313A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209420	NM_000195.5(HPS1):c.398+290C>A	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278141	NM_000195.5(HPS1):c.398+200A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225839	NM_000195.5(HPS1):c.398+145C>A	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230793	NM_000195.5(HPS1):c.398+120A>G	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5283	NM_000195.5(HPS1):c.398+5G>A	HPS1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 449037	NM_000195.5(HPS1):c.398+2T>C	HPS1	Single nucleotide variant (intron variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
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 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 298352	NM_000195.5(HPS1):c.255+9A>G	HPS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1180583	NM_000195.5(HPS1):c.118-54A>T	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2501559	NM_000195.5(HPS1):c.118-118C>A	HPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248600	NM_000195.5(HPS1):c.117+253G>T	HPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1384691	NM_000195.5(HPS1):c.97_100del (p.Ser33fs)	HPS1 (S33fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1310667	NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)	HPS1 (L5F)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 163667	NM_000195.5(HPS1):c.11T>C (p.Val4Ala)	HPS1 (V4A)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1 +2 more	GBenign/Likely benign

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Items: 91