ClinVar for MedGen (Select 854711) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068161	NM_181507.2(HPS5):c.3373T>G (p.Trp1125Gly)	HPS5 (W1011G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 2627056	NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)	HPS5 (P773T +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 2432532	NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)	HPS5 (L651F +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 1806326	NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)	HPS5 (K576Q +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 1695385	NM_181507.2(HPS5):c.370C>T (p.Arg124Ter)	LOC130005404, HPS5 (R10* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1695384	NM_181507.2(HPS5):c.406C>G (p.Leu136Val)	HPS5 (L136V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 1684476	NM_181507.2(HPS5):c.755G>A (p.Gly252Glu)	HPS5 (G138E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511391	NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)	HPS5 (E689G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1492272	NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)	HPS5 (L226F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1428566	NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)	HPS5 (S598R +1 more)	Single nucleotide variant (missense variant)	HPS5-related condition +2 more	GUncertain significance
Select item 1413968	NM_181507.2(HPS5):c.323G>T (p.Arg108Leu)	HPS5, LOC130005404 (R108L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1406824	NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)	HPS5 (P842L +1 more)	Single nucleotide variant (missense variant)	HPS5-related condition +2 more	GUncertain significance
Select item 1405318	NM_181507.2(HPS5):c.2077del (p.Arg693fs)	HPS5 (R579fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 1351770	NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)	HPS5 (L533S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339232	NM_181507.2(HPS5):c.1862+1G>A	HPS5	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1170145	NM_181507.2(HPS5):c.1324-32dup	HPS5	Duplication (intron variant)	not provided +1 more	GBenign
Select item 880516	NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)	HPS5 (R1008W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880515	NM_181507.2(HPS5):c.*95C>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 880514	NM_181507.2(HPS5):c.*157G>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 880513	NM_181507.2(HPS5):c.*276T>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 879789	NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)	HPS5 (W64L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 879788	NM_181507.2(HPS5):c.535G>A (p.Val179Ile)	HPS5 (V179I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879744	NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)	HPS5 (G444V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 879743	NM_181507.2(HPS5):c.1692T>C (p.Pro564=)	HPS5	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 879742	NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)	HPS5 (K476T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 879741	NM_181507.2(HPS5):c.1803T>C (p.Thr601=)	HPS5	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 879740	NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)	HPS5 (S488N +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +1 more	GUncertain significance
Select item 879407	NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)	HPS5 (R82Q +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 879406	NM_181507.2(HPS5):c.885C>T (p.Leu295=)	HPS5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879405	NM_181507.2(HPS5):c.1012A>C (p.Asn338His)	HPS5 (N224H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879404	NM_181507.2(HPS5):c.1032C>T (p.His344=)	HPS5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879403	NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)	HPS5 (N346S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 879367	NM_181507.2(HPS5):c.2058A>G (p.Glu686=)	HPS5	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 879366	NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)	HPS5 (G732R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 879327	NM_181507.2(HPS5):c.*469A>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 878827	NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)	HPS5 (S356Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878826	NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)	HPS5 (E328G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 878775	NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)	HPS5 (R906W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 878731	NM_181507.2(HPS5):c.*839T>C	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 878006	NM_181507.1(HPS5):c.-251C>T	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 877847	NM_181507.2(HPS5):c.-195A>G	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 877846	NM_181507.2(HPS5):c.-82T>G	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 877845	NM_181507.2(HPS5):c.-75A>G	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 877784	NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)	HPS5 (M398I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +1 more	GUncertain significance
Select item 877743	NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)	HPS5 (G972V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 877704	NM_181507.2(HPS5):c.*1201A>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 800835	NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)	HPS5 (A16P)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 737389	NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)	HPS5 (R339C +1 more)	Single nucleotide variant (missense variant)	HPS5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 717622	NM_181507.2(HPS5):c.2721A>G (p.Ser907=)	HPS5	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 627333	NM_181507.2(HPS5):c.543del (p.Gln181fs)	HPS5 (Q181fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 522309	NM_181507.2(HPS5):c.240C>T (p.Val80=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 435459	NM_181507.2(HPS5):c.107del (p.Lys36fs)	HPS5 (K36fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 435458	NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)	HPS5 (Y956H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 435454	NM_181507.2(HPS5):c.3059-10G>A	HPS5	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 431165	NM_181507.2(HPS5):c.285-10A>G	HPS5	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 431164	NM_181507.2(HPS5):c.1423del (p.Leu475fs)	HPS5 (L361fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 427885	11p15.1 deletion	HPS5	Deletion	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427884	NM_181507.2(HPS5):c.719G>C (p.Arg240Pro)	HPS5 (R240P +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427883	NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs)	HPS5 (E917fs +1 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427882	NM_181507.2(HPS5):c.3058+3A>G	HPS5	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427881	NM_181507.2(HPS5):c.219G>A (p.Arg73=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427880	NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser)	HPS5 (L740S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427879	NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter)	HPS5 (Q473* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 427878	NM_181507.2(HPS5):c.818_822del (p.Thr273fs)	HPS5 (T159fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 427877	NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del)	HPS5 (L1033del +1 more)	Deletion (inframe_deletion)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 427876	NM_181507.2(HPS5):c.1900del (p.Glu634fs)	HPS5 (E520fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 303907	NM_181507.1(HPS5):c.-263A>G	LOC126861152, HPS5	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303906	NM_181507.1(HPS5):c.-251C>A	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 5	GBenign
Select item 303905	NM_181507.1(HPS5):c.-250G>T	LOC126861152, HPS5	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 5	GBenign
Select item 303904	NM_181507.2(HPS5):c.-217G>A	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303903	NM_181507.2(HPS5):c.-197C>T	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303902	NM_181507.2(HPS5):c.-142C>T	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GBenign
Select item 303901	NM_181507.2(HPS5):c.-91C>G	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GBenign
Select item 303900	NM_181507.2(HPS5):c.-64A>G	HPS5, LOC126861152	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303899	NM_181507.2(HPS5):c.163G>A (p.Gly55Arg)	HPS5 (G55R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 303898	NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)	HPS5 (A81T)	Single nucleotide variant (5 prime UTR variant +1 more)	HPS5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 303897	NM_181507.2(HPS5):c.260A>T (p.Asp87Val)	HPS5 (D87V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303896	NM_181507.2(HPS5):c.309A>G (p.Glu103=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	HPS5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 303894	NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys)	HPS5 (R359C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303893	NM_181507.2(HPS5):c.1076G>A (p.Arg359His)	HPS5 (R359H +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303892	NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly)	HPS5 (R375G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303891	NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln)	HPS5 (L492Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303890	NM_181507.2(HPS5):c.1479A>G (p.Pro493=)	HPS5	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303889	NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu)	HPS5 (S499L +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303888	NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)	HPS5 (G501R +1 more)	Single nucleotide variant (missense variant)	HPS5-related condition +3 more	GBenign/Likely benign
Select item 303887	NM_181507.2(HPS5):c.1510+3G>A	HPS5	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303886	NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln)	HPS5 (K517Q +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303885	NM_181507.2(HPS5):c.1609G>T (p.Val537Leu)	HPS5 (V537L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303884	NM_181507.2(HPS5):c.1785-9C>A	HPS5	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303883	NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile)	HPS5 (L613I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303882	NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)	HPS5 (E634K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 303881	NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly)	HPS5 (E715G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303878	NM_181507.2(HPS5):c.2247A>G (p.Val749=)	HPS5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303877	NM_181507.2(HPS5):c.2441-8T>C	HPS5	Single nucleotide variant (intron variant)	HPS5-related condition +3 more	GBenign/Likely benign
Select item 303876	NM_181507.2(HPS5):c.2461G>T (p.Val821Leu)	HPS5 (V821L +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +1 more	GUncertain significance
Select item 303875	NM_181507.2(HPS5):c.2521G>T (p.Val841Phe)	HPS5 (V841F +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +2 more	GUncertain significance
Select item 303874	NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)	HPS5 (P846L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 303873	NM_181507.2(HPS5):c.2562-14G>C	HPS5	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 303871	NM_181507.2(HPS5):c.2838-13T>C	HPS5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303870	NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)	HPS5 (E1016K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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