ClinVar for MedGen (Select 36313) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25038681.	NM_181507.2(HPS5):c.478-2A>G GRCh37: Chr11:18330628 GRCh38: Chr11:18309081	HPS5		Hermansky-Pudlak syndrome	Likely pathogenic (Apr 17, 2023)	criteria provided, single submitter
Select item 25038222.	NM_022081.6(HPS4):c.1501_1505del (p.His501fs) GRCh37: Chr22:26860091-26860095 GRCh38: Chr22:26464125-26464129	HPS4	H496fs, H501fs, H519fs	Hermansky-Pudlak syndrome	Likely pathogenic (Apr 6, 2023)	criteria provided, single submitter
Select item 25012693.	NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs) GRCh37: Chr3:148885015-148885019 GRCh38: Chr3:149167228-149167232	CP, HPS3	E765fs, E930fs	Hermansky-Pudlak syndrome	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 25011154.	NM_001261826.3(AP3D1):c.2143del (p.Val715fs) GRCh37: Chr19:2115543 GRCh38: Chr19:2115544	AP3D1	V715fs	Hermansky-Pudlak syndrome	Likely pathogenic (Mar 21, 2023)	criteria provided, single submitter
Select item 25010525.	NM_000195.4(HPS1):c.1602_1605delCCTA GRCh37: Chr10:100182264-100182267 GRCh38: Chr10:98422507-98422510	HPS1		Hermansky-Pudlak syndrome	Likely pathogenic (Mar 27, 2023)	criteria provided, single submitter
Select item 24459646.	NM_024747.6(HPS6):c.1931_1953del (p.Val644fs) GRCh37: Chr10:103827160-103827182 GRCh38: Chr10:102067403-102067425	HPS6	V644fs	Hermansky-Pudlak syndrome	Likely pathogenic (Feb 24, 2023)	criteria provided, single submitter
Select item 24459287.	NM_024747.6(HPS6):c.368del (p.Gly123fs) GRCh37: Chr10:103825597 GRCh38: Chr10:102065840	HPS6	G123fs	Hermansky-Pudlak syndrome	Likely pathogenic (Feb 20, 2023)	criteria provided, single submitter
Select item 21546138.	NM_000195.5(HPS1):c.1777del (p.Leu593fs) GRCh37: Chr10:100179882 GRCh38: Chr10:98420125	HPS1	L506fs, L560fs, L269fs, L437fs, L470fs, L473fs, L593fs	not provided, Hermansky-Pudlak syndrome	Pathogenic/Likely pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21520939.	NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter) GRCh37: Chr10:103826618 GRCh38: Chr10:102066861	HPS6	R463*	not provided, Hermansky-Pudlak syndrome	Pathogenic/Likely pathogenic (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 187834410.	NM_022081.6(HPS4):c.803+1G>A GRCh37: Chr22:26861420 GRCh38: Chr22:26465454	HPS4		Hermansky-Pudlak syndrome	Likely pathogenic (Dec 19, 2022)	criteria provided, single submitter
Select item 187831411.	NM_003664.5(AP3B1):c.1789dup (p.Ile597fs) GRCh37: Chr5:77424992-77424993 GRCh38: Chr5:78129168-78129169	AP3B1	I548fs, I597fs	Hermansky-Pudlak syndrome	Likely pathogenic (Dec 2, 2022)	criteria provided, single submitter
Select item 170522512.	NM_003664.5(AP3B1):c.1651-2A>T GRCh37: Chr5:77425133 GRCh38: Chr5:78129309	AP3B1		Hermansky-Pudlak syndrome	Likely pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 170509413.	NM_024747.6(HPS6):c.2028del (p.Glu677fs) GRCh37: Chr10:103827258 GRCh38: Chr10:102067501	HPS6	E677fs	Hermansky-Pudlak syndrome	Likely pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 170462614.	NM_181507.2(HPS5):c.2837+1G>A GRCh37: Chr11:18308137 GRCh38: Chr11:18286590	HPS5		Hermansky-Pudlak syndrome, not provided	Likely pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170460515.	NC_000003.11:g.(148847728_148857790)_(148890984_?)del GRCh37: Chr3:148847728-148890984	CP, HPS3		Hermansky-Pudlak syndrome	Likely pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 170460416.	NM_032122.5(DTNBP1):c.448_449del (p.Met150fs) GRCh37: Chr6:15615537-15615538 GRCh38: Chr6:15615306-15615307	DTNBP1	M115fs, M133fs, M69fs, M150fs	Hermansky-Pudlak syndrome	Likely pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 170459817.	NM_024747.6(HPS6):c.1556del (p.Gly519fs) GRCh37: Chr10:103826784 GRCh38: Chr10:102067027	HPS6	G519fs	Hermansky-Pudlak syndrome	Likely pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 169857018.	NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) GRCh37: Chr22:26860061 GRCh38: Chr22:26464095	HPS4	S507, S512, S530*	Hermansky-Pudlak syndrome	Likely pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 167707319.	NM_024747.6(HPS6):c.229_232del (p.Ser77fs) GRCh37: Chr10:103825457-103825460 GRCh38: Chr10:102065700-102065703	HPS6, LOC130004578	S77fs	Hermansky-Pudlak syndrome	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 145227620.	NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) GRCh37: Chr10:103825280-103825281 GRCh38: Chr10:102065523-102065524	LOC130004578, HPS6	L22fs	Hermansky-Pudlak syndrome, HPS6-related condition, not provided	Pathogenic (Jul 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144450121.	NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) GRCh37: Chr15:45897644-45897645 GRCh38: Chr15:45605446-45605447	BLOC1S6	Y111fs, I87fs, Y116fs	Hermansky-Pudlak syndrome, BLOC1S6-related condition, Hermansky-Pudlak syndrome 9	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 142240522.	NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) GRCh37: Chr10:103825964 GRCh38: Chr10:102066207	HPS6	R245*	not provided, Hermansky-Pudlak syndrome	Pathogenic/Likely pathogenic (Mar 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134139723.	NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) GRCh37: Chr10:100183529 GRCh38: Chr10:98423772	HPS1	Q181, Q349, Q382, Q385, Q418, Q472, Q505*	Hermansky-Pudlak syndrome	Pathogenic (Nov 29, 2021)	criteria provided, single submitter
Select item 134139124.	NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) GRCh37: Chr10:100179872 GRCh38: Chr10:98420115	HPS1	G272V, G440V, G473V, G476V, G509V, G563V, G596V	Hermansky-Pudlak syndrome	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 134138625.	NM_000195.5(HPS1):c.1858-1G>A GRCh37: Chr10:100178015 GRCh38: Chr10:98418258	HPS1		not provided, Hermansky-Pudlak syndrome	Pathogenic/Likely pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134138326.	NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) GRCh37: Chr10:100195111 GRCh38: Chr10:98435354	HPS1	R106G	Hermansky-Pudlak syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 134138227.	NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) GRCh37: Chr10:100177935 GRCh38: Chr10:98418178	HPS1	Y322C, Y490C, Y523C, Y526C, Y559C, Y613C, Y646C	Hermansky-Pudlak syndrome	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 134138128.	NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) GRCh37: Chr10:100189339 GRCh38: Chr10:98429582	HPS1	Q154, Q187, Q190, Q223, Q277, Q310	Hermansky-Pudlak syndrome	Pathogenic (Nov 29, 2021)	criteria provided, single submitter
Select item 134138029.	NM_000195.5(HPS1):c.962del (p.Gly321fs) GRCh37: Chr10:100186997 GRCh38: Chr10:98427240	HPS1	G165fs, G198fs, G201fs, G234fs, G288fs, G321fs	not provided, Hermansky-Pudlak syndrome	Pathogenic/Likely pathogenic (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134137930.	NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) GRCh37: Chr10:100185318 GRCh38: Chr10:98425561	HPS1	R115, R283, R316, R319, R352, R406, R439*	Hermansky-Pudlak syndrome, not provided	Pathogenic (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134137831.	NM_000195.5(HPS1):c.1375del (p.Ser459fs) GRCh37: Chr10:100184092 GRCh38: Chr10:98424335	HPS1	S303fs, S339fs, S372fs, S426fs, S135fs, S336fs, S459fs	Hermansky-Pudlak syndrome, not provided	Pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134137732.	NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) GRCh37: Chr10:100183535 GRCh38: Chr10:98423778	HPS1	Q179, Q347, Q380, Q383, Q416, Q470, Q503*	Hermansky-Pudlak syndrome	Pathogenic (Nov 29, 2021)	criteria provided, single submitter
Select item 134137633.	NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) GRCh37: Chr10:100177428 GRCh38: Chr10:98417671	HPS1	E342K, E510K, E543K, E546K, E579K, E633K, E666K	Hermansky-Pudlak syndrome	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 120273734.	NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys) GRCh37: Chr10:100182224 GRCh38: Chr10:98422467	HPS1	R225C, R393C, R426C, R429C, R462C, R516C, R549C	not provided	Uncertain significance (May 30, 2019)	criteria provided, single submitter
Select item 119227435.	NM_022081.6(HPS4):c.1713+1G>A GRCh37: Chr22:26859882 GRCh38: Chr22:26463916	HPS4		Hermansky-Pudlak syndrome	Likely pathogenic (Jul 20, 2021)	criteria provided, single submitter
Select item 118829636.	NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) GRCh37: Chr10:100189568 GRCh38: Chr10:98429811	HPS1	G160R, G196R, G283R	not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116910437.	NM_032383.5(HPS3):c.2887+18_2887+19dup GRCh37: Chr3:148885779-148885780 GRCh38: Chr3:149167992-149167993	CP, HPS3		not provided	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 114762738.	NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) GRCh37: Chr10:100183633 GRCh38: Chr10:98423876	HPS1	A146V, A314V, A347V, A350V, A383V, A437V, A470V	not provided, Hermansky-Pudlak syndrome 1	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108229839.	NM_000195.5(HPS1):c.1245C>T (p.Pro415=) GRCh37: Chr10:100185388 GRCh38: Chr10:98425631	HPS1		not provided, Hermansky-Pudlak syndrome 1	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107413340.	NM_000195.5(HPS1):c.988-1G>T GRCh37: Chr10:100185743 GRCh38: Chr10:98425986	HPS1		not provided, Hermansky-Pudlak syndrome	Pathogenic/Likely pathogenic (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106774841.	NM_032383.5(HPS3):c.2796+2T>C GRCh37: Chr3:148885029 GRCh38: Chr3:149167242	CP, HPS3		not provided	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 106751842.	NM_032383.5(HPS3):c.2589+2T>C GRCh37: Chr3:148881738 GRCh38: Chr3:149163951	CP, HPS3		Hermansky-Pudlak syndrome 3, not provided	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106399743.	NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) GRCh37: Chr10:100179893 GRCh38: Chr10:98420136	HPS1	A265V, A433V, A466V, A469V, A502V, A556V, A589V	Hermansky-Pudlak syndrome 1, not provided	Uncertain significance (Jun 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106328344.	NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) GRCh37: Chr10:100189639 GRCh38: Chr10:98429882	HPS1	P136L, P172L, P259L, R220C	not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106136845.	NM_032383.5(HPS3):c.2018C>T (p.Ser673Leu) GRCh37: Chr3:148877978 GRCh38: Chr3:149160191	HPS3	S508L, S673L	Inborn genetic diseases, not provided	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105996546.	NM_032383.5(HPS3):c.905C>T (p.Ser302Leu) GRCh37: Chr3:148859102 GRCh38: Chr3:149141315	HPS3	S137L, S302L	not provided	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 105710747.	NM_000195.5(HPS1):c.303C>T (p.Ser101=) GRCh37: Chr10:100195124 GRCh38: Chr10:98435367	HPS1		not provided	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 105178048.	NM_000195.5(HPS1):c.1398-8G>A GRCh37: Chr10:100183652 GRCh38: Chr10:98423895	HPS1		not provided	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 103225049.	NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) GRCh37: Chr10:100179896 GRCh38: Chr10:98420139	HPS1	L264P, L465P, L432P, L468P, L501P, L588P, L555P	Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1	Uncertain significance (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102197750.	NM_000195.5(HPS1):c.1107G>A (p.Met369Ile) GRCh37: Chr10:100185623 GRCh38: Chr10:98425866	HPS1	M213I, M246I, M249I, M282I, M336I, M369I, M45I	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 101004951.	NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) GRCh37: Chr10:100187019 GRCh38: Chr10:98427262	HPS1	S158G, S191G, S194G, S227G, S281G, S314G	Hermansky-Pudlak syndrome 1, not provided	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99919752.	NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr) GRCh37: Chr3:148857878 GRCh38: Chr3:149140091	HPS3	S102Y	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 99184453.	NM_000195.5(HPS1):c.9C>T (p.Cys3=) GRCh37: Chr10:100202989 GRCh38: Chr10:98443232	HPS1		not provided	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 99184354.	NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) GRCh37: Chr10:100202967 GRCh38: Chr10:98443210	HPS1	A11T	Hermansky-Pudlak syndrome 1, not provided	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99184255.	NM_000195.5(HPS1):c.268C>G (p.Leu90Val) GRCh37: Chr10:100195159 GRCh38: Chr10:98435402	HPS1	L90V	Hermansky-Pudlak syndrome	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99176756.	NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) GRCh37: Chr3:148889956 GRCh38: Chr3:149172169	CP, HPS3	T823A, T988A	Hermansky-Pudlak syndrome 3	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 99144557.	NM_032383.5(HPS3):c.2932A>G (p.Met978Val) GRCh37: Chr3:148889926 GRCh38: Chr3:149172139	CP, HPS3	M813V, M978V	Hermansky-Pudlak syndrome	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99144458.	NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) GRCh37: Chr3:148881671 GRCh38: Chr3:149163884	CP, HPS3	H677Y, H842Y	not provided	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 99144359.	NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) GRCh37: Chr3:148880643 GRCh38: Chr3:149162856	CP, HPS3	P655R, P820R	Hermansky-Pudlak syndrome	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99144260.	NM_032383.5(HPS3):c.2370C>G (p.Leu790=) GRCh37: Chr3:148880554 GRCh38: Chr3:149162767	CP, HPS3		not provided	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 99144161.	NM_032383.5(HPS3):c.1951A>G (p.Met651Val) GRCh37: Chr3:148877911 GRCh38: Chr3:149160124	HPS3	M486V, M651V	not provided	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 99144062.	NM_032383.5(HPS3):c.1128A>G (p.Ala376=) GRCh37: Chr3:148863298 GRCh38: Chr3:149145511	HPS3		not provided	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 99143963.	NM_032383.5(HPS3):c.884+7T>C GRCh37: Chr3:148858982 GRCh38: Chr3:149141195	HPS3		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 99143864.	NM_032383.5(HPS3):c.864C>T (p.His288=) GRCh37: Chr3:148858955 GRCh38: Chr3:149141168	HPS3		Hermansky-Pudlak syndrome	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 99143765.	NM_032383.5(HPS3):c.701G>A (p.Arg234Gln) GRCh37: Chr3:148858274 GRCh38: Chr3:149140487	HPS3	R234Q	not provided	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 99143666.	NM_032383.5(HPS3):c.687C>A (p.Asn229Lys) GRCh37: Chr3:148858260 GRCh38: Chr3:149140473	HPS3	N229K	Hermansky-Pudlak syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99084967.	NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) GRCh37: Chr10:100195120 GRCh38: Chr10:98435363	HPS1	G103W	Hermansky-Pudlak syndrome	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99084868.	NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) GRCh37: Chr10:100195107 GRCh38: Chr10:98435350	HPS1	R107Q	not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99084769.	NM_000195.5(HPS1):c.614A>G (p.Glu205Gly) GRCh37: Chr10:100190942 GRCh38: Chr10:98431185	HPS1	E205G, E82G	Hermansky-Pudlak syndrome	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99084670.	NM_000195.5(HPS1):c.723T>A (p.Val241=) GRCh37: Chr10:100190373 GRCh38: Chr10:98430616	HPS1	F202Y	not provided	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 99084571.	NM_000195.5(HPS1):c.741C>T (p.Ser247=) GRCh37: Chr10:100190355 GRCh38: Chr10:98430598	HPS1	A208V	not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 99084472.	NM_000195.5(HPS1):c.819C>T (p.Ala273=) GRCh37: Chr10:100189596 GRCh38: Chr10:98429839	HPS1	P234L	not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 99084373.	NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) GRCh37: Chr10:100189565 GRCh38: Chr10:98429808	HPS1	G161R, G197R, G284R	Hermansky-Pudlak syndrome	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99084274.	NM_000195.5(HPS1):c.924C>T (p.Gly308=) GRCh37: Chr10:100189343 GRCh38: Chr10:98429586	HPS1	A236V, A269V	Hermansky-Pudlak syndrome	Uncertain significance (Apr 10, 2020)	no assertion criteria provided
Select item 99084175.	NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) GRCh37: Chr10:100189341 GRCh38: Chr10:98429584	HPS1	D153G, D186G, D189G, D222G, D276G, D309G, I237V, I270V	not provided	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 99084076.	NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) GRCh37: Chr10:100186989 GRCh38: Chr10:98427232	HPS1	P168A, P201A, P204A, P237A, P291A, P324A	not provided, Inborn genetic diseases, Hermansky-Pudlak syndrome 1	Uncertain significance (Jan 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99083977.	NM_000195.5(HPS1):c.973A>G (p.Met325Val) GRCh37: Chr10:100186986 GRCh38: Chr10:98427229	HPS1	M169V, M1V, M202V, M205V, M238V, M292V, M325V	Hermansky-Pudlak syndrome	Uncertain significance (Apr 10, 2020)	no assertion criteria provided
Select item 99083878.	NM_000195.5(HPS1):c.1156-8A>C GRCh37: Chr10:100185485 GRCh38: Chr10:98425728	HPS1		Hermansky-Pudlak syndrome	Uncertain significance (Apr 10, 2020)	no assertion criteria provided
Select item 99083779.	NM_000195.5(HPS1):c.1285C>T (p.Arg429Cys) GRCh37: Chr10:100185348 GRCh38: Chr10:98425591	HPS1	R105C, R273C, R306C, R309C, R342C, R396C, R429C	Hermansky-Pudlak syndrome	Uncertain significance (Apr 10, 2020)	no assertion criteria provided
Select item 99083680.	NM_000195.5(HPS1):c.1431G>A (p.Gln477=) GRCh37: Chr10:100183611 GRCh38: Chr10:98423854	HPS1		not provided	Likely benign (May 21, 2020)	criteria provided, single submitter
Select item 99083581.	NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln) GRCh37: Chr10:100183594 GRCh38: Chr10:98423837	HPS1	R159Q, R327Q, R360Q, R363Q, R396Q, R450Q, R483Q	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99083482.	NM_000195.5(HPS1):c.1646G>A (p.Arg549His) GRCh37: Chr10:100182223 GRCh38: Chr10:98422466	HPS1	R225H, R393H, R426H, R429H, R462H, R516H, R549H	Hermansky-Pudlak syndrome	Uncertain significance (Apr 10, 2020)	no assertion criteria provided
Select item 99083383.	NM_000195.5(HPS1):c.1667C>T (p.Ala556Val) GRCh37: Chr10:100182202 GRCh38: Chr10:98422445	HPS1	A232V, A400V, A433V, A436V, A469V, A523V, A556V	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 99083284.	NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) GRCh37: Chr10:100182160 GRCh38: Chr10:98422403	HPS1	G246A, G414A, G447A, G450A, G483A, G537A, G570A	not provided	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 99083185.	NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) GRCh37: Chr10:100179863 GRCh38: Chr10:98420106	HPS1	T275M, T443M, T476M, T479M, T512M, T566M, T599M	not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99083086.	NM_000195.5(HPS1):c.1855A>G (p.Met619Val) GRCh37: Chr10:100179804 GRCh38: Chr10:98420047	HPS1	M295V, M463V, M496V, M499V, M532V, M586V, M619V	not provided	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 99017587.	NM_000195.5(HPS1):c.1977C>T (p.Thr659=) GRCh37: Chr10:100177447 GRCh38: Chr10:98417690	HPS1		not provided, Hermansky-Pudlak syndrome 1	Likely benign (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99017488.	NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) GRCh37: Chr10:100177356 GRCh38: Chr10:98417599	HPS1	R366C, R534C, R567C, R570C, R603C, R657C, R690C	not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99017389.	NM_000195.5(HPS1):c.2087G>A (p.Arg696His) GRCh37: Chr10:100177337 GRCh38: Chr10:98417580	HPS1	R372H, R540H, R573H, R576H, R609H, R663H, R696H	not provided, Hermansky-Pudlak syndrome 1	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96260390.	NM_032383.5(HPS3):c.2589+1G>T GRCh37: Chr3:148881737 GRCh38: Chr3:149163950	CP, HPS3		not provided	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 96224591.	NM_000195.5(HPS1):c.1932del (p.Tyr645fs) GRCh37: Chr10:100177940 GRCh38: Chr10:98418183	HPS1	Y558fs, Y612fs, Y645fs, Y525fs, Y321fs, Y489fs, Y522fs	not provided, Hermansky-Pudlak syndrome	Likely pathogenic (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95690392.	NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) GRCh37: Chr3:148880035-148880036 GRCh38: Chr3:149162248-149162249	HPS3	Q737fs, Q572fs	Hermansky-Pudlak syndrome 3, not provided	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94400593.	NM_000195.5(HPS1):c.852del (p.Ser285fs) GRCh37: Chr10:100189563 GRCh38: Chr10:98429806	HPS1	G245fs, S198fs, S162fs, S285fs	Hermansky-Pudlak syndrome, not provided	Pathogenic/Likely pathogenic (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93779494.	NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) GRCh37: Chr10:100191039 GRCh38: Chr10:98431282	HPS1	R173, R50	Hermansky-Pudlak syndrome, not provided, Hermansky-Pudlak syndrome 1	Pathogenic (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93092395.	NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) GRCh37: Chr3:148880648 GRCh38: Chr3:149162861	CP, HPS3	R822, R657	not provided, Hermansky-Pudlak syndrome 3	Pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90311896.	NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) GRCh37: Chr3:148858810 GRCh38: Chr3:149141023	HPS3	S75N, S240N	not provided, Hermansky-Pudlak syndrome 3	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 90311697.	NM_032383.5(HPS3):c.694A>G (p.Ile232Val) GRCh37: Chr3:148858267 GRCh38: Chr3:149140480	HPS3	I232V	Hermansky-Pudlak syndrome 3, not provided	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89949398.	NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) GRCh37: Chr3:148863228 GRCh38: Chr3:149145441	HPS3	Y353C, Y188C	Hermansky-Pudlak syndrome 3, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87914199.	NM_000195.5(HPS1):c.468C>T (p.Tyr156=) GRCh37: Chr10:100193779 GRCh38: Chr10:98434022	HPS1	Q109*	Hermansky-Pudlak syndrome 1, not provided	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 879091100.	NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) GRCh37: Chr10:100179868 GRCh38: Chr10:98420111	HPS1		Hermansky-Pudlak syndrome 1, not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations

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