ClinVar for MedGen (Select 854708) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26640411.	NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile) GRCh37: Chr3:148890005 GRCh38: Chr3:149172218	CP, HPS3	T1004I, T839I	Hermansky-Pudlak syndrome 3	Uncertain significance (Nov 24, 2023)	no assertion criteria provided
Select item 26270892.	NM_032383.5(HPS3):c.827C>G (p.Ser276Cys) GRCh37: Chr3:148858918 GRCh38: Chr3:149141131	HPS3	S111C, S276C	Hermansky-Pudlak syndrome 3	Uncertain significance (Oct 30, 2023)	no assertion criteria provided
Select item 17269973.	NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs) GRCh37: Chr3:148881690-148881699 GRCh38: Chr3:149163903-149163912	CP, HPS3	D683fs, D848fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 17264314.	NM_032383.5(HPS3):c.356_357del (p.Lys119fs) GRCh37: Chr3:148857928-148857929 GRCh38: Chr3:149140141-149140142	HPS3	K119fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 17260965.	NM_032383.5(HPS3):c.950_951del (p.Leu317fs) GRCh37: Chr3:148859147-148859148 GRCh38: Chr3:149141360-149141361	HPS3	L152fs, L317fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 17260696.	NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs) GRCh37: Chr3:148858886-148858887 GRCh38: Chr3:149141099-149141100	HPS3	S100fs, S265fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 17257607.	NM_032383.5(HPS3):c.1814del (p.Gly605fs) GRCh37: Chr3:148876574 GRCh38: Chr3:149158787	HPS3	G440fs, G605fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 17257528.	NM_032383.5(HPS3):c.791_792insC (p.Lys264fs) GRCh37: Chr3:148858882-148858883 GRCh38: Chr3:149141095-149141096	HPS3	K264fs, K99fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 17255819.	NM_032383.5(HPS3):c.2380del (p.Val794fs) GRCh37: Chr3:148880563 GRCh38: Chr3:149162776	CP, HPS3	V629fs, V794fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172541310.	NM_032383.5(HPS3):c.795_796del (p.Ser265fs) GRCh37: Chr3:148858885-148858886 GRCh38: Chr3:149141098-149141099	HPS3	S100fs, S265fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 172531911.	NM_032383.5(HPS3):c.513_516del (p.Leu172fs) GRCh37: Chr3:148858086-148858089 GRCh38: Chr3:149140299-149140302	HPS3	L172fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172523812.	NM_032383.5(HPS3):c.931A>T (p.Lys311Ter) GRCh37: Chr3:148859128 GRCh38: Chr3:149141341	HPS3	K146, K311	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172519813.	NM_032383.5(HPS3):c.1150_1153del (p.His384fs) GRCh37: Chr3:148863319-148863322 GRCh38: Chr3:149145532-149145535	HPS3	H219fs, H384fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172514614.	NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter) GRCh37: Chr3:148875254 GRCh38: Chr3:149157467	HPS3	E378, E543	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 172503115.	NM_032383.5(HPS3):c.325_328del (p.Ile109fs) GRCh37: Chr3:148857896-148857899 GRCh38: Chr3:149140109-149140112	HPS3	I109fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Nov 28, 2021)	criteria provided, single submitter
Select item 172492916.	NM_032383.5(HPS3):c.823G>T (p.Glu275Ter) GRCh37: Chr3:148858914 GRCh38: Chr3:149141127	HPS3	E110, E275	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172490717.	NM_032383.5(HPS3):c.2525_2526del (p.His842fs) GRCh37: Chr3:148881671-148881672 GRCh38: Chr3:149163884-149163885	CP, HPS3	H677fs, H842fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172489118.	NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs) GRCh37: Chr3:148881657-148881658 GRCh38: Chr3:149163870-149163871	CP, HPS3	Y673fs, Y838fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172483619.	NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs) GRCh37: Chr3:148878046-148878053 GRCh38: Chr3:149160259-149160266	HPS3	E531fs, E696fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 172482820.	NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter) GRCh37: Chr3:148871310 GRCh38: Chr3:149153523	HPS3	C260, C425	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172467821.	NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs) GRCh37: Chr3:148858078 GRCh38: Chr3:149140291	HPS3	E169fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172463822.	NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs) GRCh37: Chr3:148880115-148880117 GRCh38: Chr3:149162328-149162330	HPS3	F598fs, F763fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 172462923.	NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs) GRCh37: Chr3:148858174-148858175 GRCh38: Chr3:149140387-149140388	HPS3	M201fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 172459524.	NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter) GRCh37: Chr3:148880037 GRCh38: Chr3:149162250	HPS3	Q572, Q737	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 172458325.	NM_032383.5(HPS3):c.964del (p.Gln322fs) GRCh37: Chr3:148859160 GRCh38: Chr3:149141373	HPS3	Q157fs, Q322fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 172454426.	NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs) GRCh37: Chr3:148858190-148858191 GRCh38: Chr3:149140403-149140404	HPS3	L207fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172450527.	NM_032383.5(HPS3):c.288_289del (p.Asn96fs) GRCh37: Chr3:148857860-148857861 GRCh38: Chr3:149140073-149140074	HPS3	N96fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Nov 14, 2021)	criteria provided, single submitter
Select item 172445428.	NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs) GRCh37: Chr3:148881638-148881640 GRCh38: Chr3:149163851-149163853	CP, HPS3	C666fs, C831fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172441229.	NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs) GRCh37: Chr3:148875312-148875313 GRCh38: Chr3:149157525-149157526	HPS3	Y397fs, Y562fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172437930.	NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter) GRCh37: Chr3:148877998 GRCh38: Chr3:149160211	HPS3	K515, K680	Hermansky-Pudlak syndrome 3	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172426331.	NM_032383.5(HPS3):c.423T>A (p.Cys141Ter) GRCh37: Chr3:148857996 GRCh38: Chr3:149140209	HPS3	C141*	Hermansky-Pudlak syndrome 3	Likely pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 172411832.	NM_032383.5(HPS3):c.809T>A (p.Leu270Ter) GRCh37: Chr3:148858900 GRCh38: Chr3:149141113	HPS3	L105, L270	Hermansky-Pudlak syndrome 3	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172407533.	NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter) GRCh37: Chr3:148878040 GRCh38: Chr3:149160253	HPS3	R529, R694	Hermansky-Pudlak syndrome 3	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172399434.	NM_032383.5(HPS3):c.956_957del (p.Pro319fs) GRCh37: Chr3:148859152-148859153 GRCh38: Chr3:149141365-149141366	HPS3	P154fs, P319fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172398135.	NM_032383.5(HPS3):c.855del (p.Lys285fs) GRCh37: Chr3:148858943 GRCh38: Chr3:149141156	HPS3	K120fs, K285fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 172391436.	NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter) GRCh37: Chr3:148884968 GRCh38: Chr3:149167181	CP, HPS3	E748, E913	Hermansky-Pudlak syndrome 3	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 169538637.	NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn) GRCh37: Chr3:148879978 GRCh38: Chr3:149162191	HPS3	I552N, I717N	Hermansky-Pudlak syndrome 3	Uncertain significance	no assertion criteria provided
Select item 148400838.	NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) GRCh37: Chr3:148847692 GRCh38: Chr3:149129905	HPS3	L61P	Hermansky-Pudlak syndrome 3, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139587839.	NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) GRCh37: Chr3:148884964 GRCh38: Chr3:149167177	CP, HPS3		Hermansky-Pudlak syndrome 3, not provided	Pathogenic/Likely pathogenic (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135561740.	NM_032383.5(HPS3):c.1561del (p.Leu521fs) GRCh37: Chr3:148875187 GRCh38: Chr3:149157400	HPS3	L521fs, L356fs	Hermansky-Pudlak syndrome 3, not provided	Pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132454341.	NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) GRCh37: Chr3:148876539 GRCh38: Chr3:149158752	HPS3	W428, W593	Hermansky-Pudlak syndrome 3, not provided	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132306542.	NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) GRCh37: Chr3:148863164-148863165 GRCh38: Chr3:149145377-149145378	HPS3	L168fs, L333fs	Hermansky-Pudlak syndrome 3, not provided	Pathogenic (Jul 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118522143.	NM_032383.5(HPS3):c.2887+81G>A GRCh37: Chr3:148885851 GRCh38: Chr3:149168064	CP, HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118522044.	NM_032383.5(HPS3):c.2107-52A>G GRCh37: Chr3:148879883 GRCh38: Chr3:149162096	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118521945.	NM_032383.5(HPS3):c.2107-57A>G GRCh37: Chr3:148879878 GRCh38: Chr3:149162091	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118521846.	NM_032383.5(HPS3):c.1692-192T>G GRCh37: Chr3:148876261 GRCh38: Chr3:149158474	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118521747.	NM_032383.5(HPS3):c.1164-139A>C GRCh37: Chr3:148868247 GRCh38: Chr3:149150460	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118521648.	NM_032383.5(HPS3):c.1163+62T>G GRCh37: Chr3:148863395 GRCh38: Chr3:149145608	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110434349.	NM_032383.5(HPS3):c.2967T>C (p.Phe989=) GRCh37: Chr3:148889961 GRCh38: Chr3:149172174	CP, HPS3		Hermansky-Pudlak syndrome 3, not provided	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107530150.	NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) GRCh37: Chr3:148868407-148868408 GRCh38: Chr3:149150620-149150621	HPS3	S234fs, S399fs	Hermansky-Pudlak syndrome 3	Likely pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 106751851.	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 106744152.	NM_032383.5(HPS3):c.1509+1G>A GRCh37: Chr3:148873003 GRCh38: Chr3:149155216	HPS3		Hermansky-Pudlak syndrome 3, not provided	Likely pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104926353.	NM_032383.5(HPS3):c.159G>T (p.Gln53His) GRCh37: Chr3:148847669 GRCh38: Chr3:149129882	HPS3	Q53H	not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99176754.	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 97663855.	NM_032383.5(HPS3):c.2078A>G (p.His693Arg) GRCh37: Chr3:148878038 GRCh38: Chr3:149160251	HPS3	H693R, H528R	not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95690356.	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 95092757.	NM_032383.5(HPS3):c.660_661del (p.Arg220fs) GRCh37: Chr3:148858226-148858227 GRCh38: Chr3:149140439-149140440	HPS3	R220fs	not provided, Hermansky-Pudlak syndrome 3	Pathogenic/Likely pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93092358.	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 90312059.	NM_032383.5(HPS3):c.963C>T (p.Tyr321=) GRCh37: Chr3:148859160 GRCh38: Chr3:149141373	HPS3		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90311960.	NM_032383.5(HPS3):c.938A>G (p.His313Arg) GRCh37: Chr3:148859135 GRCh38: Chr3:149141348	HPS3	H148R, H313R	Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90311861.	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 90311762.	NM_032383.5(HPS3):c.700C>T (p.Arg234Trp) GRCh37: Chr3:148858273 GRCh38: Chr3:149140486	HPS3	R234W	Hermansky-Pudlak syndrome 3, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90311663.	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 90311564.	NM_032383.5(HPS3):c.677A>G (p.His226Arg) GRCh37: Chr3:148858250 GRCh38: Chr3:149140463	HPS3	H226R	not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90311465.	NM_032383.5(HPS3):c.632T>C (p.Leu211Pro) GRCh37: Chr3:148858205 GRCh38: Chr3:149140418	HPS3	L211P	Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90237966.	NM_000096.4(CP):c.*1007T>A GRCh37: Chr3:148890494 GRCh38: Chr3:149172707	CP, HPS3		Deficiency of ferroxidase, Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90230967.	NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) GRCh37: Chr3:148876568 GRCh38: Chr3:149158781	HPS3	E603K, E438K	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90230868.	NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly) GRCh37: Chr3:148876548 GRCh38: Chr3:149158761	HPS3	E596G, E431G	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90230769.	NM_032383.5(HPS3):c.1509+5T>C GRCh37: Chr3:148873007 GRCh38: Chr3:149155220	HPS3		not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90224470.	NM_032383.5(HPS3):c.592G>A (p.Val198Ile) GRCh37: Chr3:148858165 GRCh38: Chr3:149140378	HPS3	V198I	not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90224371.	NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) GRCh37: Chr3:148858073 GRCh38: Chr3:149140286	HPS3	N167S	Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90224272.	NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) GRCh37: Chr3:148857971 GRCh38: Chr3:149140184	HPS3	S133L	not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90224173.	NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) GRCh37: Chr3:148857965 GRCh38: Chr3:149140178	HPS3	P131L	Hermansky-Pudlak syndrome 3, not provided	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90224074.	NM_032383.5(HPS3):c.338T>G (p.Val113Gly) GRCh37: Chr3:148857911 GRCh38: Chr3:149140124	HPS3	V113G	Hermansky-Pudlak syndrome 3, Inborn genetic diseases, not provided	Uncertain significance (Aug 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90223975.	NM_032383.5(HPS3):c.323T>C (p.Met108Thr) GRCh37: Chr3:148857896 GRCh38: Chr3:149140109	HPS3	M108T	Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90078176.	NM_000096.4(CP):c.*259C>T GRCh37: Chr3:148891242 GRCh38: Chr3:149173455	CP, HPS3		Deficiency of ferroxidase, Hermansky-Pudlak syndrome 3	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90078077.	NM_000096.4(CP):c.*373C>T GRCh37: Chr3:148891128 GRCh38: Chr3:149173341	HPS3, CP		Deficiency of ferroxidase, Hermansky-Pudlak syndrome 3	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 90070378.	NM_032383.5(HPS3):c.*207C>T GRCh37: Chr3:148890216 GRCh38: Chr3:149172429	HPS3, CP		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90070279.	NM_032383.5(HPS3):c.*138A>T GRCh37: Chr3:148890147 GRCh38: Chr3:149172360	CP, HPS3		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90070180.	NM_032383.5(HPS3):c.*98A>T GRCh37: Chr3:148890107 GRCh38: Chr3:149172320	CP, HPS3		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90062881.	NM_032383.5(HPS3):c.1330C>A (p.His444Asn) GRCh37: Chr3:148871365 GRCh38: Chr3:149153578	HPS3	H444N, H279N	not provided, Hermansky-Pudlak syndrome 3	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90062782.	NM_032383.5(HPS3):c.1200G>C (p.Ala400=) GRCh37: Chr3:148868422 GRCh38: Chr3:149150635	HPS3		not provided, Hermansky-Pudlak syndrome 3	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 90055783.	NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) GRCh37: Chr3:148847642 GRCh38: Chr3:149129855	HPS3	F44L	Hermansky-Pudlak syndrome 3, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90055684.	NM_032383.5(HPS3):c.-50C>T GRCh37: Chr3:148847461 GRCh38: Chr3:149129674	HPS3		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89964185.	NM_000096.4(CP):c.*474T>C GRCh37: Chr3:148891027 GRCh38: Chr3:149173240	CP, HPS3		Hermansky-Pudlak syndrome 3, not provided, Deficiency of ferroxidase	Benign/Likely benign (May 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89964086.	NM_000096.4(CP):c.*536G>C GRCh37: Chr3:148890965 GRCh38: Chr3:149173178	CP, HPS3		Hermansky-Pudlak syndrome 3, Deficiency of ferroxidase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89956387.	NM_032383.5(HPS3):c.*95A>C GRCh37: Chr3:148890104 GRCh38: Chr3:149172317	CP, HPS3		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89956288.	NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) GRCh37: Chr3:148889930 GRCh38: Chr3:149172143	CP, HPS3	N979S, N814S	Hermansky-Pudlak syndrome 3, not provided, Inborn genetic diseases	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89956189.	NM_032383.5(HPS3):c.2887+8G>T GRCh37: Chr3:148885778 GRCh38: Chr3:149167991	HPS3, CP		Hermansky-Pudlak syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89949390.	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 79839691.	NM_032383.5(HPS3):c.10C>T (p.Leu4=) GRCh37: Chr3:148847520 GRCh38: Chr3:149129733	HPS3		not provided, Hermansky-Pudlak syndrome 3	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 76591592.	NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) GRCh37: Chr3:148872896 GRCh38: Chr3:149155109	HPS3	S303L, S468L	not provided, Hermansky-Pudlak syndrome 3	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 76383993.	NM_032383.5(HPS3):c.2196C>T (p.His732=) GRCh37: Chr3:148880024 GRCh38: Chr3:149162237	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76237294.	NM_032383.5(HPS3):c.1228A>G (p.Met410Val) GRCh37: Chr3:148868450 GRCh38: Chr3:149150663	HPS3	M245V, M410V	not provided, Hermansky-Pudlak syndrome 3	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76187795.	NM_032383.5(HPS3):c.1785A>G (p.Val595=) GRCh37: Chr3:148876546 GRCh38: Chr3:149158759	HPS3		not provided, Hermansky-Pudlak syndrome 3	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 75675296.	NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) GRCh37: Chr3:148881674 GRCh38: Chr3:149163887	CP, HPS3	V678I, V843I	not provided, Hermansky-Pudlak syndrome 3	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75084997.	NM_032383.5(HPS3):c.1125G>A (p.Gln375=) GRCh37: Chr3:148863295 GRCh38: Chr3:149145508	HPS3		Hermansky-Pudlak syndrome 3, not provided	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 74060198.	NM_032383.5(HPS3):c.1773G>A (p.Thr591=) GRCh37: Chr3:148876534 GRCh38: Chr3:149158747	HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign/Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72860899.	NM_032383.5(HPS3):c.2469A>G (p.Thr823=) GRCh37: Chr3:148880653 GRCh38: Chr3:149162866	CP, HPS3		not provided, Hermansky-Pudlak syndrome 3	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 723417100.	NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) GRCh37: Chr3:148880562 GRCh38: Chr3:149162775	CP, HPS3	V628A, V793A	not provided, Hermansky-Pudlak syndrome 3	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations

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