ClinVar for MedGen (Select 483344) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849901.	NM_022081.6(HPS4):c.430G>T (p.Glu144Ter) GRCh37: Chr22:26868339 GRCh38: Chr22:26472373	HPS4	E139, E144	Hermansky-Pudlak syndrome 4	Uncertain significance	criteria provided, single submitter
Select item 25028392.	NM_022081.6(HPS4):c.133-2A>T GRCh37: Chr22:26873104 GRCh38: Chr22:26477138	HPS4		Hermansky-Pudlak syndrome 4	Likely pathogenic	criteria provided, single submitter
Select item 24131853.	NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs) GRCh37: Chr22:26854489-26854490 GRCh38: Chr22:26458523-26458524	HPS4	L585fs, L590fs, L608fs	Hermansky-Pudlak syndrome 4	Likely pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 24126684.	NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter) GRCh37: Chr22:26868825 GRCh38: Chr22:26472859	HPS4	Y114, Y119	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 24126675.	NM_022081.6(HPS4):c.554G>A (p.Arg185His) GRCh37: Chr22:26866727 GRCh38: Chr22:26470761	HPS4	R185H, R180H	HPS4-related condition, Hermansky-Pudlak syndrome 4	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24126666.	NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter) GRCh37: Chr22:26860050 GRCh38: Chr22:26464084	HPS4	Q511, Q516, Q534*	not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jan 24, 2023)	criteria provided, conflicting interpretations
Select item 21384247.	NM_022081.6(HPS4):c.47del (p.Asn16fs) GRCh37: Chr22:26875316 GRCh38: Chr22:26479350	HPS4	N11fs, N16fs	Hermansky-Pudlak syndrome 4, not provided	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16912378.	NM_022081.6(HPS4):c.272T>C (p.Leu91Pro) GRCh37: Chr22:26872963 GRCh38: Chr22:26476997	HPS4	L86P, L91P	Hermansky-Pudlak syndrome 4	Uncertain significance	criteria provided, single submitter
Select item 16844179.	NM_022081.6(HPS4):c.2054del (p.Pro685fs) GRCh37: Chr22:26849272 GRCh38: Chr22:26453306	HPS4	P680fs, P685fs, P703fs, S605fs	Hermansky-Pudlak syndrome 4	Pathogenic	criteria provided, single submitter
Select item 151284710.	NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser) GRCh37: Chr22:26849285 GRCh38: Chr22:26453319	HPS4	G699S, G681S, R600Q, G676S	Hermansky-Pudlak syndrome 4, not provided	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132306611.	NM_022081.6(HPS4):c.1152del (p.Gly385fs) GRCh37: Chr22:26860444 GRCh38: Chr22:26464478	HPS4	G380fs, G385fs, G403fs	Hermansky-Pudlak syndrome 4	Pathogenic (Nov 13, 2020)	criteria provided, single submitter
Select item 120492412.	NM_022081.6(HPS4):c.706+1G>A GRCh37: Chr22:26862191 GRCh38: Chr22:26466225	HPS4		not provided, Hermansky-Pudlak syndrome 4	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90360113.	NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) GRCh37: Chr22:26868332 GRCh38: Chr22:26472366	HPS4	I146T, I141T	not provided, Inborn genetic diseases, Hermansky-Pudlak syndrome 4	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90360014.	NM_022081.6(HPS4):c.570C>T (p.Leu190=) GRCh37: Chr22:26866711 GRCh38: Chr22:26470745	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Apr 25, 2022)	criteria provided, conflicting interpretations
Select item 90359915.	NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) GRCh37: Chr22:26866688 GRCh38: Chr22:26470722	HPS4	G198E, G193E	not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 90353116.	NM_022081.6(HPS4):c.930T>C (p.Asp310=) GRCh37: Chr22:26860666 GRCh38: Chr22:26464700	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90353017.	NM_022081.6(HPS4):c.1014C>T (p.Pro338=) GRCh37: Chr22:26860582 GRCh38: Chr22:26464616	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 90347318.	NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) GRCh37: Chr22:26853883 GRCh38: Chr22:26457917	HPS4	V628I, V651I, V633I	not specified, Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 90342619.	NM_022081.6(HPS4):c.*1209T>C GRCh37: Chr22:26847990 GRCh38: Chr22:26452024	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90342520.	NM_022081.6(HPS4):c.*1223T>C GRCh37: Chr22:26847976 GRCh38: Chr22:26452010	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90336421.	NM_022081.6(HPS4):c.*1850G>A GRCh37: Chr22:26847349 GRCh38: Chr22:26451383	HPS4		Hermansky-Pudlak syndrome 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90336322.	NM_022081.6(HPS4):c.*1962C>T GRCh37: Chr22:26847237 GRCh38: Chr22:26451271	HPS4		Hermansky-Pudlak syndrome 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90336223.	NM_022081.6(HPS4):c.*2171C>T GRCh37: Chr22:26847028 GRCh38: Chr22:26451062	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90336124.	NM_022081.6(HPS4):c.*2269A>G GRCh37: Chr22:26846930 GRCh38: Chr22:26450964	HPS4		Hermansky-Pudlak syndrome 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90262825.	NM_022081.6(HPS4):c.-568T>A GRCh37: Chr22:26879729 GRCh38: Chr22:26483763	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90257626.	NM_022081.6(HPS4):c.*1233C>T GRCh37: Chr22:26847966 GRCh38: Chr22:26452000	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90257527.	NM_022081.6(HPS4):c.*1235C>T GRCh37: Chr22:26847964 GRCh38: Chr22:26451998	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90257428.	NM_022081.6(HPS4):c.*1236G>A GRCh37: Chr22:26847963 GRCh38: Chr22:26451997	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90171829.	NM_022081.6(HPS4):c.-317G>A GRCh37: Chr22:26878045 GRCh38: Chr22:26482079	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90171730.	NM_022081.6(HPS4):c.-312C>T GRCh37: Chr22:26878040 GRCh38: Chr22:26482074	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90171631.	NM_022081.6(HPS4):c.-281A>G GRCh37: Chr22:26878009 GRCh38: Chr22:26482043	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90164632.	NM_022081.6(HPS4):c.637G>A (p.Val213Ile) GRCh37: Chr22:26864549 GRCh38: Chr22:26468583	HPS4	V208I, V213I	not provided, Hermansky-Pudlak syndrome 4	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90164533.	NM_022081.6(HPS4):c.680C>T (p.Thr227Met) GRCh37: Chr22:26862218 GRCh38: Chr22:26466252	HPS4	T222M, T227M	not provided, Hermansky-Pudlak syndrome 4	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90159634.	NM_022081.6(HPS4):c.1455G>A (p.Thr485=) GRCh37: Chr22:26860141 GRCh38: Chr22:26464175	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 90153535.	NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) GRCh37: Chr22:26853833 GRCh38: Chr22:26457867	HPS4	M667I, M649I, M644I	not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Sep 25, 2022)	criteria provided, conflicting interpretations
Select item 90153436.	NM_022081.6(HPS4):c.*228A>C GRCh37: Chr22:26848971 GRCh38: Chr22:26453005	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90153337.	NM_022081.6(HPS4):c.*333C>T GRCh37: Chr22:26848866 GRCh38: Chr22:26452900	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90116838.	NM_022081.6(HPS4):c.-18A>G GRCh37: Chr22:26877746 GRCh38: Chr22:26481780	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90109939.	NM_022081.6(HPS4):c.706+10G>A GRCh37: Chr22:26862182 GRCh38: Chr22:26466216	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90104340.	NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) GRCh37: Chr22:26859917 GRCh38: Chr22:26463951	HPS4	P560L, P578L, P555L	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Mar 7, 2023)	criteria provided, conflicting interpretations
Select item 90097341.	NM_022081.6(HPS4):c.*423G>A GRCh37: Chr22:26848776 GRCh38: Chr22:26452810	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90097242.	NM_022081.6(HPS4):c.*469C>T GRCh37: Chr22:26848730 GRCh38: Chr22:26452764	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90097143.	NM_022081.6(HPS4):c.*477C>T GRCh37: Chr22:26848722 GRCh38: Chr22:26452756	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90090844.	NM_022081.6(HPS4):c.*1387T>A GRCh37: Chr22:26847812 GRCh38: Chr22:26451846	HPS4		Hermansky-Pudlak syndrome 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 90090745.	NM_022081.6(HPS4):c.*1528T>G GRCh37: Chr22:26847671 GRCh38: Chr22:26451705	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90007346.	NM_022081.5(HPS4):c.-628C>G GRCh37: Chr22:26879789 GRCh38: Chr22:26483823	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90000447.	NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) GRCh37: Chr22:26877691 GRCh38: Chr22:26481725	HPS4	S13L	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90000348.	NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) GRCh37: Chr22:26875235 GRCh38: Chr22:26479269	HPS4	S38Y, S43Y	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90000249.	NM_022081.6(HPS4):c.133-6C>T GRCh37: Chr22:26873108 GRCh38: Chr22:26477142	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 90000150.	NM_022081.6(HPS4):c.411G>A (p.Thr137=) GRCh37: Chr22:26868358 GRCh38: Chr22:26472392	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Dec 17, 2020)	criteria provided, conflicting interpretations
Select item 89992951.	NM_022081.6(HPS4):c.727G>A (p.Val243Ile) GRCh37: Chr22:26861497 GRCh38: Chr22:26465531	HPS4	V238I, V243I, V261I	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89992852.	NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) GRCh37: Chr22:26860762 GRCh38: Chr22:26464796	HPS4	D296E, D278E, D273E	not provided, Hermansky-Pudlak syndrome 4	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89986653.	NM_022081.6(HPS4):c.1758G>A (p.Leu586=) GRCh37: Chr22:26854499 GRCh38: Chr22:26458533	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89980754.	NM_022081.6(HPS4):c.*769G>A GRCh37: Chr22:26848430 GRCh38: Chr22:26452464	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89980655.	NM_022081.6(HPS4):c.*842G>A GRCh37: Chr22:26848357 GRCh38: Chr22:26452391	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89980556.	NM_022081.6(HPS4):c.*946G>A GRCh37: Chr22:26848253 GRCh38: Chr22:26452287	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89980457.	NM_022081.6(HPS4):c.*1207T>C GRCh37: Chr22:26847992 GRCh38: Chr22:26452026	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89975258.	NM_022081.6(HPS4):c.*1691G>A GRCh37: Chr22:26847508 GRCh38: Chr22:26451542	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 74643859.	NM_022081.6(HPS4):c.741T>A (p.Pro247=) GRCh37: Chr22:26861483 GRCh38: Chr22:26465517	HPS4		not provided, Hermansky-Pudlak syndrome 4	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74069260.	NM_022081.6(HPS4):c.618G>A (p.Pro206=) GRCh37: Chr22:26864568 GRCh38: Chr22:26468602	HPS4		Hermansky-Pudlak syndrome 4, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 73255761.	NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) GRCh37: Chr22:26860200 GRCh38: Chr22:26464234	HPS4	R466C, R461C, R484C	not specified, Hermansky-Pudlak syndrome 4, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 72569862.	NM_022081.6(HPS4):c.706+8G>C GRCh37: Chr22:26862184 GRCh38: Chr22:26466218	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 70899363.	NM_022081.6(HPS4):c.704A>G (p.His235Arg) GRCh37: Chr22:26862194 GRCh38: Chr22:26466228	HPS4	H230R, H235R	not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 50210264.	NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) GRCh37: Chr22:26866728 GRCh38: Chr22:26470762	HPS4	R180C, R185C	Hermansky-Pudlak syndrome 4, not provided	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34103965.	NM_022081.5(HPS4):c.-661G>T GRCh37: Chr22:26879822 GRCh38: Chr22:26483856	HPS4, LOC130067147		Hermansky-Pudlak syndrome 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34103766.	NM_022081.5(HPS4):c.-634C>T GRCh37: Chr22:26879795 GRCh38: Chr22:26483829	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34103667.	NM_022081.5(HPS4):c.-622G>C GRCh37: Chr22:26879783 GRCh38: Chr22:26483817	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34103568.	NM_022081.6(HPS4):c.-585T>G GRCh37: Chr22:26879746 GRCh38: Chr22:26483780	HPS4		Hermansky-Pudlak syndrome 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34103469.	NM_022081.6(HPS4):c.-554C>T GRCh37: Chr22:26879715 GRCh38: Chr22:26483749	HPS4		Hermansky-Pudlak syndrome 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34103270.	NM_022081.6(HPS4):c.-523G>T GRCh37: Chr22:26879684 GRCh38: Chr22:26483718	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34103171.	NM_022081.6(HPS4):c.-479+5G>A GRCh37: Chr22:26879635 GRCh38: Chr22:26483669	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34103072.	NM_022081.6(HPS4):c.-395A>C GRCh37: Chr22:26878123 GRCh38: Chr22:26482157	HPS4		Hermansky-Pudlak syndrome 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34102773.	NM_022081.6(HPS4):c.-185A>G GRCh37: Chr22:26877913 GRCh38: Chr22:26481947	HPS4		Hermansky-Pudlak syndrome 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34102674.	NM_022081.6(HPS4):c.-116C>T GRCh37: Chr22:26877844 GRCh38: Chr22:26481878	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34102575.	NM_022081.6(HPS4):c.-42A>G GRCh37: Chr22:26877770 GRCh38: Chr22:26481804	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34102476.	NM_022081.6(HPS4):c.15C>T (p.Thr5=) GRCh37: Chr22:26877714 GRCh38: Chr22:26481748	HPS4		Hermansky-Pudlak syndrome 4, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34102377.	NM_022081.6(HPS4):c.81G>A (p.Lys27=) GRCh37: Chr22:26875282 GRCh38: Chr22:26479316	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 34102278.	NM_022081.6(HPS4):c.177A>C (p.Gly59=) GRCh37: Chr22:26873058 GRCh38: Chr22:26477092	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34102079.	NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) GRCh37: Chr22:26864578 GRCh38: Chr22:26468612	HPS4	T198I, T203I	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34101980.	NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) GRCh37: Chr22:26864569 GRCh38: Chr22:26468603	HPS4	P201L, P206L	not provided, Hermansky-Pudlak syndrome 4	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34101881.	NM_022081.6(HPS4):c.687G>A (p.Glu229=) GRCh37: Chr22:26862211 GRCh38: Chr22:26466245	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jul 16, 2022)	criteria provided, conflicting interpretations
Select item 34101782.	NM_022081.6(HPS4):c.706+15G>T GRCh37: Chr22:26862177 GRCh38: Chr22:26466211	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34101683.	NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) GRCh37: Chr22:26861473 GRCh38: Chr22:26465507	HPS4	T251S, T246S, T269S	Oculocutaneous albinism, not specified, Hermansky-Pudlak syndrome, not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 34101484.	NM_022081.6(HPS4):c.877C>G (p.Leu293Val) GRCh37: Chr22:26860719 GRCh38: Chr22:26464753	HPS4	L288V, L293V, L311V	Hermansky-Pudlak syndrome 4	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34101385.	NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) GRCh37: Chr22:26860674 GRCh38: Chr22:26464708	HPS4	T303A, T308A, T326A	Hermansky-Pudlak syndrome 4, not provided	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 34101286.	NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) GRCh37: Chr22:26860665 GRCh38: Chr22:26464699	HPS4	P311T, P306T, P329T	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 4	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34101187.	NM_022081.6(HPS4):c.958G>C (p.Asp320His) GRCh37: Chr22:26860638 GRCh38: Chr22:26464672	HPS4	D320H, D315H, D338H	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34101088.	NM_022081.6(HPS4):c.1192A>C (p.Arg398=) GRCh37: Chr22:26860404 GRCh38: Chr22:26464438	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 34100989.	NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) GRCh37: Chr22:26860364 GRCh38: Chr22:26464398	HPS4	S411N, S406N, S429N	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (May 17, 2023)	criteria provided, conflicting interpretations
Select item 34100890.	NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) GRCh37: Chr22:26860117 GRCh38: Chr22:26464151	HPS4	D493E, D488E, D511E	Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34100791.	NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) GRCh37: Chr22:26860061 GRCh38: Chr22:26464095	HPS4	S507L, S512L, S530L	Hermansky-Pudlak syndrome 4, not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34100592.	NM_022081.6(HPS4):c.1641C>T (p.Cys547=) GRCh37: Chr22:26859955 GRCh38: Chr22:26463989	HPS4		Hermansky-Pudlak syndrome 4, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 34100493.	NM_022081.6(HPS4):c.1680G>A (p.Pro560=) GRCh37: Chr22:26859916 GRCh38: Chr22:26463950	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 34100394.	NM_022081.6(HPS4):c.1692C>T (p.Asp564=) GRCh37: Chr22:26859904 GRCh38: Chr22:26463938	HPS4		not provided, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 34100295.	NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) GRCh37: Chr22:26859896 GRCh38: Chr22:26463930	HPS4	A562V, A567V, A585V	not provided, not specified, Hermansky-Pudlak syndrome 4	Conflicting interpretations of pathogenicity (Jun 2, 2023)	criteria provided, conflicting interpretations
Select item 34100196.	NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) GRCh37: Chr22:26854510 GRCh38: Chr22:26458544	HPS4	E578K, E583K, E601K	Hermansky-Pudlak syndrome 4, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 34100097.	NM_022081.6(HPS4):c.1959T>C (p.Asn653=) GRCh37: Chr22:26849367 GRCh38: Chr22:26453401	HPS4	C573R	Hermansky-Pudlak syndrome 4, not provided	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 34099998.	NM_022081.6(HPS4):c.*197G>T GRCh37: Chr22:26849002 GRCh38: Chr22:26453036	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34099899.	NM_022081.6(HPS4):c.*369C>T GRCh37: Chr22:26848830 GRCh38: Chr22:26452864	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 340997100.	NM_022081.6(HPS4):c.*391G>A GRCh37: Chr22:26848808 GRCh38: Chr22:26452842	HPS4		Hermansky-Pudlak syndrome 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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