ClinVar for MedGen (Select 854714) - ClinVar

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Items: 87

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25827681.	NM_024747.6(HPS6):c.1241G>A (p.Arg414Gln) GRCh37: Chr10:103826472 GRCh38: Chr10:102066715	HPS6	R414Q	Hermansky-Pudlak syndrome 6	Uncertain significance (Oct 9, 2023)	no assertion criteria provided
Select item 24407632.	NM_024747.6(HPS6):c.1789del (p.Ala597fs) GRCh37: Chr10:103827015 GRCh38: Chr10:102067258	HPS6	A597fs	Hermansky-Pudlak syndrome 6	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 24407553.	NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter) GRCh37: Chr10:103826367 GRCh38: Chr10:102066610	HPS6	S379*	Hermansky-Pudlak syndrome 6	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 21369284.	NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter) GRCh37: Chr10:103826744 GRCh38: Chr10:102066987	HPS6	Q505*	Hermansky-Pudlak syndrome 6, not provided	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16912385.	NM_024747.6(HPS6):c.1228_1252del (p.Tyr410fs) GRCh37: Chr10:103826450-103826474 GRCh38: Chr10:102066693-102066717	HPS6	Y410fs	not provided	Pathogenic (Jul 7, 2022)	criteria provided, single submitter
Select item 15244716.	NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) GRCh37: Chr10:103827491 GRCh38: Chr10:102067734	HPS6	L754V	Hermansky-Pudlak syndrome 6, not provided	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14927527.	NM_024747.6(HPS6):c.370G>T (p.Gly124Trp) GRCh37: Chr10:103825601 GRCh38: Chr10:102065844	HPS6	G124W	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14920678.	NM_024747.6(HPS6):c.7C>T (p.Arg3Cys) GRCh37: Chr10:103825238 GRCh38: Chr10:102065481	LOC130004578, HPS6	R3C	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 14552099.	NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter) GRCh37: Chr10:103827050 GRCh38: Chr10:102067293	HPS6	R607*	not provided, Hermansky-Pudlak syndrome 6	Pathogenic/Likely pathogenic (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144360010.	NM_024747.6(HPS6):c.466_475dup (p.Phe159fs) GRCh37: Chr10:103825696-103825697 GRCh38: Chr10:102065939-102065940	HPS6	F159fs	not provided	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 143846811.	NM_024747.6(HPS6):c.1417G>A (p.Val473Met) GRCh37: Chr10:103826648 GRCh38: Chr10:102066891	HPS6	V473M	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136979312.	NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys) GRCh37: Chr10:103827275 GRCh38: Chr10:102067518	HPS6	R682C	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132749413.	NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs) GRCh37: Chr10:103826297-103826298 GRCh38: Chr10:102066540-102066541	HPS6	L356fs	Hermansky-Pudlak syndrome 6	not provided	no assertion provided
Select item 132306714.	NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) GRCh37: Chr10:103826642 GRCh38: Chr10:102066885	HPS6	Q471*	Hermansky-Pudlak syndrome 6	Pathogenic (Feb 1, 2019)	criteria provided, single submitter
Select item 121021415.	NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) GRCh37: Chr10:103826261 GRCh38: Chr10:102066504	HPS6	E344*	Hermansky-Pudlak syndrome 6	Pathogenic	criteria provided, single submitter
Select item 105056316.	NM_024747.6(HPS6):c.206_210dup (p.Trp71fs) GRCh37: Chr10:103825435-103825436 GRCh38: Chr10:102065678-102065679	HPS6, LOC130004578	W71fs	Hermansky-Pudlak syndrome 6	Likely pathogenic	no assertion criteria provided
Select item 102992117.	NM_024747.6(HPS6):c.1360A>G (p.Met454Val) GRCh37: Chr10:103826591 GRCh38: Chr10:102066834	HPS6	M454V	Inborn genetic diseases, Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99636718.	NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) GRCh37: Chr10:103826963 GRCh38: Chr10:102067206	HPS6	R578*	Hermansky-Pudlak syndrome 6	Likely pathogenic (Nov 13, 2020)	no assertion criteria provided
Select item 99636619.	NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) GRCh37: Chr10:103825566 GRCh38: Chr10:102065809	HPS6	W112*	Hermansky-Pudlak syndrome 6	Likely pathogenic (Nov 13, 2020)	no assertion criteria provided
Select item 99636520.	NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) GRCh37: Chr10:103827230 GRCh38: Chr10:102067473	HPS6	R667*	not provided	Likely pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 88043821.	NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) GRCh37: Chr10:103827182 GRCh38: Chr10:102067425	HPS6	R651W	not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 88043722.	NM_024747.6(HPS6):c.1810C>G (p.Leu604Val) GRCh37: Chr10:103827041 GRCh38: Chr10:102067284	HPS6	L604V	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88043623.	NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp) GRCh37: Chr10:103826986 GRCh38: Chr10:102067229	HPS6	E585D	Hermansky-Pudlak syndrome 6, Inborn genetic diseases, not provided	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88043524.	NM_024747.6(HPS6):c.1692C>A (p.Pro564=) GRCh37: Chr10:103826923 GRCh38: Chr10:102067166	HPS6		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88043425.	NM_024747.6(HPS6):c.1679G>T (p.Gly560Val) GRCh37: Chr10:103826910 GRCh38: Chr10:102067153	HPS6	G560V	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88039626.	NM_024747.6(HPS6):c.277G>T (p.Val93Leu) GRCh37: Chr10:103825508 GRCh38: Chr10:102065751	HPS6, LOC130004578	V93L	not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Jan 21, 2022)	criteria provided, conflicting interpretations
Select item 88039527.	NM_024747.6(HPS6):c.-5G>A GRCh37: Chr10:103825227 GRCh38: Chr10:102065470	HPS6, LOC130004578		Hermansky-Pudlak syndrome 6, not specified	Uncertain significance (Jun 10, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87925028.	NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala) GRCh37: Chr10:103826661 GRCh38: Chr10:102066904	HPS6	D477A	Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87924929.	NM_024747.6(HPS6):c.1363T>C (p.Leu455=) GRCh37: Chr10:103826594 GRCh38: Chr10:102066837	HPS6		not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 87924830.	NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) GRCh37: Chr10:103826577 GRCh38: Chr10:102066820	HPS6	S449C	Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87924731.	NM_024747.6(HPS6):c.1253G>T (p.Gly418Val) GRCh37: Chr10:103826484 GRCh38: Chr10:102066727	HPS6	G418V	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87924632.	NM_024747.6(HPS6):c.1152T>C (p.Phe384=) GRCh37: Chr10:103826383 GRCh38: Chr10:102066626	HPS6		not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 87869833.	NM_024747.6(HPS6):c.2323C>G (p.Leu775Val) GRCh37: Chr10:103827554 GRCh38: Chr10:102067797	HPS6	L775V	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87865034.	NM_024747.6(HPS6):c.1127G>A (p.Arg376His) GRCh37: Chr10:103826358 GRCh38: Chr10:102066601	HPS6	R376H	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87864935.	NM_024747.6(HPS6):c.1035G>A (p.Arg345=) GRCh37: Chr10:103826266 GRCh38: Chr10:102066509	HPS6		not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 87864836.	NM_024747.6(HPS6):c.831C>G (p.Pro277=) GRCh37: Chr10:103826062 GRCh38: Chr10:102066305	HPS6		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87864737.	NM_024747.6(HPS6):c.732A>G (p.Gly244=) GRCh37: Chr10:103825963 GRCh38: Chr10:102066206	HPS6		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87768038.	NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr) GRCh37: Chr10:103827485 GRCh38: Chr10:102067728	HPS6	P752T	Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87767939.	NM_024747.6(HPS6):c.2166C>T (p.Phe722=) GRCh37: Chr10:103827397 GRCh38: Chr10:102067640	HPS6		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87767840.	NM_024747.6(HPS6):c.2112C>T (p.Leu704=) GRCh37: Chr10:103827343 GRCh38: Chr10:102067586	HPS6		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87767741.	NM_024747.6(HPS6):c.2045G>A (p.Arg682His) GRCh37: Chr10:103827276 GRCh38: Chr10:102067519	HPS6	R682H	Hermansky-Pudlak syndrome 6, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87767642.	NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) GRCh37: Chr10:103827260 GRCh38: Chr10:102067503	HPS6	E677K	Hermansky-Pudlak syndrome 6, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 87763643.	NM_024747.6(HPS6):c.634G>A (p.Val212Met) GRCh37: Chr10:103825865 GRCh38: Chr10:102066108	HPS6	V212M	Hermansky-Pudlak syndrome 6, not provided	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87763544.	NM_024747.6(HPS6):c.303C>T (p.Ala101=) GRCh37: Chr10:103825534 GRCh38: Chr10:102065777	HPS6		not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 81273045.	NM_024747.6(HPS6):c.1A>G (p.Met1Val) GRCh37: Chr10:103825232 GRCh38: Chr10:102065475	HPS6, LOC130004578	M1V	not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74013846.	NM_024747.6(HPS6):c.1692C>T (p.Pro564=) GRCh37: Chr10:103826923 GRCh38: Chr10:102067166	HPS6		Hermansky-Pudlak syndrome 6, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62712247.	NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) GRCh37: Chr10:103825923 GRCh38: Chr10:102066166	HPS6	P231R	HPS6-related condition, Hermansky-Pudlak syndrome 6, not provided, Storage pool disease of platelets	Uncertain significance (Jul 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62336648.	NM_024747.6(HPS6):c.19_20del (p.Leu7fs) GRCh37: Chr10:103825248-103825249 GRCh38: Chr10:102065491-102065492	HPS6, LOC130004578	L7fs	Hermansky-Pudlak syndrome 6	Likely pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 50268649.	NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) GRCh37: Chr10:103826291 GRCh38: Chr10:102066534	HPS6	H354Y	not specified, not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 43546550.	NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) GRCh37: Chr10:103826942-103826943 GRCh38: Chr10:102067185-102067186	HPS6	C571*	not provided, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43546451.	NM_024747.6(HPS6):c.1693T>G (p.Phe565Val) GRCh37: Chr10:103826924 GRCh38: Chr10:102067167	HPS6	F565V	Hermansky-Pudlak syndrome 6	Likely pathogenic (Dec 5, 2016)	criteria provided, single submitter
Select item 43546352.	NM_024747.6(HPS6):c.254C>T (p.Pro85Leu) GRCh37: Chr10:103825485 GRCh38: Chr10:102065728	HPS6, LOC130004578	P85L	not specified, not provided, Hermansky-Pudlak syndrome 6	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43546153.	NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) GRCh37: Chr10:103825772 GRCh38: Chr10:102066015	HPS6	T181A	Hermansky-Pudlak syndrome 6, not provided, not specified	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 43105154.	NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter) GRCh37: Chr10:103827269 GRCh38: Chr10:102067512	HPS6	Q680*	Hermansky-Pudlak syndrome 6	Pathogenic (Jul 28, 2017)	no assertion criteria provided
Select item 43105055.	NM_024747.6(HPS6):c.1898del (p.Pro633fs) GRCh37: Chr10:103827128 GRCh38: Chr10:102067371	HPS6	P633fs	Hermansky-Pudlak syndrome 6	Pathogenic (Jul 28, 2017)	no assertion criteria provided
Select item 29856256.	NM_024747.6(HPS6):c.2307G>A (p.Pro769=) GRCh37: Chr10:103827538 GRCh38: Chr10:102067781	HPS6		not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 29856157.	NM_024747.6(HPS6):c.2231G>T (p.Gly744Val) GRCh37: Chr10:103827462 GRCh38: Chr10:102067705	HPS6	G744V	not provided, Hermansky-Pudlak syndrome 6, Inborn genetic diseases	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29856058.	NM_024747.6(HPS6):c.2181A>G (p.Ala727=) GRCh37: Chr10:103827412 GRCh38: Chr10:102067655	HPS6		not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 29855959.	NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly) GRCh37: Chr10:103826837 GRCh38: Chr10:102067080	HPS6	R536G	not provided, Hermansky-Pudlak syndrome 6, Inborn genetic diseases	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29855860.	NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn) GRCh37: Chr10:103826432 GRCh38: Chr10:102066675	HPS6	D401N	Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29855761.	NM_024747.6(HPS6):c.1181T>C (p.Val394Ala) GRCh37: Chr10:103826412 GRCh38: Chr10:102066655	HPS6	V394A	Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29855662.	NM_024747.6(HPS6):c.1039G>A (p.Val347Ile) GRCh37: Chr10:103826270 GRCh38: Chr10:102066513	HPS6	V347I	not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 29855563.	NM_024747.6(HPS6):c.727C>A (p.Pro243Thr) GRCh37: Chr10:103825958 GRCh38: Chr10:102066201	HPS6	P243T	Hermansky-Pudlak syndrome 6, not provided	Uncertain significance (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29855464.	NM_024747.6(HPS6):c.398C>T (p.Ala133Val) GRCh37: Chr10:103825629 GRCh38: Chr10:102065872	HPS6	A133V	not provided, Hermansky-Pudlak syndrome 6	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29855365.	NM_024747.6(HPS6):c.298C>T (p.Leu100=) GRCh37: Chr10:103825529 GRCh38: Chr10:102065772	HPS6		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29855266.	NM_024747.6(HPS6):c.194C>G (p.Ala65Gly) GRCh37: Chr10:103825425 GRCh38: Chr10:102065668	HPS6, LOC130004578	A65G	Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29855167.	NM_024747.6(HPS6):c.138G>A (p.Leu46=) GRCh37: Chr10:103825369 GRCh38: Chr10:102065612	HPS6, LOC130004578		Hermansky-Pudlak syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29855068.	NM_024747.6(HPS6):c.112C>G (p.Pro38Ala) GRCh37: Chr10:103825343 GRCh38: Chr10:102065586	HPS6, LOC130004578	P38A	Hermansky-Pudlak syndrome 6, not provided	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 28649569.	NM_024747.6(HPS6):c.105T>C (p.Arg35=) GRCh37: Chr10:103825336 GRCh38: Chr10:102065579	LOC130004578, HPS6		not specified, not provided, Hermansky-Pudlak syndrome 6	Benign/Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28420070.	NM_024747.6(HPS6):c.444C>G (p.Ala148=) GRCh37: Chr10:103825675 GRCh38: Chr10:102065918	HPS6		not specified, not provided, Hermansky-Pudlak syndrome 6	Benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28256671.	NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) GRCh37: Chr10:103825568 GRCh38: Chr10:102065811	HPS6	R113W	not specified, not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Dec 15, 2022)	criteria provided, conflicting interpretations
Select item 28222272.	NM_024747.6(HPS6):c.1779G>A (p.Pro593=) GRCh37: Chr10:103827010 GRCh38: Chr10:102067253	HPS6		not specified, not provided, Hermansky-Pudlak syndrome 6	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26176573.	NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) GRCh37: Chr10:103825863 GRCh38: Chr10:102066106	HPS6	G211A	not provided, not specified, Hermansky-Pudlak syndrome 6	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26176374.	NM_024747.6(HPS6):c.1764G>A (p.Gln588=) GRCh37: Chr10:103826995 GRCh38: Chr10:102067238	HPS6		not specified, not provided, Hermansky-Pudlak syndrome 6	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26176175.	NM_024747.6(HPS6):c.*178T>G GRCh37: Chr10:103827737 GRCh38: Chr10:102067980	HPS6		not specified, not provided, Hermansky-Pudlak syndrome 6	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 21115576.	NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) GRCh37: Chr10:103825929 GRCh38: Chr10:102066172	HPS6	L233R	not specified, not provided, Hermansky-Pudlak syndrome 6	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20858677.	NM_024747.6(HPS6):c.238dup (p.Asp80fs) GRCh37: Chr10:103825467-103825468 GRCh38: Chr10:102065710-102065711	HPS6, LOC130004578	D80fs	Hermansky-Pudlak syndrome, not provided, Hermansky-Pudlak syndrome 6	Conflicting interpretations of pathogenicity (Feb 3, 2022)	criteria provided, conflicting interpretations
Select item 16368378.	NM_024747.6(HPS6):c.516G>A (p.Gly172=) GRCh37: Chr10:103825747 GRCh38: Chr10:102065990	HPS6		not specified, not provided, Hermansky-Pudlak syndrome 6	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16368079.	NM_024747.6(HPS6):c.99A>G (p.Arg33=) GRCh37: Chr10:103825330 GRCh38: Chr10:102065573	HPS6, LOC130004578		Hermansky-Pudlak syndrome 6, not provided, not specified	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4097280.	nsv1067844 GRCh37: Chr5:103822591-103842542 GRCh38: Chr5:104486890-104506841			Hermansky-Pudlak syndrome 6	Pathogenic (Oct 11, 2012)	no assertion criteria provided
Select item 3067781.	NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) GRCh37: Chr10:103826465 GRCh38: Chr10:102066708	HPS6	Q412*	not provided	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 3067682.	NM_024747.6(HPS6):c.223C>T (p.Gln75Ter) GRCh37: Chr10:103825454 GRCh38: Chr10:102065697	HPS6, LOC130004578	Q75*	not provided	Pathogenic (Aug 5, 2021)	criteria provided, single submitter
Select item 3067583.	NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) GRCh37: Chr10:103826046 GRCh38: Chr10:102066289	HPS6	T272I	not specified	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 3067384.	NM_024747.6(HPS6):c.913C>T (p.Gln305Ter) GRCh37: Chr10:103826144 GRCh38: Chr10:102066387	HPS6	Q305*	not provided	Pathogenic (Jul 21, 2021)	criteria provided, single submitter
Select item 3067285.	NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs) GRCh37: Chr10:103827096-103827097 GRCh38: Chr10:102067339-102067340	HPS6	L622fs	Hermansky-Pudlak syndrome 6	Pathogenic (Dec 1, 2009)	no assertion criteria provided
Select item 3067186.	NM_024747.6(HPS6):c.1065dup (p.Leu356fs) GRCh37: Chr10:103826295-103826296 GRCh38: Chr10:102066538-102066539	HPS6	L356fs	Hermansky-Pudlak syndrome 6	Pathogenic (Jul 28, 2017)	no assertion criteria provided
Select item 315187.	NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) GRCh37: Chr10:103826942-103826945 GRCh38: Chr10:102067185-102067188	HPS6	L572fs	Hermansky-Pudlak syndrome 6	Pathogenic (Feb 1, 2003)	no assertion criteria provided

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Items: 87