ClinVar for MedGen (Select 483344) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690890	NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)	HPS4 (A552G +2 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 2676137	NM_022081.6(HPS4):c.834_865del (p.Asp278fs)	HPS4 (D273fs +2 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676136	NM_022081.6(HPS4):c.669+1G>A	HPS4	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676135	NM_022081.6(HPS4):c.42-2A>G	HPS4 (R9G)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676134	NM_022081.6(HPS4):c.42-2A>C	HPS4	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676133	NM_022081.6(HPS4):c.132+1G>A	HPS4	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676132	NM_022081.6(HPS4):c.673_686del	HPS4	Deletion	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676131	NM_022081.6(HPS4):c.41+1_41+3del	HPS4	Microsatellite (splice donor variant)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676129	NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)	HPS4 (Q277* +2 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676128	NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)	HPS4 (E249fs +2 more)	Microsatellite (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676127	NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)	HPS4 (Q620* +2 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676126	NM_022081.6(HPS4):c.412del (p.Glu138fs)	HPS4 (E133fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676125	NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)	HPS4 (E439* +2 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2676124	NM_022081.6(HPS4):c.502-2A>T	HPS4	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676123	NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)	HPS4 (Q637* +2 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676122	NM_022081.6(HPS4):c.133-2A>G	HPS4	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 4 +1 more	GLikely pathogenic
Select item 2676121	NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)	HPS4 (Q359* +2 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676120	NM_022081.6(HPS4):c.1156del (p.His386fs)	HPS4 (H381fs +2 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676119	NM_022081.6(HPS4):c.446del (p.Asn149fs)	HPS4 (N144fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676118	NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)	HPS4 (R73* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676117	NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)	HPS4	Deletion (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676116	NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)	HPS4 (K101* +1 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676115	NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)	HPS4 (L465* +2 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676114	NM_022081.6(HPS4):c.348dup (p.Asn117Ter)	HPS4 (N112* +1 more)	Duplication (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2676113	NM_022081.6(HPS4):c.133-1G>A	HPS4	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2584990	NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)	HPS4 (E139* +1 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 2502839	NM_022081.6(HPS4):c.133-2A>T	HPS4	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 2413185	NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)	HPS4 (L585fs +2 more)	Deletion (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2412668	NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)	HPS4 (Y114* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2412667	NM_022081.6(HPS4):c.554G>A (p.Arg185His)	HPS4 (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related condition +1 more	GUncertain significance
Select item 2412666	NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)	HPS4 (Q511* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2138424	NM_022081.6(HPS4):c.47del (p.Asn16fs)	HPS4 (N11fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 1691237	NM_022081.6(HPS4):c.272T>C (p.Leu91Pro)	HPS4 (L86P +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 1684588	NM_022081.6(HPS4):c.502-1G>A	HPS4	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely pathogenic
Select item 1684417	NM_022081.6(HPS4):c.2054del (p.Pro685fs)	HPS4 (P680fs +3 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 4	GPathogenic/Likely pathogenic
Select item 1512847	NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser)	HPS4 (G699S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1502857	NM_022081.6(HPS4):c.384+1G>A	HPS4	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 1455295	NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs)	HPS4 (L363fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323066	NM_022081.6(HPS4):c.1152del (p.Gly385fs)	HPS4 (G380fs +2 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4	GPathogenic
Select item 1204924	NM_022081.6(HPS4):c.706+1G>A	HPS4	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 986036	NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs)	HPS4 (A652fs +3 more)	Duplication (frameshift variant +2 more)	Hermansky-Pudlak syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 903601	NM_022081.6(HPS4):c.437T>C (p.Ile146Thr)	HPS4 (I146T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 903600	NM_022081.6(HPS4):c.570C>T (p.Leu190=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 903599	NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)	HPS4 (G198E +1 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 903531	NM_022081.6(HPS4):c.930T>C (p.Asp310=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903530	NM_022081.6(HPS4):c.1014C>T (p.Pro338=)	HPS4	Single nucleotide variant (non-coding transcript variant +1 more)	HPS4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 903473	NM_022081.6(HPS4):c.1897G>A (p.Val633Ile)	HPS4 (V628I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 903426	NM_022081.6(HPS4):c.*1209T>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 903425	NM_022081.6(HPS4):c.*1223T>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 903364	NM_022081.6(HPS4):c.*1850G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GLikely benign
Select item 903363	NM_022081.6(HPS4):c.*1962C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GBenign
Select item 903362	NM_022081.6(HPS4):c.*2171C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 903361	NM_022081.6(HPS4):c.*2269A>G	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GBenign
Select item 902628	NM_022081.6(HPS4):c.-568T>A	HPS4	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 902576	NM_022081.6(HPS4):c.*1233C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 902575	NM_022081.6(HPS4):c.*1235C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 902574	NM_022081.6(HPS4):c.*1236G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901718	NM_022081.6(HPS4):c.-317G>A	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901717	NM_022081.6(HPS4):c.-312C>T	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901716	NM_022081.6(HPS4):c.-281A>G	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901646	NM_022081.6(HPS4):c.637G>A (p.Val213Ile)	HPS4 (V208I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 901645	NM_022081.6(HPS4):c.680C>T (p.Thr227Met)	HPS4 (T222M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 901596	NM_022081.6(HPS4):c.1455G>A (p.Thr485=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901535	NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)	HPS4 (M667I +2 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 901534	NM_022081.6(HPS4):c.*228A>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901533	NM_022081.6(HPS4):c.*333C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901168	NM_022081.6(HPS4):c.-18A>G	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901099	NM_022081.6(HPS4):c.706+10G>A	HPS4	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 901043	NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)	HPS4 (P560L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 900973	NM_022081.6(HPS4):c.*423G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900972	NM_022081.6(HPS4):c.*469C>T	HPS4	Single nucleotide variant (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900971	NM_022081.6(HPS4):c.*477C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900908	NM_022081.6(HPS4):c.*1387T>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GBenign
Select item 900907	NM_022081.6(HPS4):c.*1528T>G	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900073	NM_022081.5(HPS4):c.-628C>G	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900004	NM_022081.6(HPS4):c.38C>T (p.Ser13Leu)	HPS4 (S13L)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900003	NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr)	HPS4 (S38Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 900002	NM_022081.6(HPS4):c.133-6C>T	HPS4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900001	NM_022081.6(HPS4):c.411G>A (p.Thr137=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899929	NM_022081.6(HPS4):c.727G>A (p.Val243Ile)	HPS4 (V238I +2 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 899928	NM_022081.6(HPS4):c.834T>A (p.Asp278Glu)	HPS4 (D296E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 899866	NM_022081.6(HPS4):c.1758G>A (p.Leu586=)	HPS4	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899807	NM_022081.6(HPS4):c.*769G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 899806	NM_022081.6(HPS4):c.*842G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 899805	NM_022081.6(HPS4):c.*946G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 899804	NM_022081.6(HPS4):c.*1207T>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 899752	NM_022081.6(HPS4):c.*1691G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 746438	NM_022081.6(HPS4):c.741T>A (p.Pro247=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 740692	NM_022081.6(HPS4):c.618G>A (p.Pro206=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732557	NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)	HPS4 (R466C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 725698	NM_022081.6(HPS4):c.706+8G>C	HPS4	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 708993	NM_022081.6(HPS4):c.704A>G (p.His235Arg)	HPS4 (H230R +1 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 593813	NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)	HPS4 (Q45* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 502102	NM_022081.6(HPS4):c.553C>T (p.Arg185Cys)	HPS4 (R180C +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GUncertain significance
Select item 341039	NM_022081.5(HPS4):c.-661G>T	HPS4, LOC130067147	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely benign
Select item 341037	NM_022081.5(HPS4):c.-634C>T	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 341036	NM_022081.5(HPS4):c.-622G>C	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 341035	NM_022081.6(HPS4):c.-585T>G	HPS4	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 4	GLikely benign
Select item 341034	NM_022081.6(HPS4):c.-554C>T	HPS4	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GBenign
Select item 341032	NM_022081.6(HPS4):c.-523G>T	HPS4	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance

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