HPS4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 2368105	NM_020437.5(ASPHD2):c.1019C>T (p.Pro340Leu)	ASPHD2, HPS4 +1 more (P340L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600830	NM_020437.5(ASPHD2):c.1021C>T (p.Arg341Trp)	ASPHD2, HPS4 +1 more (R341W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388908	NM_020437.5(ASPHD2):c.1022G>A (p.Arg341Gln)	ASPHD2, HPS4 +1 more (R341Q)	Single nucleotide variant (missense variant +1 more)	not specified	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 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
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 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 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 340962	NM_022081.6(HPS4):c.*1762G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340963	NM_022081.6(HPS4):c.*1752C>G	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 340964	NM_022081.6(HPS4):c.*1687A>G	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GBenign
Select item 340965	NM_022081.6(HPS4):c.*1613C>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome +1 more	GBenign
Select item 340966	NM_022081.6(HPS4):c.*1594G>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 340967	NM_022081.6(HPS4):c.*1589C>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome +1 more	GLikely benign
Select item 340968	NM_022081.6(HPS4):c.*1576C>T	HPS4	Single nucleotide variant (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
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 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 340969	NM_022081.6(HPS4):c.*1359A>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 340970	NM_022081.6(HPS4):c.*1256C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 340971	NM_022081.6(HPS4):c.*1253G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GLikely benign
Select item 340972	NM_022081.6(HPS4):c.*1250C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GBenign
Select item 340977	NM_022081.6(HPS4):c.*1229CG[5]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340976	NM_022081.6(HPS4):c.*1229CG[4]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GBenign
Select item 340975	NM_022081.6(HPS4):c.*1229CG[6]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340974	NM_022081.6(HPS4):c.*1229CG[7]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340973	NM_022081.6(HPS4):c.*1229CG[8]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome +1 more	GUncertain significance
Select item 340978	NM_022081.6(HPS4):c.1223_1238del	HPS4	Deletion (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome +1 more	GUncertain significance
Select item 340982	NM_022081.6(HPS4):c.1236_1237insTAA	HPS4	Insertion (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340981	NM_022081.6(HPS4):c.*1237C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 340980	NM_022081.6(HPS4):c.1229_1237delinsTGTGT	HPS4	Indel (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340979	NM_022081.6(HPS4):c.1229_1237delinsTGT	HPS4	Indel (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	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 340983	NM_022081.6(HPS4):c.1227_1236del	HPS4	Deletion (3 prime UTR variant +2 more)	not provided +1 more	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 902576	NM_022081.6(HPS4):c.*1233C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 340984	NM_022081.6(HPS4):c.*1231C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome +1 more	GUncertain significance
Select item 340986	NM_022081.6(HPS4):c.*1191TG[20]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340985	NM_022081.6(HPS4):c.*1229C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome +1 more	GUncertain significance
Select item 340988	NM_022081.6(HPS4):c.*1191TG[16]	HPS4	Microsatellite (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 340987	NM_022081.6(HPS4):c.*1191TG[17]	HPS4	Microsatellite (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340991	NM_022081.6(HPS4):c.*1227T>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 340990	NM_022081.6(HPS4):c.1207_1227delinsCGC	HPS4	Indel (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340989	NM_022081.6(HPS4):c.1207_1227delinsC	HPS4	Indel (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 340992	NM_022081.6(HPS4):c.*1225T>C	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	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 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 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 340993	NM_022081.6(HPS4):c.*1120C>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 340994	NM_022081.6(HPS4):c.1024_1028del	HPS4	Deletion (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome	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 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 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 340995	NM_022081.6(HPS4):c.*751G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4 +1 more	GLikely benign
Select item 340996	NM_022081.6(HPS4):c.*515G>C	HPS4	Single nucleotide variant (3 prime UTR 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 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 900973	NM_022081.6(HPS4):c.*423G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 340997	NM_022081.6(HPS4):c.*391G>A	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 340998	NM_022081.6(HPS4):c.*369C>T	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 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 340999	NM_022081.6(HPS4):c.*197G>T	HPS4	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 3052722	NM_022081.6(HPS4):c.*39A>G	HPS4 (K642E)	Single nucleotide variant (3 prime UTR variant +3 more)	HPS4-related disorder	GLikely benign
Select item 194428	NM_022081.6(HPS4):c.*5C>T	HPS4	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1713506	NM_022081.6(HPS4):c.2116A>C (p.Asn706His)	HPS4 (E625A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3014684	NM_022081.6(HPS4):c.2109C>T (p.His703=)	HPS4 (R623W)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 4126	NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs)	HPS4 (E618fs +3 more)	Microsatellite (frameshift variant +2 more)	Hermansky-Pudlak syndrome 4	GPathogenic
Select item 1906207	NM_022081.6(HPS4):c.2091G>A (p.Lys697=)	HPS4 (A617T)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1910402	NM_022081.6(HPS4):c.2089A>G (p.Lys697Glu)	HPS4 (K697E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2758792	NM_022081.6(HPS4):c.2088A>G (p.Ala696=)	HPS4 (K616E)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1967339	NM_022081.6(HPS4):c.2080G>A (p.Gly694Ser)	HPS4 (G689S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 211152	NM_022081.6(HPS4):c.2079C>T (p.Ser693=)	HPS4 (R613W)	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 3014916	NM_022081.6(HPS4):c.2076C>T (p.Leu692=)	HPS4 (L612F)	Single nucleotide variant (synonymous variant +4 more)	not specified +1 more	GLikely benign
Select item 2997251	NM_022081.6(HPS4):c.2073C>T (p.Ser691=)	HPS4 (P611S)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1383152	NM_022081.6(HPS4):c.2065G>A (p.Ala689Thr)	HPS4 (A684T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2969071	NM_022081.6(HPS4):c.2064C>T (p.Gly688=)	HPS4 (R608C)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2866841	NM_022081.6(HPS4):c.2064C>A (p.Gly688=)	HPS4 (R608S)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2767072	NM_022081.6(HPS4):c.2064C>G (p.Gly688=)	HPS4 (R608G)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
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 3106847	NM_022081.6(HPS4):c.2050A>C (p.Asn684His)	HPS4 (N702H +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2720270	NM_022081.6(HPS4):c.2046C>T (p.Phe682=)	HPS4 (P602S)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1512847	NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser)	HPS4 (G699S +3 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 4 +1 more	GUncertain significance
Select item 598656	NM_022081.6(HPS4):c.2040C>T (p.Ser680=)	HPS4 (R600W)	Single nucleotide variant (synonymous variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 1983508	NM_022081.6(HPS4):c.2037C>T (p.Ser679=)	HPS4 (L599F)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 445398	NM_022081.6(HPS4):c.2036G>A (p.Ser679Asn)	HPS4 (S674N +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1606392	NM_022081.6(HPS4):c.2028A>G (p.Ala676=)	HPS4 (S596G)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2788821	NM_022081.6(HPS4):c.2025T>C (p.Pro675=)	HPS4 (C595R)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1361861	NM_022081.6(HPS4):c.2024C>T (p.Pro675Leu)	HPS4 (P693L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1922484	NM_022081.6(HPS4):c.2023C>T (p.Pro675Ser)	HPS4 (P670S +3 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1353806	NM_022081.6(HPS4):c.2020G>T (p.Ala674Ser)	HPS4 (A674S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2819579	NM_022081.6(HPS4):c.2017C>T (p.Leu673=)	HPS4 (A592V)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign

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