C0079504[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627248	NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)	HPS3 (Y5*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 626984	NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)	HPS3 (E42*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 627005	NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)	HPS3 (M503I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome +1 more	GLikely pathogenic
Select item 812964	NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)	HPS3 (E459* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 627283	NM_032383.5(HPS3):c.2463dup (p.Arg822fs)	CP, HPS3 (R657fs +1 more)	Duplication (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 627049	NM_032383.5(HPS3):c.2814dup (p.Leu939fs)	CP, HPS3 (L774fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 626951	NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)	DTNBP1 (E259fs +3 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
Select item 5279	NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	HPS1 (E666* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 627174	NM_000195.5(HPS1):c.1857+2T>C	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome +3 more	GPathogenic/Likely pathogenic
Select item 21097	NM_000195.5(HPS1):c.1744-2A>C	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 812729	NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	HPS1 (F421L +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 21091	NM_000195.5(HPS1):c.1189del (p.Gln397fs)	HPS1 (Q241fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 626969	NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	HPS1 (P366T +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 627179	NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)	HPS1 (E172G +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 627011	NM_024747.6(HPS6):c.155del (p.Val52fs)	HPS6, LOC130004578 (V52fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 208586	NM_024747.6(HPS6):c.238dup (p.Asp80fs)	HPS6, LOC130004578 (D80fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
Select item 595731	NM_024747.6(HPS6):c.283del (p.Val95fs)	HPS6, LOC130004578 (V95fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 627362	NM_024747.6(HPS6):c.706_707del (p.Ser236fs)	HPS6 (S236fs)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 627382	NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)	HPS6 (G260E)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome	GPathogenic/Likely pathogenic
Select item 627003	NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg)	HPS6 (G500R)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 627255	NM_024747.6(HPS6):c.1624del (p.Asp542fs)	HPS6 (D542fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome	GPathogenic
Select item 627257	NM_024747.6(HPS6):c.1649del (p.Gly550fs)	HPS6 (G550fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 280536	NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	HPS5 (C879fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 627045	NM_181507.2(HPS5):c.2718-12A>G	HPS5	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 627032	NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter)	HPS5 (S679* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome +1 more	GPathogenic/Likely pathogenic
Select item 431164	NM_181507.2(HPS5):c.1423del (p.Leu475fs)	HPS5 (L361fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 627333	NM_181507.2(HPS5):c.543del (p.Gln181fs)	HPS5 (Q181fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 627065	NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)	BLOC1S3	Duplication (inframe_insertion)	Hermansky-Pudlak syndrome	GUncertain significance

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Items: 29