Related gene-specific medical variations for Gene (Select 89781) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2600830	NM_020437.5(ASPHD2):c.1021C>T (p.Arg341Trp)	ASPHD2, HPS4 +1 more (R341W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2368105	NM_020437.5(ASPHD2):c.1019C>T (p.Pro340Leu)	ASPHD2, HPS4 +1 more (P340L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 987415	NM_022081.6(HPS4):c.554dup (p.Ser186fs)	HPS4 (S181fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 559533	NM_022081.6(HPS4):c.1102dup (p.Asp368fs)	HPS4 (D386fs +2 more)	Duplication (frameshift variant +1 more)	Interstitial lung disease 2	GUncertain significance
Select item 341040	NM_022081.5(HPS4):c.-662G>T	HPS4, LOC130067147	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome	GBenign
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 341038	NM_022081.5(HPS4):c.-660C>T	HPS4, LOC130067147	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 261534	NM_022081.6(HPS4):c.1956-32T>C	HPS4	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 32