Related gene-specific medical variations for Gene (Select 63915) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236053	NM_201280.3(BLOC1S5):c.154del (p.Val52fs)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (V52fs)	Deletion (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 11	GLikely pathogenic
Select item 3134142	NM_201280.3(BLOC1S5):c.545C>T (p.Ala182Val)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (A118V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134141	NM_201280.3(BLOC1S5):c.50G>A (p.Gly17Asp)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (G17D)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134140	NM_201280.3(BLOC1S5):c.25C>T (p.Pro9Ser)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (P9S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134139	NM_201280.3(BLOC1S5):c.251A>G (p.His84Arg)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (H84R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134138	NM_201280.3(BLOC1S5):c.202C>T (p.Arg68Cys)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R68C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3065169	NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1R)	Single nucleotide variant (non-coding transcript variant +3 more)	Hermansky-Pudlak syndrome 11	GPathogenic
Select item 3056960	NM_201280.3(BLOC1S5):c.195+8262A>G	BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	BLOC1S5-related disorder	GLikely benign
Select item 2656218	NM_201280.3(BLOC1S5):c.24C>T (p.Thr8=)	BLOC1S5, BLOC1S5-TXNDC5 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2630117	NM_201280.3(BLOC1S5):c.326-2A>C	BLOC1S5, BLOC1S5-TXNDC5 +1 more	Single nucleotide variant (splice acceptor variant)	BLOC1S5-related disorder	GLikely pathogenic
Select item 2508671	NM_201280.3(BLOC1S5):c.170C>T (p.Thr57Ile)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (T57I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476653	NM_201280.3(BLOC1S5):c.283A>G (p.Arg95Gly)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R95G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2470238	NM_201280.3(BLOC1S5):c.108C>G (p.Ile36Met)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (I36M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468204	NM_201280.3(BLOC1S5):c.58A>G (p.Ser20Gly)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (S20G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2431939	NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E7*)	Single nucleotide variant (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 11	GLikely pathogenic
Select item 2403529	NM_201280.3(BLOC1S5):c.229G>A (p.Glu77Lys)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E13K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355796	NM_201280.3(BLOC1S5):c.373G>C (p.Glu125Gln)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R81S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296686	NM_201280.3(BLOC1S5):c.173G>A (p.Arg58His)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R58H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2276341	NM_201280.3(BLOC1S5):c.503A>G (p.Glu168Gly)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E104G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2264659	NM_201280.3(BLOC1S5):c.295C>T (p.Arg99Trp)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R35W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245541	NM_201280.3(BLOC1S5):c.201A>T (p.Lys67Asn)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (K3N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 996012	NM_201280.2:c.196-678_384+3483del	BLOC1S5	Deletion	Hermansky-Pudlak syndrome 11	GPathogenic
Select item 870631	NM_201280.3(BLOC1S5):c.345del (p.Val116fs)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (Q72fs +2 more)	Deletion (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 813287	GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0	BLOC1S5	Copy number loss	Hermansky-Pudlak syndrome	GPathogenic

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Links from Gene

Items: 24