ClinVar for Gene (Select 63915) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261082	NM_201280.3(BLOC1S5):c.289A>G (p.Thr97Ala)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (T33A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3261081	NM_201280.3(BLOC1S5):c.26C>T (p.Pro9Leu)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (P9L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3261080	NM_201280.3(BLOC1S5):c.526G>C (p.Glu176Gln)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E176Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
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 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 996012	NM_201280.2:c.196-678_384+3483del	BLOC1S5	Deletion	Hermansky-Pudlak syndrome 11	GPathogenic
Select item 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
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 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 813287	GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0	BLOC1S5	Copy number loss	Hermansky-Pudlak syndrome	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58