BLOC1S5-TXNDC5[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 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 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	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 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
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 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	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 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	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 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	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 2338419	NM_030810.5(TXNDC5):c.1278C>A (p.Ser426Arg)	BLOC1S5-TXNDC5, LOC126859578 +1 more (S318R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2375469	NM_030810.5(TXNDC5):c.1264C>T (p.Arg422Cys)	BLOC1S5-TXNDC5, LOC126859578 +1 more (R314C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2410333	NM_030810.5(TXNDC5):c.1253A>G (p.Asp418Gly)	BLOC1S5-TXNDC5, LOC126859578 +1 more (D310G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 780037	NM_030810.5(TXNDC5):c.1208G>A (p.Arg403Gln)	BLOC1S5-TXNDC5, LOC126859578 +1 more (R295Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3330384	NM_030810.5(TXNDC5):c.1198T>G (p.Leu400Val)	BLOC1S5-TXNDC5, LOC126859578 +1 more (L292V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3330382	NM_030810.5(TXNDC5):c.1193C>T (p.Thr398Met)	BLOC1S5-TXNDC5, LOC126859578 +1 more (T398M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527860	NM_030810.5(TXNDC5):c.1147G>C (p.Ala383Pro)	BLOC1S5-TXNDC5, TXNDC5 (A383P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3185182	NM_030810.5(TXNDC5):c.1070C>G (p.Ala357Gly)	BLOC1S5-TXNDC5, TXNDC5 (A249G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522166	NM_030810.5(TXNDC5):c.958G>A (p.Asp320Asn)	BLOC1S5-TXNDC5, TXNDC5 (D320N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3185190	NM_030810.5(TXNDC5):c.955G>T (p.Ala319Ser)	BLOC1S5-TXNDC5, TXNDC5 (A211S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522165	NM_030810.5(TXNDC5):c.952G>A (p.Glu318Lys)	BLOC1S5-TXNDC5, TXNDC5 (E318K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3330381	NM_030810.5(TXNDC5):c.946G>A (p.Glu316Lys)	BLOC1S5-TXNDC5, TXNDC5 (E208K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2615745	NM_030810.5(TXNDC5):c.932C>T (p.Pro311Leu)	BLOC1S5-TXNDC5, TXNDC5 (P203L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2597236	NM_030810.5(TXNDC5):c.875C>T (p.Ser292Leu)	BLOC1S5-TXNDC5, TXNDC5 (S184L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3348735	NM_030810.5(TXNDC5):c.808G>T (p.Asp270Tyr)	BLOC1S5-TXNDC5, TXNDC5 (D162Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	TXNDC5-related condition	GUncertain significance
Select item 2301394	NM_030810.5(TXNDC5):c.750C>G (p.His250Gln)	TXNDC5, BLOC1S5-TXNDC5 (H142Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3185189	NM_030810.5(TXNDC5):c.713A>T (p.Glu238Val)	BLOC1S5-TXNDC5, TXNDC5 (E130V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356091	NM_030810.5(TXNDC5):c.712G>A (p.Glu238Lys)	BLOC1S5-TXNDC5, TXNDC5 (E130K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3185188	NM_030810.5(TXNDC5):c.644C>T (p.Pro215Leu)	BLOC1S5-TXNDC5, TXNDC5 (P107L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3330380	NM_030810.5(TXNDC5):c.619G>A (p.Asp207Asn)	BLOC1S5-TXNDC5, TXNDC5 (D207N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3185186	NM_030810.5(TXNDC5):c.547A>G (p.Ser183Gly)	BLOC1S5-TXNDC5, TXNDC5 (S75G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3330383	NM_030810.5(TXNDC5):c.507C>G (p.Asn169Lys)	BLOC1S5-TXNDC5, TXNDC5 (N169K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3185185	NM_030810.5(TXNDC5):c.464G>A (p.Arg155Gln)	BLOC1S5-TXNDC5, TXNDC5 (R47Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2605354	NM_030810.5(TXNDC5):c.455A>G (p.Gln152Arg)	BLOC1S5-TXNDC5, TXNDC5 (Q44R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2656217	NM_030810.5(TXNDC5):c.375C>T (p.Ser125=)	BLOC1S5-TXNDC5, TXNDC5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2252508	NM_030810.5(TXNDC5):c.313A>C (p.Lys105Gln)	BLOC1S5-TXNDC5, TXNDC5 (K105Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2481743	NM_030810.5(TXNDC5):c.305T>G (p.Leu102Arg)	BLOC1S5-TXNDC5, TXNDC5 (L102R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2293834	NM_030810.5(TXNDC5):c.295T>C (p.Trp99Arg)	BLOC1S5-TXNDC5, TXNDC5 (W99R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2344509	NM_030810.5(TXNDC5):c.281G>A (p.Arg94Gln)	BLOC1S5-TXNDC5, TXNDC5 (R94Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3185184	NM_030810.5(TXNDC5):c.271C>G (p.His91Asp)	BLOC1S5-TXNDC5, TXNDC5 (H91D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2529989	NM_030810.5(TXNDC5):c.232G>A (p.Ala78Thr)	BLOC1S5-TXNDC5, TXNDC5 (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515639	NM_030810.5(TXNDC5):c.189G>T (p.Lys63Asn)	BLOC1S5-TXNDC5, TXNDC5 (K63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346025	NM_030810.5(TXNDC5):c.179C>T (p.Pro60Leu)	BLOC1S5-TXNDC5, TXNDC5 (P60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594491	NM_030810.5(TXNDC5):c.142G>C (p.Gly48Arg)	BLOC1S5-TXNDC5, TXNDC5 (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289430	NM_030810.5(TXNDC5):c.95G>A (p.Gly32Glu)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396239	NM_030810.5(TXNDC5):c.74T>A (p.Leu25Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253671	NM_030810.5(TXNDC5):c.71T>A (p.Leu24Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396238	NM_030810.5(TXNDC5):c.68T>A (p.Leu23Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396237	NM_030810.5(TXNDC5):c.65T>A (p.Leu22Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396236	NM_030810.5(TXNDC5):c.62T>A (p.Leu21Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349946	NM_030810.5(TXNDC5):c.29C>G (p.Pro10Arg)	BLOC1S5-TXNDC5, LOC129995724 +1 more (P10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208184	NM_030810.5(TXNDC5):c.22C>T (p.Leu8Phe)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284505	NM_030810.5(TXNDC5):c.19C>G (p.Arg7Gly)	BLOC1S5-TXNDC5, LOC129995724 +1 more (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185183	NM_030810.5(TXNDC5):c.17G>A (p.Gly6Glu)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400116	NM_030810.5(TXNDC5):c.16G>A (p.Gly6Arg)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332506	NM_030810.5(TXNDC5):c.4C>T (p.Pro2Ser)	BLOC1S5-TXNDC5, LOC129995724 +1 more (P2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 11 +1 more	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 86