TAPBPL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 2248327	NM_018009.5(TAPBPL):c.65A>G (p.Lys22Arg)	TAPBPL (K22R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3173822	NM_018009.5(TAPBPL):c.79G>A (p.Glu27Lys)	TAPBPL (E27K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393666	NM_018009.5(TAPBPL):c.282C>G (p.Ile94Met)	TAPBPL (I94M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2554272	NM_018009.5(TAPBPL):c.284T>C (p.Phe95Ser)	TAPBPL (F95S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3173820	NM_018009.5(TAPBPL):c.322G>A (p.Glu108Lys)	TAPBPL (E108K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2530147	NM_018009.5(TAPBPL):c.376C>T (p.Arg126Cys)	TAPBPL (R126C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2547076	NM_018009.5(TAPBPL):c.494C>T (p.Thr165Ile)	TAPBPL (T165I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689676	NM_018009.5(TAPBPL):c.526A>C (p.Asn176His)	TAPBPL (N46H +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 3173821	NM_018009.5(TAPBPL):c.557G>A (p.Arg186Gln)	TAPBPL (R186Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236346	NM_018009.5(TAPBPL):c.562G>A (p.Ala188Thr)	TAPBPL (A188T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316259	NM_018009.5(TAPBPL):c.632A>T (p.Asp211Val)	TAPBPL (D211V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256089	NM_018009.5(TAPBPL):c.649G>A (p.Ala217Thr)	TAPBPL (A217T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560975	NM_018009.5(TAPBPL):c.683G>A (p.Arg228Gln)	TAPBPL (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217515	NM_018009.5(TAPBPL):c.748C>T (p.Arg250Trp)	TAPBPL (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509747	NM_018009.5(TAPBPL):c.749G>A (p.Arg250Gln)	TAPBPL (R120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559122	NM_018009.5(TAPBPL):c.941C>T (p.Ala314Val)	TAPBPL (A184V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267616	NM_018009.5(TAPBPL):c.1196T>C (p.Val399Ala)	TAPBPL (V269A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218730	NM_018009.5(TAPBPL):c.1210C>T (p.Arg404Trp)	TAPBPL (R274W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250485	NM_018009.5(TAPBPL):c.1343G>A (p.Cys448Tyr)	TAPBPL (C318Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226129	NM_018009.5(TAPBPL):c.1385C>T (p.Ala462Val)	TAPBPL (A332V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 528039	NC_000012.12:g.(?_6462812)_(6470551_?)del	LOC130007245, TAPBPL +1 more	Deletion	Spastic paraplegia	GPathogenic
Select item 448851	NM_014231.5(VAMP1):c.*1630C>T	TAPBPL, VAMP1 (R115W)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 1234868	NM_014231.5(VAMP1):c.*1588T>C	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic +2 more	GBenign
Select item 1253157	NM_014231.5(VAMP1):c.*1445A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1440899	NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile)	TAPBPL, VAMP1 (T118I)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2057138	NM_014231.5(VAMP1):c.351T>C (p.Phe117=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 1940334	NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu)	TAPBPL, VAMP1 (F116L)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 1361857	NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr)	TAPBPL, VAMP1 (I114T)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2579154	NM_014231.5(VAMP1):c.341-2A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +2 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2734210	NM_014231.5(VAMP1):c.341-10C>T	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1591492	NM_014231.5(VAMP1):c.341-18_341-16del	TAPBPL, VAMP1	Deletion (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2031551	NM_014231.5(VAMP1):c.341-18C>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1621479	NM_014231.5(VAMP1):c.341-19T>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1585366	NM_014231.5(VAMP1):c.341-21_341-19delinsAAA	TAPBPL, VAMP1	Indel (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3256752	NM_014231.5(VAMP1):c.341-24G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic	GLikely pathogenic
Select item 1295842	NM_014231.5(VAMP1):c.341-64A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1282347	NM_014231.5(VAMP1):c.341-65C>T	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1258404	NM_014231.5(VAMP1):c.341-97G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1253373	NM_014231.5(VAMP1):c.340+200C>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1267527	NM_014231.5(VAMP1):c.340+146G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2054008	NM_014231.5(VAMP1):c.340+20C>T	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1669030	NM_014231.5(VAMP1):c.340+16G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2057142	NM_014231.5(VAMP1):c.340+12T>G	TAPBPL, VAMP1	Single nucleotide variant (stop lost +1 more)	Spastic paraplegia	GLikely benign
Select item 1585886	NM_014231.5(VAMP1):c.340+10G>A	TAPBPL, VAMP1 (R117H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1490473	NM_014231.5(VAMP1):c.340+9C>T	TAPBPL, VAMP1 (R117C)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1806955	NM_014231.5(VAMP1):c.340+2T>A	TAPBPL, VAMP1 (S114R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GPathogenic
Select item 240888	NM_014231.5(VAMP1):c.340+2T>G	TAPBPL, VAMP1 (S114R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 619001	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	TAPBPL, VAMP1 (R114fs +2 more)	Deletion (frameshift variant +1 more)	Spastic ataxia 1 +4 more	GPathogenic/Likely pathogenic
Select item 2053623	NM_014231.5(VAMP1):c.338dup (p.Ile114fs)	TAPBPL, VAMP1 (R114fs +2 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2684103	NM_014231.5(VAMP1):c.338T>G (p.Val113Gly)	TAPBPL, VAMP1 (V113G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926344	NM_014231.5(VAMP1):c.336T>C (p.Ile112=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 448850	NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr)	TAPBPL, VAMP1 (I112T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 849848	NM_014231.5(VAMP1):c.325G>A (p.Val109Met)	VAMP1, TAPBPL (V109M)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2724361	NM_014231.5(VAMP1):c.324C>T (p.Ile108=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1256198	NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)	TAPBPL, VAMP1 (C105*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1984925	NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr)	TAPBPL, VAMP1 (I104T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 936700	NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr)	TAPBPL, VAMP1 (A103T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 586926	NM_014231.5(VAMP1):c.299T>C (p.Met100Thr)	TAPBPL, VAMP1 (M100T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2746938	NM_014231.5(VAMP1):c.291G>C (p.Met97Ile)	TAPBPL, VAMP1 (M97I)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2995851	NM_014231.5(VAMP1):c.289-6C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1600510	NM_014231.5(VAMP1):c.289-13C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 2900720	NM_014231.5(VAMP1):c.289-16G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2133167	NM_014231.5(VAMP1):c.289-20T>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1234202	NM_014231.5(VAMP1):c.289-194C>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1568429	NM_014231.5(VAMP1):c.288+16C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1599902	NM_014231.5(VAMP1):c.288+15C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 2166606	NM_014231.5(VAMP1):c.288+12T>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3188118	NM_014231.5(VAMP1):c.263G>A (p.Arg88Lys)	TAPBPL, VAMP1 (R88K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1611572	NM_014231.5(VAMP1):c.258A>G (p.Leu86=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 995356	NM_014231.5(VAMP1):c.252C>A (p.Ala84=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic +4 more	GBenign
Select item 2504968	NM_014231.5(VAMP1):c.232_233del (p.Gln78fs)	TAPBPL, VAMP1 (Q78fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2633893	NM_014231.5(VAMP1):c.230C>T (p.Ser77Leu)	TAPBPL, VAMP1 (S77L)	Single nucleotide variant (missense variant +1 more)	VAMP1-related disorder	GUncertain significance
Select item 493108	NM_014231.5(VAMP1):c.230C>A (p.Ser77Ter)	TAPBPL, VAMP1 (S77*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1547926	NM_014231.5(VAMP1):c.222A>G (p.Ala74=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2416431	NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)	TAPBPL, VAMP1 (R68Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2139988	NM_014231.5(VAMP1):c.195G>A (p.Leu65=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1594506	NM_014231.5(VAMP1):c.186G>A (p.Leu62=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1806953	NM_014231.5(VAMP1):c.172A>G (p.Arg58Gly)	TAPBPL, VAMP1 (R58G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892082	NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu)	TAPBPL, VAMP1 (D53E)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2575084	NM_014231.5(VAMP1):c.152dup (p.Asn51fs)	TAPBPL, VAMP1 (N51fs)	Duplication (frameshift variant +1 more)	Spastic ataxia 1	GLikely pathogenic
Select item 763491	NM_014231.5(VAMP1):c.150G>C (p.Val50=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912984	NM_014231.5(VAMP1):c.146G>A (p.Arg49His)	VAMP1, TAPBPL (R49H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 549692	NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)	VAMP1, TAPBPL (R49P)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic +1 more	GPathogenic
Select item 3331831	NM_014231.5(VAMP1):c.145C>T (p.Arg49Cys)	TAPBPL, VAMP1 (R49C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1368203	NM_014231.5(VAMP1):c.130-6C>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1576293	NM_014231.5(VAMP1):c.130-15C>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1280091	NM_014231.5(VAMP1):c.130-25T>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1293705	NM_014231.5(VAMP1):c.129+90_129+92del	TAPBPL, VAMP1	Deletion (intron variant)	not provided	GBenign

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