"GeneDx"[submitter] AND "TAPBPL"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1234202	NM_014231.5(VAMP1):c.289-194C>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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
Select item 451278	NM_014231.5(VAMP1):c.122T>A (p.Val41Glu)	TAPBPL, VAMP1 (V41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314733	NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly)	TAPBPL, VAMP1 (A9G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1224901	NM_014231.5(VAMP1):c.2+131T>C	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234310	NM_014231.5(VAMP1):c.-115A>G	TAPBPL, VAMP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1284046	NC_000012.12:g.6470901del	TAPBPL, VAMP1	Deletion	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 22