TMX1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 2210142	NM_030755.5(TMX1):c.23C>G (p.Ala8Gly)	TMX1 (A8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220872	NM_030755.5(TMX1):c.134G>A (p.Gly45Glu)	TMX1 (G45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369186	NM_030755.5(TMX1):c.372A>G (p.Ile124Met)	TMX1 (I124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327424	NM_030755.5(TMX1):c.391G>C (p.Glu131Gln)	TMX1 (E131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180093	NM_030755.5(TMX1):c.421T>C (p.Trp141Arg)	TMX1 (W141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240856	NM_030755.5(TMX1):c.430C>G (p.Pro144Ala)	TMX1 (P144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602892	NM_030755.5(TMX1):c.474A>C (p.Leu158=)	TMX1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2548669	NM_030755.5(TMX1):c.542A>G (p.Tyr181Cys)	TMX1 (Y181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405793	NM_030755.5(TMX1):c.581T>C (p.Leu194Ser)	TMX1 (L194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303012	NM_030755.5(TMX1):c.655T>C (p.Tyr219His)	TMX1 (Y219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492624	NM_030755.5(TMX1):c.701A>T (p.Lys234Ile)	TMX1 (K234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404779	NM_030755.5(TMX1):c.754G>A (p.Glu252Lys)	TMX1 (E252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522537	NM_030755.5(TMX1):c.796A>G (p.Ile266Val)	TMX1 (I266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552849	NM_030755.5(TMX1):c.839C>A (p.Ser280Tyr)	TMX1 (S280Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527817	GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	ABHD12B, ATL1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 689208	GRCh37/hg19 14q22.1(chr14:51357592-51951601)x3	ABHD12B, PYGL +2 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25