15487[HGNC] - ClinVar

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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 provided +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

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Items: 25