TMEM59[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 587698	NM_004872.5(TMEM59):c.*23G>A	TMEM59	Single nucleotide variant (3 prime UTR variant)	Estrogen resistance syndrome	Grisk factor
Select item 2250520	NM_004872.5(TMEM59):c.932C>G (p.Pro311Arg)	TMEM59 (P180R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284162	NM_004872.5(TMEM59):c.862C>A (p.Leu288Ile)	TMEM59 (L158I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486890	NM_004872.5(TMEM59):c.832G>A (p.Gly278Ser)	TMEM59 (G147S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390105	NM_004872.5(TMEM59):c.760C>T (p.Leu254Phe)	TMEM59 (L124F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179548	NM_004872.5(TMEM59):c.754G>A (p.Val252Ile)	TMEM59 (V252I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480038	NM_004872.5(TMEM59):c.569C>A (p.Pro190Gln)	TMEM59 (P190Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179547	NM_004872.5(TMEM59):c.566C>T (p.Ala189Val)	TMEM59 (A122V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340431	NM_004872.5(TMEM59):c.508C>A (p.Leu170Ile)	TMEM59 (L39I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327134	NM_004872.5(TMEM59):c.462G>A (p.Met154Ile)	TMEM59 (M154I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472705	NM_004872.5(TMEM59):c.286T>A (p.Cys96Ser)	TMEM59 (C96S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548709	NM_004872.5(TMEM59):c.185C>T (p.Pro62Leu)	LOC112590808, TMEM59 (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377488	NM_004872.5(TMEM59):c.184C>T (p.Pro62Ser)	LOC112590808, TMEM59 (P62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342915	NM_004872.5(TMEM59):c.4G>A (p.Ala2Thr)	LOC112590808, TMEM59 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 685398	GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3	DIO1, GLIS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 28