TMEM61[gene] - ClinVar

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Items: 35

	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 2279778	NM_182532.3(TMEM61):c.46C>T (p.Leu16Phe)	TMEM61 (L16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203845	NM_182532.3(TMEM61):c.70G>A (p.Gly24Ser)	TMEM61 (G24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605931	NM_182532.3(TMEM61):c.98T>A (p.Leu33His)	TMEM61 (L33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309427	NM_182532.3(TMEM61):c.101G>C (p.Cys34Ser)	TMEM61 (C34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300606	NM_182532.3(TMEM61):c.106G>A (p.Ala36Thr)	TMEM61 (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179554	NM_182532.3(TMEM61):c.124G>A (p.Asp42Asn)	TMEM61 (D42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327138	NM_182532.3(TMEM61):c.133G>A (p.Ala45Thr)	TMEM61 (A45T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543907	NM_182532.3(TMEM61):c.157C>G (p.Pro53Ala)	TMEM61 (P53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465800	NM_182532.3(TMEM61):c.161C>G (p.Thr54Arg)	TMEM61 (T54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468441	NM_182532.3(TMEM61):c.166T>C (p.Tyr56His)	TMEM61 (Y56H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179555	NM_182532.3(TMEM61):c.260G>T (p.Trp87Leu)	TMEM61 (W87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375890	NM_182532.3(TMEM61):c.299A>G (p.Asp100Gly)	TMEM61 (D100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179556	NM_182532.3(TMEM61):c.301C>T (p.Pro101Ser)	TMEM61 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179557	NM_182532.3(TMEM61):c.374A>T (p.Lys125Ile)	TMEM61 (K125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179558	NM_182532.3(TMEM61):c.380T>G (p.Val127Gly)	TMEM61 (V127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179559	NM_182532.3(TMEM61):c.389C>A (p.Pro130His)	TMEM61 (P130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234315	NM_182532.3(TMEM61):c.406G>A (p.Val136Met)	TMEM61 (V136M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179560	NM_182532.3(TMEM61):c.424G>A (p.Glu142Lys)	TMEM61 (E142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252337	NM_182532.3(TMEM61):c.455C>T (p.Thr152Met)	TMEM61 (T152M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362186	NM_182532.3(TMEM61):c.528C>A (p.Ser176Arg)	TMEM61 (S176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179561	NM_182532.3(TMEM61):c.559G>A (p.Val187Ile)	TMEM61 (V187I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283464	NM_182532.3(TMEM61):c.602G>A (p.Gly201Asp)	TMEM61 (G201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391837	NM_182532.3(TMEM61):c.620G>A (p.Arg207Gln)	TMEM61 (R207Q)	Single nucleotide variant (missense variant)	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	ATG4C, MRPL37 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
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 565099	GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3	ACOT11, BSND +10 more	Copy number gain	not provided	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

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Items: 35