ClinVar for Gene (Select 127428) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324924	NM_153035.3(TCEANC2):c.23C>A (p.Thr8Lys)	TCEANC2 (T8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324923	NM_153035.3(TCEANC2):c.401A>G (p.Asn134Ser)	TCEANC2 (N134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175068	NM_153035.3(TCEANC2):c.359T>C (p.Ile120Thr)	TCEANC2 (I120T)	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 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2592878	NM_153035.3(TCEANC2):c.358A>G (p.Ile120Val)	TCEANC2 (I120V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527714	NM_153035.3(TCEANC2):c.121G>A (p.Asp41Asn)	TCEANC2 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491162	NM_153035.3(TCEANC2):c.251C>T (p.Thr84Ile)	TCEANC2 (T84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334433	NM_153035.3(TCEANC2):c.7A>G (p.Lys3Glu)	TCEANC2 (K3E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264123	NM_153035.3(TCEANC2):c.329T>C (p.Phe110Ser)	TCEANC2 (F110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
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 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22