ClinVar for Gene (Select 115209) - ClinVar

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Links from Gene

Items: 23

	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 2638845	NM_145243.5(OMA1):c.1349A>T (p.Asp450Val)	DAB1, OMA1 (D450V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1809001	GRCh37/hg19 1p32.2-32.1(chr1:57137390-59037566)x3	C8A, C8B +4 more	Copy number gain	not provided	GUncertain significance
Select item 1287065	NM_145243.5(OMA1):c.632T>G (p.Phe211Cys)	DAB1, OMA1 (F211C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 929333	GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3	DAB1, FGGY +4 more	Copy number gain	See cases	GUncertain significance
Select item 785790	NM_145243.5(OMA1):c.924C>T (p.Phe308=)	DAB1, OMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780242	NM_145243.5(OMA1):c.201C>A (p.Asn67Lys)	DAB1, OMA1 (N67K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780241	NM_145243.5(OMA1):c.595T>C (p.Leu199=)	DAB1, OMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780003	NM_145243.5(OMA1):c.1366-9T>G	DAB1, OMA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773636	NM_145243.5(OMA1):c.880A>G (p.Ile294Val)	DAB1, OMA1 (I294V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767673	NM_145243.5(OMA1):c.205C>T (p.His69Tyr)	DAB1, OMA1 (H69Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729080	NM_145243.5(OMA1):c.755T>C (p.Met252Thr)	DAB1, OMA1 (M252T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722109	NM_145243.5(OMA1):c.1565C>T (p.Thr522Met)	DAB1, OMA1 (T522M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713749	NM_145243.5(OMA1):c.1093G>T (p.Asp365Tyr)	DAB1, OMA1 (D365Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 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 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 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	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23