65260[geneid] - ClinVar

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Items: 68

	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 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
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 2148938	NM_023077.3(COA7):c.695A>G (p.Ter232=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161278	NM_023077.3(COA7):c.658G>C (p.Glu220Gln)	COA7 (E220Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1287335	NM_023077.3(COA7):c.656A>G (p.Lys219Arg)	COA7 (K219R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2084591	NM_023077.3(COA7):c.653A>T (p.His218Leu)	COA7 (H218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030887	NM_023077.3(COA7):c.646C>G (p.Gln216Glu)	COA7 (Q216E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167423	NM_023077.3(COA7):c.621C>T (p.Ala207=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011614	NM_023077.3(COA7):c.577A>G (p.Met193Val)	COA7 (M193V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806136	NM_023077.3(COA7):c.574C>T (p.Arg192Cys)	COA7 (R192C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762032	NM_023077.3(COA7):c.570C>T (p.Ala190=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003478	NM_023077.3(COA7):c.556G>A (p.Ala186Thr)	COA7 (A186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806137	NM_023077.3(COA7):c.540_550dup (p.Ile184fs)	COA7 (I184fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1972960	NM_023077.3(COA7):c.456C>T (p.Asn152=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047707	NM_023077.3(COA7):c.447T>C (p.Ser149=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	COA7-related disorder	GLikely benign
Select item 625459	NM_023077.3(COA7):c.446G>T (p.Ser149Ile)	COA7, LOC129388524 (S149I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 625461	NM_023077.3(COA7):c.431del (p.Gly144fs)	COA7, LOC129388524 (G144fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 438350	NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)	COA7, LOC129388524 (Y137C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 3026114	NM_023077.3(COA7):c.407A>G (p.Asp136Gly)	LOC129388524, COA7 (D136G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010945	NM_023077.3(COA7):c.346C>T (p.Leu116Phe)	COA7, LOC129388524 (L116F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917973	NM_023077.3(COA7):c.340G>A (p.Val114Ile)	COA7, LOC129388524 (V114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968503	NM_023077.3(COA7):c.339C>T (p.Asn113=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739450	NM_023077.3(COA7):c.330A>G (p.Ala110=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178722	NM_023077.3(COA7):c.297G>A (p.Ala99=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334978	NM_023077.3(COA7):c.275C>T (p.Ala92Val)	COA7, LOC129388524 (A92V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973945	NM_023077.3(COA7):c.251G>A (p.Gly84Asp)	COA7 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1351416	NM_023077.3(COA7):c.248-3C>T	COA7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2989121	NM_023077.3(COA7):c.248-20C>T	COA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281780	NM_023077.3(COA7):c.248-36C>G	COA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253097	NM_023077.3(COA7):c.248-92dup	COA7	Duplication (intron variant)	not provided	GBenign
Select item 1271736	NM_023077.3(COA7):c.248-145C>T	COA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 438351	NM_023077.3(COA7):c.247+1G>T	COA7	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 1916651	NM_023077.3(COA7):c.237G>A (p.Val79=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362120	NM_023077.3(COA7):c.233A>G (p.Tyr78Cys)	COA7 (Y78C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486387	NM_023077.3(COA7):c.224G>A (p.Gly75Glu)	COA7 (G75E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923357	NM_023077.3(COA7):c.188A>G (p.Glu63Gly)	COA7 (E63G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076792	NM_023077.3(COA7):c.180T>G (p.Phe60Leu)	COA7 (F60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067828	NM_023077.3(COA7):c.177G>A (p.Lys59=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717674	NM_023077.3(COA7):c.143G>A (p.Arg48Gln)	COA7 (R48Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1960790	NM_023077.3(COA7):c.124G>T (p.Asp42Tyr)	COA7 (D42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009597	NM_023077.3(COA7):c.120G>A (p.Leu40=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030824	NM_023077.3(COA7):c.113A>G (p.Tyr38Cys)	COA7 (Y38C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420136	NM_023077.3(COA7):c.112T>C (p.Tyr38His)	COA7 (Y38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335810	NM_023077.3(COA7):c.107-2A>G	COA7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2876154	NM_023077.3(COA7):c.106+9C>T	COA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034081	NM_023077.3(COA7):c.106+8G>A	COA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2585171	NM_023077.3(COA7):c.97del (p.Asp33fs)	COA7 (D33fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GLikely pathogenic
Select item 2076925	NM_023077.3(COA7):c.91G>A (p.Glu31Lys)	COA7 (E31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638818	NM_023077.3(COA7):c.58A>T (p.Met20Leu)	COA7 (M20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967070	NM_023077.3(COA7):c.57C>T (p.Asn19=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976344	NM_023077.3(COA7):c.55A>G (p.Asn19Asp)	COA7 (N19D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405269	NM_023077.3(COA7):c.36G>C (p.Gln12His)	COA7 (Q12H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 625460	NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	COA7 (D6G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 2066803	NM_023077.3(COA7):c.7G>C (p.Gly3Arg)	COA7 (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896732	NM_023077.3(COA7):c.6C>T (p.Ala2=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045661	NM_023077.3(COA7):c.-6C>T	COA7, LOC129930554	Single nucleotide variant (5 prime UTR variant)	COA7-related disorder	GLikely benign
Select item 1259726	NC_000001.11:g.52698478G>T	COA7	Single nucleotide variant	not provided	GBenign
Select item 1258438	NC_000001.11:g.52698548C>T	COA7, LOC129930555	Single nucleotide variant	not provided	GBenign
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 1374246	NC_000001.10:g.(?_53153392)_(53493763_?)dup	COA7, ECHDC2 +3 more	Duplication	not provided	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 814082	GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3	SLC1A7, MAGOH +11 more	Copy number gain	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 565097	GRCh37/hg19 1p32.3(chr1:53120178-53330882)x1	ZYG11A, SHISAL2A +2 more	Copy number loss	not provided	GLikely benign
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: 68