ClinVar for Gene (Select 4898) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2365973	NM_001101662.2(NRDC):c.442G>A (p.Glu148Lys)	NRDC (E16K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296099	NM_001101662.2(NRDC):c.2869A>G (p.Thr957Ala)	NRDC (T1025A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251138	NM_001101662.2(NRDC):c.3205G>C (p.Val1069Leu)	NRDC (V1005L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250549	NM_001101662.2(NRDC):c.3068A>G (p.Lys1023Arg)	NRDC (K1091R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221821	NM_001101662.2(NRDC):c.2512G>A (p.Gly838Ser)	NRDC (G838S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206386	NM_001101662.2(NRDC):c.896T>C (p.Met299Thr)	NRDC (M367T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1809237	GRCh37/hg19 1p32.3(chr1:51797643-52256345)x3	EPS15, NRDC +2 more	Copy number gain	not provided	GUncertain significance
Select item 1526993	GRCh37/hg19 1p32.3(chr1:51755130-52521150)	EPS15, KTI12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1341174	GRCh37/hg19 1p32.3(chr1:51850394-52256345)x3	EPS15, NRDC +1 more	Copy number gain	not provided	GUncertain significance
Select item 1331177	NM_001101662.2(NRDC):c.453AGA[3] (p.Glu154del)	NRDC (E154del +1 more)	Microsatellite (inframe_deletion)	not provided	GBenign
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 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 780238	NM_001101662.2(NRDC):c.177C>T (p.Thr59=)	NRDC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711769	NM_001101662.2(NRDC):c.131C>T (p.Pro44Leu)	NRDC (P44L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 565096	GRCh37/hg19 1p32.3(chr1:52192823-52364203)x1	NRDC, OSBPL9	Copy number loss	not provided	GUncertain significance
Select item 560387	NM_001101662.2(NRDC):c.1702_1703del (p.Met568fs)	NRDC (M504fs +2 more)	Deletion (frameshift variant)	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
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic
Select item 145934	GRCh38/hg38 1p32.3(chr1:51814691-51941708)x3	LOC112590802, LOC126805732 +4 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 24