15584[HGNC] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 3173062	NM_001193308.2(SYTL1):c.28G>A (p.Glu10Lys)	SYTL1 (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484701	NM_001193308.2(SYTL1):c.80A>C (p.Glu27Ala)	SYTL1 (E27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492338	NM_001193308.2(SYTL1):c.185G>A (p.Arg62Gln)	SYTL1 (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173061	NM_001193308.2(SYTL1):c.262C>T (p.Arg88Cys)	SYTL1 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173063	NM_001193308.2(SYTL1):c.320G>A (p.Arg107His)	SYTL1 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173064	NM_001193308.2(SYTL1):c.376G>A (p.Ala126Thr)	SYTL1 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479637	NM_001193308.2(SYTL1):c.383T>G (p.Val128Gly)	SYTL1 (V128G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385813	NM_001193308.2(SYTL1):c.446T>G (p.Leu149Arg)	SYTL1 (L149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173065	NM_001193308.2(SYTL1):c.479C>T (p.Pro160Leu)	SYTL1 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319375	NM_001193308.2(SYTL1):c.539G>A (p.Gly180Asp)	SYTL1 (G180D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294053	NM_001193308.2(SYTL1):c.586G>A (p.Glu196Lys)	SYTL1 (E184K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173066	NM_001193308.2(SYTL1):c.598G>T (p.Gly200Trp)	SYTL1 (G188W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173067	NM_001193308.2(SYTL1):c.610G>A (p.Glu204Lys)	SYTL1 (E204K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339118	NM_001193308.2(SYTL1):c.616C>G (p.Arg206Gly)	SYTL1 (R194G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531252	NM_001193308.2(SYTL1):c.677C>G (p.Pro226Arg)	LOC129929870, SYTL1 (P214R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360794	NM_001193308.2(SYTL1):c.685G>A (p.Asp229Asn)	LOC129929870, SYTL1 (D217N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236558	NM_001193308.2(SYTL1):c.686A>C (p.Asp229Ala)	LOC129929870, SYTL1 (D217A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324073	NM_001193308.2(SYTL1):c.697G>C (p.Asp233His)	LOC129929870, SYTL1 (D233H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173068	NM_001193308.2(SYTL1):c.788C>T (p.Ala263Val)	SYTL1 (A251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344938	NM_001193308.2(SYTL1):c.788C>A (p.Ala263Glu)	SYTL1 (A251E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549610	NM_001193308.2(SYTL1):c.803G>C (p.Gly268Ala)	SYTL1 (G256A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354059	NM_001193308.2(SYTL1):c.883G>A (p.Ala295Thr)	SYTL1 (A283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365782	NM_001193308.2(SYTL1):c.893G>A (p.Arg298His)	SYTL1 (R286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515560	NM_001193308.2(SYTL1):c.895C>A (p.Arg299Ser)	SYTL1 (R287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173069	NM_001193308.2(SYTL1):c.967A>G (p.Lys323Glu)	SYTL1 (K311E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482477	NM_001193308.2(SYTL1):c.1009T>C (p.Ser337Pro)	SYTL1 (S325P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368155	NM_001193308.2(SYTL1):c.1024G>A (p.Glu342Lys)	SYTL1 (E330K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467958	NM_001193308.2(SYTL1):c.1039G>A (p.Val347Met)	SYTL1 (V335M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173058	NM_001193308.2(SYTL1):c.1081A>C (p.Asn361His)	SYTL1 (N349H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367276	NM_001193308.2(SYTL1):c.1240G>A (p.Glu414Lys)	SYTL1 (E414K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496014	NM_001193308.2(SYTL1):c.1282G>A (p.Val428Met)	SYTL1 (V416M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456533	NM_001193308.2(SYTL1):c.1322C>T (p.Ser441Phe)	SYTL1 (S429F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324071	NM_001193308.2(SYTL1):c.1325T>G (p.Leu442Arg)	SYTL1 (L430R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324072	NM_001193308.2(SYTL1):c.1402A>C (p.Ser468Arg)	SYTL1 (S456R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365781	NM_001193308.2(SYTL1):c.1406T>C (p.Leu469Pro)	SYTL1 (L457P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324070	NM_001193308.2(SYTL1):c.1463G>A (p.Arg488His)	SYTL1 (R476H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470394	NM_001193308.2(SYTL1):c.1481T>G (p.Leu494Arg)	SYTL1 (L494R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307321	NM_001193308.2(SYTL1):c.1601A>C (p.Lys534Thr)	SYTL1 (K522T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173059	NM_001193308.2(SYTL1):c.1636G>A (p.Glu546Lys)	SYTL1 (E534K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173060	NM_001193308.2(SYTL1):c.1651C>T (p.Leu551Phe)	SYTL1 (L551F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	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 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: 50