ClinVar for Gene (Select 2060) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089901	NM_001981.3(EPS15):c.2521A>G (p.Ser841Gly)	EPS15 (S811G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089900	NM_001981.3(EPS15):c.2432G>A (p.Gly811Asp)	EPS15 (G497D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089899	NM_001981.3(EPS15):c.2206G>C (p.Glu736Gln)	EPS15 (E773Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089897	NM_001981.3(EPS15):c.1880G>A (p.Gly627Asp)	EPS15 (G664D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089896	NM_001981.3(EPS15):c.1825A>T (p.Thr609Ser)	EPS15 (T295S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089895	NM_001981.3(EPS15):c.1625A>G (p.His542Arg)	EPS15 (H579R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089894	NM_001981.3(EPS15):c.1571C>T (p.Thr524Ile)	EPS15 (T524I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089893	NM_001981.3(EPS15):c.1268C>T (p.Ala423Val)	EPS15 (A109V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089892	NM_001981.3(EPS15):c.10G>A (p.Ala4Thr)	EPS15, EPS15-AS1 +1 more (A4T)	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	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2610888	NM_001981.3(EPS15):c.1043A>G (p.Glu348Gly)	EPS15 (E385G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608480	NM_001981.3(EPS15):c.319A>G (p.Ser107Gly)	EPS15 (S107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605593	NM_001981.3(EPS15):c.1462G>A (p.Glu488Lys)	EPS15 (E174K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604584	NM_001981.3(EPS15):c.2260A>G (p.Lys754Glu)	EPS15 (K440E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593993	NM_001981.3(EPS15):c.1514A>G (p.His505Arg)	EPS15 (H191R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557621	NM_001981.3(EPS15):c.910A>C (p.Thr304Pro)	EPS15 (T274P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553098	NM_001981.3(EPS15):c.2569G>A (p.Glu857Lys)	EPS15 (E543K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526058	NM_001981.3(EPS15):c.181G>C (p.Asp61His)	EPS15 (D61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524238	NM_001981.3(EPS15):c.1577A>G (p.Tyr526Cys)	EPS15 (Y212C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512486	NM_001981.3(EPS15):c.860A>G (p.His287Arg)	EPS15 (H257R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492793	NM_001981.3(EPS15):c.745C>T (p.Arg249Cys)	EPS15 (R286C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484929	NM_001981.3(EPS15):c.961A>C (p.Ile321Leu)	EPS15 (I358L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474444	NM_001981.3(EPS15):c.2006C>T (p.Ser669Leu)	EPS15 (S355L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473593	NM_001981.3(EPS15):c.2036A>G (p.Asn679Ser)	EPS15 (N679S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472272	NM_001981.3(EPS15):c.2027C>T (p.Ala676Val)	EPS15 (A646V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470717	NM_001981.3(EPS15):c.868A>G (p.Ser290Gly)	EPS15 (S260G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470607	NM_001981.3(EPS15):c.2539A>T (p.Ser847Cys)	EPS15 (S847C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411469	NM_001981.3(EPS15):c.2540G>A (p.Ser847Asn)	EPS15 (S817N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401434	NM_001981.3(EPS15):c.904G>A (p.Val302Ile)	EPS15 (V302I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399509	NM_001981.3(EPS15):c.2405T>C (p.Leu802Pro)	EPS15 (L802P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387019	NM_001981.3(EPS15):c.1207G>A (p.Glu403Lys)	EPS15 (E373K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383691	NM_001981.3(EPS15):c.1133A>T (p.Gln378Leu)	EPS15 (Q64L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358141	NM_001981.3(EPS15):c.370G>T (p.Val124Leu)	EPS15 (V124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348580	NM_001981.3(EPS15):c.233G>A (p.Arg78His)	EPS15 (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308639	NM_001981.3(EPS15):c.2602G>A (p.Glu868Lys)	EPS15 (E554K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306568	NM_001981.3(EPS15):c.2551T>C (p.Ser851Pro)	EPS15 (S888P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251355	NM_001981.3(EPS15):c.196G>A (p.Gly66Ser)	EPS15 (G66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243390	NM_001981.3(EPS15):c.2129C>T (p.Pro710Leu)	EPS15 (P747L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220159	NM_001981.3(EPS15):c.1831C>G (p.Pro611Ala)	EPS15 (P297A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214636	NM_001981.3(EPS15):c.1401T>G (p.Ser467Arg)	EPS15 (S467R +3 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 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1341174	GRCh37/hg19 1p32.3(chr1:51850394-52256345)x3	EPS15, NRDC +1 more	Copy number gain	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 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	AGBL4, C1orf185 +50 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 53