ClinVar for Gene (Select 55283) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293732	NM_018298.11(MCOLN3):c.842A>G (p.Asn281Ser)	MCOLN3 (N225S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293731	NM_018298.11(MCOLN3):c.1651T>C (p.Cys551Arg)	MCOLN3 (C495R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293730	NM_018298.11(MCOLN3):c.385G>A (p.Ala129Thr)	MCOLN3 (A129T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124462	NM_018298.11(MCOLN3):c.922A>G (p.Ile308Val)	MCOLN3 (I252V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124461	NM_018298.11(MCOLN3):c.785A>G (p.Asn262Ser)	MCOLN3 (N262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124460	NM_018298.11(MCOLN3):c.421G>A (p.Val141Ile)	MCOLN3 (V85I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124459	NM_018298.11(MCOLN3):c.299A>G (p.His100Arg)	MCOLN3 (H100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124458	NM_018298.11(MCOLN3):c.199A>G (p.Ile67Val)	MCOLN3 (I67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124457	NM_018298.11(MCOLN3):c.146C>G (p.Pro49Arg)	MCOLN3 (P49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124456	NM_018298.11(MCOLN3):c.1394C>T (p.Ala465Val)	MCOLN3 (A409V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124455	NM_018298.11(MCOLN3):c.1047C>A (p.Asp349Glu)	MCOLN3 (D293E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062611	GRCh37/hg19 1p22.3(chr1:85513068-86105378)x3	BCL10, C1orf52 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638904	NM_018298.11(MCOLN3):c.1224G>A (p.Ala408=)	MCOLN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612555	NM_018298.11(MCOLN3):c.319A>G (p.Met107Val)	MCOLN3 (M107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608501	NM_018298.11(MCOLN3):c.91G>C (p.Glu31Gln)	MCOLN3 (E31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570197	NM_018298.11(MCOLN3):c.371A>G (p.Asp124Gly)	MCOLN3 (D124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551113	NM_018298.11(MCOLN3):c.1633G>C (p.Val545Leu)	MCOLN3 (V545L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541914	NM_018298.11(MCOLN3):c.671C>A (p.Ala224Asp)	MCOLN3 (A224D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513245	NM_018298.11(MCOLN3):c.962T>A (p.Phe321Tyr)	MCOLN3 (F265Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476669	NM_018298.11(MCOLN3):c.562G>A (p.Val188Met)	MCOLN3 (V132M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476540	NM_018298.11(MCOLN3):c.145C>T (p.Pro49Ser)	MCOLN3 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468973	NM_018298.11(MCOLN3):c.79T>G (p.Ser27Ala)	MCOLN3 (S27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466264	NM_018298.11(MCOLN3):c.214A>G (p.Met72Val)	MCOLN3 (M72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406482	NM_018298.11(MCOLN3):c.535C>G (p.Pro179Ala)	MCOLN3 (P123A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405014	NM_018298.11(MCOLN3):c.1061T>C (p.Ile354Thr)	MCOLN3 (I354T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368660	NM_018298.11(MCOLN3):c.350A>G (p.Tyr117Cys)	MCOLN3 (Y117C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364964	NM_018298.11(MCOLN3):c.59G>A (p.Cys20Tyr)	MCOLN3 (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355266	NM_018298.11(MCOLN3):c.409T>C (p.Tyr137His)	MCOLN3 (Y81H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320212	NM_018298.11(MCOLN3):c.167G>A (p.Arg56Gln)	MCOLN3 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286943	NM_018298.11(MCOLN3):c.788A>G (p.Asp263Gly)	MCOLN3 (D207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276937	NM_018298.11(MCOLN3):c.1460G>T (p.Ser487Ile)	MCOLN3 (S431I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274031	NM_018298.11(MCOLN3):c.854T>G (p.Met285Arg)	MCOLN3 (M229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254357	NM_018298.11(MCOLN3):c.500A>C (p.Asn167Thr)	MCOLN3 (N111T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46