MCOLN2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 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 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 3124448	NM_153259.4(MCOLN2):c.1669A>G (p.Arg557Gly)	MCOLN2 (R557G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357455	NM_153259.4(MCOLN2):c.1657C>T (p.Arg553Trp)	MCOLN2 (R553W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124447	NM_153259.4(MCOLN2):c.1655G>C (p.Cys552Ser)	MCOLN2 (C524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124445	NM_153259.4(MCOLN2):c.1571C>G (p.Thr524Arg)	MCOLN2 (T524R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315212	NM_153259.4(MCOLN2):c.1523A>G (p.Asp508Gly)	MCOLN2 (D508G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124444	NM_153259.4(MCOLN2):c.1450C>T (p.Arg484Cys)	MCOLN2 (R456C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603172	NM_153259.4(MCOLN2):c.1328A>G (p.His443Arg)	MCOLN2 (H415R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565322	NM_153259.4(MCOLN2):c.1256G>A (p.Arg419Gln)	MCOLN2 (R391Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711275	NM_153259.4(MCOLN2):c.1213-10T>A	MCOLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2530331	NM_153259.4(MCOLN2):c.1165G>C (p.Val389Leu)	MCOLN2 (V361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337584	NM_153259.4(MCOLN2):c.1157C>T (p.Thr386Met)	MCOLN2 (T358M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777913	NM_153259.4(MCOLN2):c.1110+10G>A	MCOLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775563	NM_153259.4(MCOLN2):c.1108A>C (p.Lys370Gln)	MCOLN2 (K370Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787751	NM_153259.4(MCOLN2):c.1093A>G (p.Met365Val)	MCOLN2 (M337V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3124454	NM_153259.4(MCOLN2):c.989A>C (p.Tyr330Ser)	MCOLN2 (Y302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599722	NM_153259.4(MCOLN2):c.956G>A (p.Arg319Gln)	MCOLN2 (R291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358634	NM_153259.4(MCOLN2):c.766G>T (p.Ala256Ser)	MCOLN2 (A256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456358	NM_153259.4(MCOLN2):c.746C>T (p.Thr249Met)	MCOLN2 (T221M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524274	NM_153259.4(MCOLN2):c.712C>T (p.Arg238Cys)	MCOLN2 (R238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124453	NM_153259.4(MCOLN2):c.686G>T (p.Gly229Val)	MCOLN2 (G201V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611875	NM_153259.4(MCOLN2):c.677A>T (p.His226Leu)	MCOLN2 (H226L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597724	NM_153259.4(MCOLN2):c.608C>T (p.Pro203Leu)	MCOLN2 (P203L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272207	NM_153259.4(MCOLN2):c.592C>T (p.Leu198Phe)	MCOLN2 (L198F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124451	NM_153259.4(MCOLN2):c.553G>A (p.Asp185Asn)	MCOLN2 (D185N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282305	NM_153259.4(MCOLN2):c.515C>A (p.Thr172Asn)	MCOLN2 (T144N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124450	NM_153259.4(MCOLN2):c.512G>A (p.Gly171Glu)	MCOLN2 (G143E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558102	NM_153259.4(MCOLN2):c.487G>A (p.Val163Ile)	MCOLN2 (V135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410996	NM_153259.4(MCOLN2):c.443C>T (p.Thr148Ile)	MCOLN2 (T148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248013	NM_153259.4(MCOLN2):c.215A>G (p.Lys72Arg)	MCOLN2 (K72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473449	NM_153259.4(MCOLN2):c.129A>C (p.Glu43Asp)	MCOLN2 (E15D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209169	NM_153259.4(MCOLN2):c.82G>A (p.Ala28Thr)	MCOLN2 (A28T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 786464	NM_153259.4(MCOLN2):c.58G>A (p.Val20Ile)	MCOLN2 (V20I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 722691	NM_153259.4(MCOLN2):c.45G>A (p.Glu15=)	MCOLN2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3124449	NM_153259.4(MCOLN2):c.38T>G (p.Ile13Ser)	MCOLN2 (I13S)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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	ANGPTL7, C1orf127 +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)	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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 47