MEG3[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC130056444, LOC130056445 +97 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	See cases	GPathogenic
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 162009	NC_000014.9:g.100489287_100900640del411354	MIR431, MIR432 +27 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 162007	NC_000014.9:g.100720531_100829298del108768	DLK1, LOC112163682 +3 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 162011	NC_000014.9:g.100806482_101281031del474550	MIR299, MIR300 +106 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 162014	NC_000014.9:g.100824888_100829190delins100833642_100833702	MEG3	Indel	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 3040216	NR_046473.1(MEG3):n.578G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3059566	NR_046473.1(MEG3):n.679G>C	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 2644539	NR_046473.1(MEG3):n.936-391G>T	MEG3	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3054634	NR_046473.1(MEG3):n.936-366G>A	MEG3	Single nucleotide variant (non-coding transcript variant +1 more)	MEG3-related disorder	GLikely benign
Select item 2644540	NC_000014.9:g.100831954T>G	MEG3	Single nucleotide variant	not provided	GBenign
Select item 2636776	NR_046473.1(MEG3):n.1050-1536G>T	MEG3	Single nucleotide variant (intron variant)	MEG3-related disorder	GUncertain significance
Select item 3239017	NC_000014.9:g.100835004G>A	MEG3	Single nucleotide variant	not provided	GBenign
Select item 2644541	NC_000014.9:g.100835277del	MEG3	Deletion	not provided	GLikely benign
Select item 2644542	NC_000014.9:g.100835512T>C	MEG3	Single nucleotide variant	not provided	GUncertain significance
Select item 2644543	NC_000014.9:g.100835704G>A	MEG3	Single nucleotide variant	not provided	GLikely benign
Select item 3043544	NR_046473.1(MEG3):n.1050-132C>A	MEG3	Single nucleotide variant (intron variant)	MEG3-related disorder	GLikely benign
Select item 3034727	NR_046473.1(MEG3):n.1153G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3042001	NR_046473.1(MEG3):n.1165G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3056262	NR_046473.1(MEG3):n.1184-7G>C	MEG3	Single nucleotide variant (intron variant)	MEG3-related disorder	GBenign
Select item 3044287	NR_046473.1(MEG3):n.1296dup	MEG3	Duplication (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3046639	NR_046473.1(MEG3):n.1460G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3055213	NR_046473.1(MEG3):n.1700C>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3053082	NR_046473.1(MEG3):n.2250_2251del	MEG3	Deletion (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3035435	NR_046473.1(MEG3):n.3109del	MEG3	Deletion (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3053362	NR_046473.1(MEG3):n.3629G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3052746	NR_046473.1(MEG3):n.4204C>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3056329	NR_046473.1(MEG3):n.4210A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3056978	NR_046473.1(MEG3):n.4528A>C	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3053740	NR_046473.1(MEG3):n.4628A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3057216	NR_046473.1(MEG3):n.4715A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3250900	NR_190994.1(MEG3):n.4927A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3040103	NR_046473.1(MEG3):n.4868G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3046670	NR_046473.1(MEG3):n.5431A>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3041128	NR_046473.1(MEG3):n.5439C>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3035333	NR_046473.1(MEG3):n.5994_6001del	MEG3	Deletion (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3045089	NR_046473.1(MEG3):n.6629C>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3034698	NR_046473.1(MEG3):n.6706G>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GLikely benign
Select item 3060854	NR_046473.1(MEG3):n.6838G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3055484	NR_046473.1(MEG3):n.7358C>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3041445	NR_046473.1(MEG3):n.7371T>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3045679	NR_046473.1(MEG3):n.7405G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3039480	NR_046473.1(MEG3):n.7884A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3053291	NR_046473.1(MEG3):n.8115C>T	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3044961	NR_046473.1(MEG3):n.8133T>C	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3060897	NR_046473.1(MEG3):n.8471A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 2644544	NR_046473.1(MEG3):n.9148A>G	MEG3	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2644545	NC_000014.9:g.100856066T>C	MEG3	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 2644546	NC_000014.9:g.100858254G>A	MEG3	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 2644547	NC_000014.9:g.100858307C>T	MEG3	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2644548	NC_000014.9:g.100859188G>C	MEG3	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 3044354	NC_000014.9:g.100860746G>C	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3037629	NC_000014.9:g.100860980G>A	MEG3	Single nucleotide variant (non-coding transcript variant)	MEG3-related disorder	GBenign
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2685501	GRCh37/hg19 14q32.2-32.31(chr14:101319804-101477345)x1	MIR433, RTL1 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 88