MIR31HG[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 545378	Single allele	CDKN2A, CDKN2A-AS1 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152118	GRCh38/hg38 9p21.3(chr9:21150820-21517343)x3	IFNA1, IFNA10 +23 more	Copy number gain	See cases	GLikely benign
Select item 153390	GRCh38/hg38 9p21.3(chr9:21435578-21645004)x1	IFNA1, IFNE +5 more	Copy number loss	See cases	GUncertain significance
Select item 2516540	NM_176891.5(IFNE):c.521G>A (p.Arg174Gln)	IFNE, MIR31HG (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317006	NM_176891.5(IFNE):c.446G>A (p.Arg149Gln)	IFNE, MIR31HG (R149Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240667	NM_176891.5(IFNE):c.445C>G (p.Arg149Gly)	IFNE, MIR31HG (R149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034076	NM_176891.5(IFNE):c.435A>T (p.Lys145Asn)	IFNE, MIR31HG (K145N)	Single nucleotide variant (missense variant)	IFNE-related disorder	GLikely benign
Select item 2456668	NM_176891.5(IFNE):c.404T>C (p.Leu135Ser)	IFNE, MIR31HG (L135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600850	NM_176891.5(IFNE):c.391C>A (p.Leu131Ile)	IFNE, MIR31HG (L131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267342	NM_176891.5(IFNE):c.328C>G (p.Leu110Val)	IFNE, MIR31HG (L110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609866	NM_176891.5(IFNE):c.327C>A (p.Phe109Leu)	IFNE, MIR31HG (F109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262567	NM_176891.5(IFNE):c.317C>T (p.Thr106Met)	IFNE, MIR31HG (T106M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477185	NM_176891.5(IFNE):c.310A>G (p.Asn104Asp)	IFNE, MIR31HG (N104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537523	NM_176891.5(IFNE):c.278G>A (p.Arg93Lys)	IFNE, MIR31HG (R93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326775	NM_176891.5(IFNE):c.253C>T (p.Leu85Phe)	IFNE, MIR31HG (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108289	NM_176891.5(IFNE):c.229A>C (p.Thr77Pro)	IFNE, MIR31HG (T77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553356	NM_176891.5(IFNE):c.187C>G (p.Pro63Ala)	IFNE, MIR31HG (P63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285371	NM_176891.5(IFNE):c.122T>G (p.Leu41Arg)	IFNE, MIR31HG (L41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285372	NM_176891.5(IFNE):c.67G>C (p.Asp23His)	IFNE, MIR31HG (D23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462643	NM_176891.5(IFNE):c.50C>T (p.Thr17Ile)	IFNE, MIR31HG (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 54