MIOS[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 149268	GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3	C1GALT1, COL28A1 +42 more	Copy number gain	See cases	GLikely benign
Select item 148676	GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)x3	C1GALT1, COL28A1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 2597004	NM_019005.4(MIOS):c.142G>A (p.Asp48Asn)	MIOS (D48N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526731	NM_019005.4(MIOS):c.434G>C (p.Trp145Ser)	MIOS (W145S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219636	NM_019005.4(MIOS):c.455C>A (p.Thr152Asn)	MIOS (T152N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472803	NM_019005.4(MIOS):c.472A>T (p.Met158Leu)	MIOS (M158L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522332	NM_019005.4(MIOS):c.741G>C (p.Gln247His)	MIOS (Q247H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728748	NM_019005.4(MIOS):c.747A>G (p.Ala249=)	MIOS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616177	NM_019005.4(MIOS):c.841G>A (p.Gly281Ser)	MIOS (G281S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2657318	NM_019005.4(MIOS):c.864G>A (p.Arg288=)	MIOS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2402704	NM_019005.4(MIOS):c.1169T>C (p.Ile390Thr)	MIOS (I390T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536574	NM_019005.4(MIOS):c.1201A>G (p.Arg401Gly)	MIOS (R401G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210388	NM_019005.4(MIOS):c.1213G>C (p.Asp405His)	MIOS (D405H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205446	NM_019005.4(MIOS):c.1249G>A (p.Gly417Arg)	MIOS (G417R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602600	NM_019005.4(MIOS):c.1286C>T (p.Thr429Ile)	MIOS (T429I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287393	NM_019005.4(MIOS):c.1511C>T (p.Thr504Met)	MIOS (T504M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208299	NM_019005.4(MIOS):c.1543C>A (p.Leu515Ile)	MIOS (L515I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550880	NM_019005.4(MIOS):c.1590C>G (p.Phe530Leu)	MIOS (F530L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556252	NM_019005.4(MIOS):c.1604G>A (p.Arg535His)	MIOS (R535H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553492	NM_019005.4(MIOS):c.1616A>G (p.Gln539Arg)	MIOS (Q539R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324268	NM_019005.4(MIOS):c.1729A>G (p.Ser577Gly)	MIOS (S577G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 771410	NM_019005.4(MIOS):c.1749A>G (p.Leu583=)	MIOS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2614275	NM_019005.4(MIOS):c.1843G>A (p.Asp615Asn)	MIOS (D615N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387904	NM_019005.4(MIOS):c.1966A>G (p.Lys656Glu)	MIOS (K656E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2397992	NM_019005.4(MIOS):c.2177G>T (p.Ser726Ile)	MIOS (S726I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2369664	NM_019005.4(MIOS):c.2191G>C (p.Ala731Pro)	MIOS (A731P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2657319	NM_019005.4(MIOS):c.2310T>G (p.Ser770=)	MIOS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2322233	NM_019005.4(MIOS):c.2465A>G (p.Asn822Ser)	MIOS (N718S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299262	NM_019005.4(MIOS):c.2512C>G (p.His838Asp)	MIOS (H734D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2657320	NM_019005.4(MIOS):c.2553G>T (p.Val851=)	MIOS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810289	GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1	COL28A1, GLCCI1 +2 more	Copy number loss	not provided	Gnot provided
Select item 1808041	GRCh37/hg19 7p21.3(chr7:7617834-7677809)x1	MIOS, RPA3	Copy number loss	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 814928	GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3	C1GALT1, GLCCI1 +4 more	Copy number gain	not provided	GLikely benign
Select item 814927	GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3	COL28A1, GRID2IP +9 more	Copy number gain	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687162	GRCh37/hg19 7p22.1-21.3(chr7:6874384-7786461)x3	C1GALT1, COL28A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563391	GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3	ZNF12, INTS15 +9 more	Copy number gain	not provided	GLikely benign
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443457	GRCh37/hg19 7p22.1-21.3(chr7:7243998-7770203)x3	C1GALT1, COL28A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442294	GRCh37/hg19 7p21.3(chr7:7484861-9088037)x3	COL28A1, GLCCI1 +4 more	Copy number gain	See cases	GLikely benign
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394728	GRCh37/hg19 7p22.1-21.3(chr7:6870884-8177933)x3	C1GALT1, COL28A1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	ACTB, ADAP1 +80 more	Copy number gain	See cases	GPathogenic

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Items: 66