MYBL1[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	LOC130000495, LOC130000496 +150 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 2269802	NM_001080416.4(MYBL1):c.2053A>G (p.Asn685Asp)	MYBL1 (N685D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402275	NM_001080416.4(MYBL1):c.1987C>A (p.Pro663Thr)	MYBL1 (P663T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455474	NM_001080416.4(MYBL1):c.1962A>T (p.Arg654Ser)	MYBL1 (R654S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588922	NM_001080416.4(MYBL1):c.1940C>T (p.Ser647Leu)	MYBL1 (S647L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218621	NM_001080416.4(MYBL1):c.1918C>G (p.Gln640Glu)	MYBL1 (Q640E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560294	NM_001080416.4(MYBL1):c.1913G>C (p.Gly638Ala)	MYBL1 (G637A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319868	NM_001080416.4(MYBL1):c.1690G>A (p.Ala564Thr)	MYBL1 (A563T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298788	NM_001080416.4(MYBL1):c.1592A>G (p.Lys531Arg)	MYBL1 (K531R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411224	NM_001080416.4(MYBL1):c.1508T>C (p.Ile503Thr)	MYBL1 (I502T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408390	NM_001080416.4(MYBL1):c.1493A>G (p.Asn498Ser)	MYBL1 (N497S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243460	NM_001080416.4(MYBL1):c.1436C>T (p.Thr479Ile)	MYBL1 (T478I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369210	NM_001080416.4(MYBL1):c.1310T>C (p.Ile437Thr)	MYBL1 (I437T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367808	NM_001080416.4(MYBL1):c.1094T>C (p.Ile365Thr)	MYBL1 (I364T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521146	NM_001080416.4(MYBL1):c.995C>T (p.Ala332Val)	MYBL1 (A331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333180	NM_001080416.4(MYBL1):c.974A>T (p.Asp325Val)	MYBL1 (D324V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519880	NM_001080416.4(MYBL1):c.972G>A (p.Met324Ile)	MYBL1 (M324I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560237	NM_001080416.4(MYBL1):c.961T>C (p.Phe321Leu)	MYBL1 (F320L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287739	NM_001080416.4(MYBL1):c.810A>C (p.Glu270Asp)	MYBL1 (E270D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791292	NM_001080416.4(MYBL1):c.765A>G (p.Gln255=)	MYBL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757408	NM_001080416.4(MYBL1):c.754T>A (p.Phe252Ile)	MYBL1 (F252I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658633	NM_001080416.4(MYBL1):c.590G>A (p.Gly197Glu)	MYBL1 (G197E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2542880	NM_001080416.4(MYBL1):c.470T>G (p.Leu157Trp)	MYBL1 (L157W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658634	NM_001080416.4(MYBL1):c.204C>T (p.Arg68=)	MYBL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493144	NM_001080416.4(MYBL1):c.135A>C (p.Lys45Asn)	MYBL1 (K45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 495136	t(8;9)(q13.1;p22.3)	MYBL1, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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Items: 51