MLLT1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2649131	NM_005934.4(MLLT1):c.1643G>A (p.Arg548His)	MLLT1 (R548H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543495	NM_005934.4(MLLT1):c.1630G>A (p.Glu544Lys)	MLLT1 (E544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204339	NM_005934.4(MLLT1):c.1460A>G (p.Lys487Arg)	MLLT1 (K487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204309	NM_005934.4(MLLT1):c.1426C>T (p.Pro476Ser)	MLLT1 (P476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242890	NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)	MLLT1 (R473Q)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GLikely pathogenic
Select item 2486738	NM_005934.4(MLLT1):c.1364G>A (p.Arg455His)	MLLT1 (R455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359068	NM_005934.4(MLLT1):c.1345G>A (p.Asp449Asn)	MLLT1 (D449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204201	NM_005934.4(MLLT1):c.1103A>C (p.Lys368Thr)	MLLT1 (K368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247363	NM_005934.4(MLLT1):c.1057G>A (p.Ala353Thr)	MLLT1 (A353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204587	NM_005934.4(MLLT1):c.974C>T (p.Ser325Leu)	MLLT1 (S325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372546	NM_005934.4(MLLT1):c.938G>C (p.Gly313Ala)	MLLT1 (G313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610859	NM_005934.4(MLLT1):c.925C>T (p.Arg309Trp)	MLLT1 (R309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620369	NM_005934.4(MLLT1):c.886A>G (p.Ser296Gly)	MLLT1 (S296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204465	NM_005934.4(MLLT1):c.860C>T (p.Pro287Leu)	MLLT1 (P287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718642	NM_005934.4(MLLT1):c.689C>T (p.Ser230Leu)	MLLT1 (S230L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3204433	NM_005934.4(MLLT1):c.554A>G (p.Asn185Ser)	MLLT1 (N185S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560087	NM_005934.4(MLLT1):c.469G>A (p.Asp157Asn)	MLLT1 (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620930	NM_005934.4(MLLT1):c.449C>A (p.Thr150Lys)	MLLT1 (T150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 29