MLLT6[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998059	t(11;17)(q23;q12-q21)	KMT2A, MLLT6	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2393458	NM_005937.4(MLLT6):c.83A>G (p.His28Arg)	MLLT6 (H28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791346	NM_005937.4(MLLT6):c.288A>G (p.Gln96=)	MLLT6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326861	NM_005937.4(MLLT6):c.511G>A (p.Val171Ile)	MLLT6 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405083	NM_005937.4(MLLT6):c.563G>A (p.Arg188Gln)	MLLT6 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384412	NM_005937.4(MLLT6):c.616G>C (p.Gly206Arg)	MLLT6 (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252263	NM_005937.4(MLLT6):c.619G>A (p.Gly207Arg)	MLLT6 (G207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787451	NM_005937.4(MLLT6):c.702C>T (p.His234=)	MLLT6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3295197	NM_005937.4(MLLT6):c.790A>C (p.Thr264Pro)	MLLT6 (T264P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590025	NM_005937.4(MLLT6):c.799G>A (p.Val267Met)	MLLT6 (V267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538739	NM_005937.4(MLLT6):c.866A>C (p.Gln289Pro)	MLLT6 (Q289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208338	NM_005937.4(MLLT6):c.881G>A (p.Ser294Asn)	MLLT6 (S294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216093	NM_005937.4(MLLT6):c.982T>G (p.Ser328Ala)	MLLT6 (S328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206800	NM_005937.4(MLLT6):c.1058C>G (p.Pro353Arg)	MLLT6 (P353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561223	NM_005937.4(MLLT6):c.1166C>A (p.Pro389His)	MLLT6 (P389H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206883	NM_005937.4(MLLT6):c.1169A>T (p.Lys390Met)	MLLT6 (K390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544211	NM_005937.4(MLLT6):c.1222C>T (p.Arg408Cys)	MLLT6 (R408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206945	NM_005937.4(MLLT6):c.1228T>A (p.Ser410Thr)	MLLT6 (S410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217004	NM_005937.4(MLLT6):c.1259G>A (p.Arg420Gln)	MLLT6 (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357013	NM_005937.4(MLLT6):c.1262C>T (p.Ala421Val)	MLLT6 (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620850	NM_005937.4(MLLT6):c.1406A>C (p.Lys469Thr)	MLLT6 (K469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620238	NM_005937.4(MLLT6):c.1423C>T (p.Arg475Cys)	MLLT6 (R475C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350659	NM_005937.4(MLLT6):c.1501G>T (p.Ala501Ser)	MLLT6 (A501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222739	NM_005937.4(MLLT6):c.1592C>A (p.Thr531Asn)	MLLT6 (T531N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521268	NM_005937.4(MLLT6):c.1634C>T (p.Ser545Phe)	MLLT6 (S545F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378923	NM_005937.4(MLLT6):c.1703G>A (p.Arg568Gln)	MLLT6 (R568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255710	NM_005937.4(MLLT6):c.1742G>A (p.Gly581Glu)	MLLT6 (G581E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207216	NM_005937.4(MLLT6):c.1757C>T (p.Ser586Leu)	MLLT6 (S586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242515	NM_005937.4(MLLT6):c.1798C>T (p.Leu600Phe)	MLLT6 (L600F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545903	NM_005937.4(MLLT6):c.1903G>C (p.Val635Leu)	MLLT6 (V635L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288040	NM_005937.4(MLLT6):c.1954G>C (p.Glu652Gln)	MLLT6 (E652Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207310	NM_005937.4(MLLT6):c.1975C>T (p.Arg659Trp)	MLLT6 (R659W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207340	NM_005937.4(MLLT6):c.2033C>A (p.Ala678Glu)	MLLT6 (A678E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207372	NM_005937.4(MLLT6):c.2071G>A (p.Gly691Ser)	MLLT6 (G691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295199	NM_005937.4(MLLT6):c.2165T>C (p.Met722Thr)	MLLT6 (M722T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207407	NM_005937.4(MLLT6):c.2263G>A (p.Val755Met)	MLLT6 (V755M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475036	NM_005937.4(MLLT6):c.2332C>T (p.Pro778Ser)	MLLT6 (P778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295198	NM_005937.4(MLLT6):c.2363G>A (p.Ser788Asn)	MLLT6 (S788N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593040	NM_005937.4(MLLT6):c.2462C>T (p.Pro821Leu)	MLLT6 (P821L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207507	NM_005937.4(MLLT6):c.2515C>T (p.Leu839Phe)	MLLT6 (L839F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375505	NM_005937.4(MLLT6):c.2555C>G (p.Pro852Arg)	MLLT6 (P852R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207578	NM_005937.4(MLLT6):c.2606C>T (p.Ala869Val)	MLLT6 (A869V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552739	NM_005937.4(MLLT6):c.2684C>G (p.Pro895Arg)	MLLT6 (P895R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620975	NM_005937.4(MLLT6):c.2707T>A (p.Leu903Met)	MLLT6 (L903M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348002	NM_005937.4(MLLT6):c.2723C>T (p.Ala908Val)	MLLT6 (A908V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597994	NM_005937.4(MLLT6):c.2734G>A (p.Ala912Thr)	MLLT6 (A912T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207728	NM_005937.4(MLLT6):c.2758G>T (p.Ala920Ser)	MLLT6 (A920S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620024	NM_005937.4(MLLT6):c.2765C>T (p.Thr922Met)	MLLT6 (T922M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400230	NM_005937.4(MLLT6):c.2839C>A (p.Leu947Ile)	MLLT6 (L947I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273149	NM_005937.4(MLLT6):c.2867C>G (p.Ser956Cys)	MLLT6 (S956C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546080	NM_005937.4(MLLT6):c.2993C>G (p.Ala998Gly)	MLLT6 (A998G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207897	NM_005937.4(MLLT6):c.3005C>T (p.Thr1002Ile)	MLLT6 (T1002I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245733	NM_005937.4(MLLT6):c.3059C>T (p.Pro1020Leu)	MLLT6 (P1020L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492373	NM_005937.4(MLLT6):c.3070G>C (p.Ala1024Pro)	MLLT6 (A1024P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539474	NM_005937.4(MLLT6):c.3083T>C (p.Val1028Ala)	MLLT6 (V1028A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363176	NM_005937.4(MLLT6):c.3119C>T (p.Ala1040Val)	MLLT6 (A1040V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204953	NM_005937.4(MLLT6):c.3251A>G (p.Lys1084Arg)	MLLT6 (K1084R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394266	GRCh37/hg19 17q12(chr17:36827964-36886940)x3	CISD3, EPOP +1 more	Copy number gain	See cases	GUncertain significance

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Items: 66