DOT1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 725649	NM_032482.3(DOT1L):c.81+9C>G	AP3D1, DOT1L +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728331	NM_032482.3(DOT1L):c.219G>A (p.Arg73=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2663024	NM_032482.3(DOT1L):c.255C>G (p.Ile85Met)	DOT1L (I85M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663017	NM_032482.3(DOT1L):c.400G>A (p.Glu134Lys)	DOT1L (E134K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3085408	NM_032482.3(DOT1L):c.408C>T (p.Tyr136=)	DOT1L	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 777359	NM_032482.3(DOT1L):c.465C>T (p.Asp155=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777360	NM_032482.3(DOT1L):c.588+6C>T	DOT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2589412	NM_032482.3(DOT1L):c.598C>T (p.Arg200Cys)	DOT1L (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085413	NM_032482.3(DOT1L):c.686G>A (p.Arg229Lys)	DOT1L (R229K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648960	NM_032482.3(DOT1L):c.798C>T (p.Ile266=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269846	NM_032482.3(DOT1L):c.956G>A (p.Arg319His)	DOT1L (R319H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541834	NM_032482.3(DOT1L):c.1093G>A (p.Ala365Thr)	DOT1L (A365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509574	NM_032482.3(DOT1L):c.1096G>A (p.Gly366Ser)	DOT1L (G366S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720086	NM_032482.3(DOT1L):c.1104C>T (p.Ala368=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374536	NM_032482.3(DOT1L):c.1184G>A (p.Arg395His)	DOT1L (R395H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648961	NM_032482.3(DOT1L):c.1233C>T (p.Arg411=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327674	NM_032482.3(DOT1L):c.1292C>T (p.Thr431Ile)	DOT1L (T431I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085389	NM_032482.3(DOT1L):c.1312G>A (p.Ala438Thr)	DOT1L (A438T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273540	NM_032482.3(DOT1L):c.1321G>A (p.Val441Met)	DOT1L (V441M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372314	NM_032482.3(DOT1L):c.1352-2A>G	DOT1L	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2648962	NM_032482.3(DOT1L):c.1395G>A (p.Pro465=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273546	NM_032482.3(DOT1L):c.1418A>C (p.Asn473Thr)	DOT1L (N473T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085390	NM_032482.3(DOT1L):c.1429G>A (p.Val477Met)	DOT1L (V477M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293527	NM_032482.3(DOT1L):c.1433C>T (p.Ala478Val)	DOT1L (A478V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273544	NM_032482.3(DOT1L):c.1609C>G (p.Gln537Glu)	DOT1L (Q537E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265635	NM_032482.3(DOT1L):c.1619A>C (p.Lys540Thr)	DOT1L (K540T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343554	NM_032482.3(DOT1L):c.1634G>A (p.Arg545Lys)	DOT1L (R545K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085391	NM_032482.3(DOT1L):c.1641T>G (p.Phe547Leu)	DOT1L (F547L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322024	NM_032482.3(DOT1L):c.1651T>G (p.Leu551Val)	DOT1L (L551V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322429	NM_032482.3(DOT1L):c.1690C>A (p.Leu564Met)	DOT1L (L564M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273549	NM_032482.3(DOT1L):c.1769G>A (p.Arg590His)	DOT1L (R590H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2252105	NM_032482.3(DOT1L):c.1780G>A (p.Gly594Ser)	DOT1L (G594S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2430026	NM_032482.3(DOT1L):c.1792C>T (p.Gln598Ter)	DOT1L (Q598*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2726648	NM_032482.3(DOT1L):c.1812C>T (p.Cys604=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085393	NM_032482.3(DOT1L):c.2002G>A (p.Ala668Thr)	DOT1L (A668T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3273542	NM_032482.3(DOT1L):c.2074C>G (p.Leu692Val)	DOT1L (L692V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322430	NM_032482.3(DOT1L):c.2121G>C (p.Met707Ile)	DOT1L (M707I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268325	NM_032482.3(DOT1L):c.2126C>A (p.Pro709Gln)	DOT1L (P709Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273550	NM_032482.3(DOT1L):c.2143G>A (p.Gly715Ser)	DOT1L (G715S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530767	NM_032482.3(DOT1L):c.2183G>A (p.Arg728Gln)	DOT1L (R728Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085394	NM_032482.3(DOT1L):c.2248T>C (p.Cys750Arg)	DOT1L (C750R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233951	NM_032482.3(DOT1L):c.2260C>T (p.His754Tyr)	DOT1L (H754Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547927	NM_032482.3(DOT1L):c.2263G>A (p.Val755Ile)	DOT1L (V755I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381659	NM_032482.3(DOT1L):c.2269C>T (p.Arg757Trp)	DOT1L (R757W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085395	NM_032482.3(DOT1L):c.2273C>T (p.Pro758Leu)	DOT1L (P758L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795915	NM_032482.3(DOT1L):c.2274G>A (p.Pro758=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401425	NM_032482.3(DOT1L):c.2275C>T (p.Arg759Cys)	DOT1L (R759C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476169	NM_032482.3(DOT1L):c.2366A>G (p.His789Arg)	DOT1L (H789R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471974	NM_032482.3(DOT1L):c.2384C>T (p.Pro795Leu)	DOT1L (P795L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486498	NM_032482.3(DOT1L):c.2417A>G (p.His806Arg)	DOT1L (H806R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085396	NM_032482.3(DOT1L):c.2469G>T (p.Met823Ile)	DOT1L (M823I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2691705	NM_032482.3(DOT1L):c.2545-4G>A	DOT1L	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2648963	NM_032482.3(DOT1L):c.2560G>A (p.Ala854Thr)	DOT1L (A854T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2219836	NM_032482.3(DOT1L):c.2564A>T (p.Tyr855Phe)	DOT1L (Y855F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721697	NM_032482.3(DOT1L):c.2679C>T (p.Arg893=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1331596	NM_032482.3(DOT1L):c.2691+1G>A	DOT1L	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3273557	NM_032482.3(DOT1L):c.2728C>G (p.Pro910Ala)	DOT1L (P910A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405317	NM_032482.3(DOT1L):c.2737A>T (p.Thr913Ser)	DOT1L (T913S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273543	NM_032482.3(DOT1L):c.2885C>T (p.Pro962Leu)	DOT1L (P962L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2262334	NM_032482.3(DOT1L):c.2891C>A (p.Thr964Asn)	DOT1L (T964N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273554	NM_032482.3(DOT1L):c.2919C>A (p.Ser973Arg)	DOT1L (S973R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209481	NM_032482.3(DOT1L):c.2942G>A (p.Arg981His)	DOT1L (R981H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272799	NM_032482.3(DOT1L):c.2983C>T (p.Arg995Trp)	DOT1L (R995W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591238	NM_032482.3(DOT1L):c.2990C>T (p.Ser997Leu)	DOT1L (S997L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085397	NM_032482.3(DOT1L):c.3007G>C (p.Ala1003Pro)	DOT1L (A1003P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273558	NM_032482.3(DOT1L):c.3023C>G (p.Ser1008Cys)	DOT1L (S1008C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085398	NM_032482.3(DOT1L):c.3034C>G (p.Leu1012Val)	DOT1L (L1012V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085399	NM_032482.3(DOT1L):c.3064G>A (p.Glu1022Lys)	DOT1L (E1022K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085400	NM_032482.3(DOT1L):c.3074A>G (p.Lys1025Arg)	DOT1L (K1025R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376046	NM_032482.3(DOT1L):c.3116G>T (p.Ser1039Ile)	DOT1L (S1039I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372784	NM_032482.3(DOT1L):c.3145_3153delinsTGAGAGTGAAGCCAA (p.Ile1049_Thr1051delinsTer)	DOT1L	Indel (nonsense)	not provided	GUncertain significance
Select item 2648964	NM_032482.3(DOT1L):c.3157G>A (p.Ala1053Thr)	DOT1L (A1053T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2309275	NM_032482.3(DOT1L):c.3192C>G (p.His1064Gln)	DOT1L (H1064Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718640	NM_032482.3(DOT1L):c.3204C>T (p.Thr1068=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2394989	NM_032482.3(DOT1L):c.3211G>A (p.Ala1071Thr)	DOT1L (A1071T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306564	NM_032482.3(DOT1L):c.3262C>T (p.Arg1088Trp)	DOT1L (R1088W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3367753	NM_032482.3(DOT1L):c.3271C>T (p.Arg1091Ter)	DOT1L (R1091*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3273548	NM_032482.3(DOT1L):c.3281C>T (p.Ala1094Val)	DOT1L (A1094V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322136	NM_032482.3(DOT1L):c.3289C>T (p.Pro1097Ser)	DOT1L (P1097S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275709	NM_032482.3(DOT1L):c.3290C>A (p.Pro1097His)	DOT1L (P1097H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778805	NM_032482.3(DOT1L):c.3303A>T (p.Ala1101=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3369091	NM_032482.3(DOT1L):c.3322C>T (p.Arg1108Ter)	DOT1L (R1108*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3273556	NM_032482.3(DOT1L):c.3322C>G (p.Arg1108Gly)	DOT1L (R1108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727143	NM_032482.3(DOT1L):c.3393C>T (p.Val1131=)	DOT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2554540	NM_032482.3(DOT1L):c.3517A>T (p.Ser1173Cys)	DOT1L (S1173C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085401	NM_032482.3(DOT1L):c.3527A>G (p.Asn1176Ser)	DOT1L (N1176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085402	NM_032482.3(DOT1L):c.3536A>G (p.His1179Arg)	DOT1L (H1179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085403	NM_032482.3(DOT1L):c.3559G>A (p.Glu1187Lys)	DOT1L (E1187K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085404	NM_032482.3(DOT1L):c.3644C>T (p.Pro1215Leu)	DOT1L (P1215L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482554	NM_032482.3(DOT1L):c.3665G>T (p.Gly1222Val)	DOT1L (G1222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270782	NM_032482.3(DOT1L):c.3689C>T (p.Ala1230Val)	DOT1L (A1230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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