Related gene-specific medical variations for Gene (Select 55904) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376547	NM_182931.3(KMT2E):c.1624_1625del (p.Glu542fs)	KMT2E (E542fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376546	NM_182931.3(KMT2E):c.1624G>T (p.Glu542Ter)	KMT2E (E542*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376545	NM_182931.3(KMT2E):c.923del (p.Gly308fs)	KMT2E (G308fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376544	NM_182931.3(KMT2E):c.71+1G>C	KMT2E	Single nucleotide variant (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3361727	NM_182931.3(KMT2E):c.182A>G (p.Tyr61Cys)	KMT2E (Y61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361582	NM_182931.3(KMT2E):c.2990C>A (p.Thr997Asn)	KMT2E (T997N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361328	NM_182931.3(KMT2E):c.4354A>G (p.Lys1452Glu)	KMT2E (K1410E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361086	NM_182931.3(KMT2E):c.2624G>A (p.Arg875Lys)	KMT2E (R875K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360959	NM_182931.3(KMT2E):c.1988A>T (p.Gln663Leu)	KMT2E (Q663L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360742	NM_182931.3(KMT2E):c.3404_3405delinsTT (p.Arg1135Leu)	KMT2E (R1135L)	Indel (missense variant)	not provided	GUncertain significance
Select item 3360055	NM_182931.3(KMT2E):c.379C>G (p.His127Asp)	KMT2E (H127D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359918	NM_182931.3(KMT2E):c.1757A>C (p.Gln586Pro)	KMT2E (Q586P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359766	NM_182931.3(KMT2E):c.4117T>G (p.Phe1373Val)	KMT2E (F1331V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359325	NM_182931.3(KMT2E):c.5299CAT[1] (p.His1768del)	KMT2E (H1726del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359299	NM_182931.3(KMT2E):c.5464C>T (p.His1822Tyr)	KMT2E (H1780Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359091	NM_182931.3(KMT2E):c.3970+1G>T	KMT2E	Single nucleotide variant (splice donor variant +1 more)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 3237518	NM_182931.3(KMT2E):c.1698G>C (p.Gln566His)	KMT2E (Q566H)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3067982	NM_182931.3(KMT2E):c.730-6_730-2del	KMT2E	Deletion (splice acceptor variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3062121	NM_182931.3(KMT2E):c.2555del (p.Asn852fs)	KMT2E (N852fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 2672119	NM_182931.3(KMT2E):c.4068G>C (p.Lys1356Asn)	KMT2E (K1314N +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2664038	NM_182931.3(KMT2E):c.241T>C (p.Ser81Pro)	KMT2E (S81P)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2584661	NM_182931.3(KMT2E):c.5539_5541del (p.Thr1847del)	KMT2E (T1805del +1 more)	Deletion (inframe_deletion)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2582434	NM_182931.3(KMT2E):c.13A>T (p.Ile5Phe)	KMT2E (I5F)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2442161	NM_182931.3(KMT2E):c.4695C>A (p.Asn1565Lys)	KMT2E (N1523K +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2442151	NM_182931.3(KMT2E):c.1474_1481del (p.Gly492fs)	KMT2E (G492fs)	Microsatellite (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2441909	NM_182931.3(KMT2E):c.4736A>T (p.Gln1579Leu)	KMT2E (Q1537L +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433257	NM_182931.3(KMT2E):c.986A>C (p.Lys329Thr)	KMT2E (K329T)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433255	NM_182931.3(KMT2E):c.991C>T (p.Pro331Ser)	KMT2E (P331S)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433254	NM_182931.3(KMT2E):c.5251C>T (p.Pro1751Ser)	KMT2E (P1709S +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433253	NM_182931.3(KMT2E):c.14T>A (p.Ile5Asn)	KMT2E (I5N)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433252	NM_182931.3(KMT2E):c.2321T>C (p.Leu774Ser)	KMT2E (L774S)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433251	NM_182931.3(KMT2E):c.316A>G (p.Ile106Val)	KMT2E (I106V)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2429981	NM_182931.3(KMT2E):c.3476T>C (p.Leu1159Pro)	KMT2E (L1159P)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2429980	NM_182931.3(KMT2E):c.1378G>T (p.Ala460Ser)	KMT2E (A460S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1700163	NM_182931.3(KMT2E):c.1321G>A (p.Glu441Lys)	KMT2E (E441K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700104	NM_182931.3(KMT2E):c.3241_3257del (p.Asn1081fs)	KMT2E (N1081fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1679586	NM_182931.3(KMT2E):c.3729T>A (p.Ser1243Arg)	KMT2E (S1243R)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 1676553	NC_000007.14:g.105112909C>T	KMT2E (P1718L)	Single nucleotide variant	not provided	GConflicting classifications of pathogenicity
Select item 1184323	NM_182931.3(KMT2E):c.670A>C (p.Asn224His)	KMT2E (N224H)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 1098680	NM_182931.3(KMT2E):c.2530A>G (p.Arg844Gly)	KMT2E (R844G)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance

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Links from Gene

Items: 40