"Institute of Human Genetics, Cologne University"[submitter] AND "KMT2 - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098297	NM_182931.3(KMT2E):c.65del (p.Gly22fs)	KMT2E (G22fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1098301	NM_182931.3(KMT2E):c.183_186+2del	KMT2E	Deletion (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1098302	NM_182931.3(KMT2E):c.264A>G (p.Glu88=)	KMT2E	Single nucleotide variant (synonymous variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1098303	NM_182931.3(KMT2E):c.768+1G>A	KMT2E	Single nucleotide variant (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 982407	NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)	KMT2E (E369fs)	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1098298	NM_182931.3(KMT2E):c.1646_1650del (p.Ile549fs)	KMT2E (I549fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 599226	NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)	KMT2E (E685*)	Microsatellite (nonsense)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 986354	NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)	KMT2E (E703*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome +1 more	GPathogenic
Select item 1098299	NM_182931.3(KMT2E):c.2164_2167del (p.Lys722fs)	KMT2E (K722fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1098300	NM_182931.3(KMT2E):c.2714dup (p.Met906fs)	KMT2E (M906fs)	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1098304	NM_182931.3(KMT2E):c.2848-2A>C	KMT2E	Single nucleotide variant (splice acceptor variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1098295	NM_182931.3(KMT2E):c.3034C>T (p.Gln1012Ter)	KMT2E (Q1012*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1098296	NM_182931.3(KMT2E):c.4279C>T (p.Gln1427Ter)	KMT2E (Q1427*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1068464	NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)	KMT2E (L1610fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 950234	NM_182931.3(KMT2E):c.5054dup (p.Pro1686fs)	KMT2E (P1686fs)	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1098306	GRCh37/hg19 7q22.3(chr7:104730300-104791108)	KMT2E, SRPK2	Copy number loss	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1098305	GRCh37/hg19 7q22.3(chr7:104696686-105407628)	ATXN7L1, KMT2E +3 more	Copy number loss	O'Donnell-Luria-Rodan syndrome	GPathogenic