C5193138[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1028609	NM_182931.3(KMT2E):c.1373A>T (p.Asp458Val)	KMT2E (D458V)	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 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 1029707	NM_182931.3(KMT2E):c.2848-1G>A	KMT2E	Single nucleotide variant (splice acceptor variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1029708	NM_182931.3(KMT2E):c.3757A>G (p.Thr1253Ala)	KMT2E (T1253A)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 1029709	NM_182931.3(KMT2E):c.4235C>T (p.Ser1412Leu)	KMT2E (S1412L)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome +1 more	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 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