"Revvity Omics, Revvity"[submitter] AND "KMT2E"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 421159	NM_182931.3(KMT2E):c.417-2dup	KMT2E	Duplication (splice acceptor variant)	O'Donnell-Luria-Rodan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2068188	NM_182931.3(KMT2E):c.946A>T (p.Met316Leu)	KMT2E (M316L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 2218979	NM_182931.3(KMT2E):c.2924C>T (p.Thr975Ile)	KMT2E (T975I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2416309	NM_182931.3(KMT2E):c.4540A>G (p.Thr1514Ala)	KMT2E (T1472A +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome +2 more	GUncertain significance
Select item 2433256	NM_182931.3(KMT2E):c.4650_4658del (p.Pro1551_Ser1553del)	KMT2E	Deletion (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 2404313	NM_182931.3(KMT2E):c.4913C>T (p.Pro1638Leu)	KMT2E (P1638L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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