"SIB Swiss Institute of Bioinformatics"[submitter] AND "KMT2B"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374871	NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter)	KMT2B (R545*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GPathogenic/Likely pathogenic
Select item 374875	NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)	KMT2B (R564*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GPathogenic/Likely pathogenic
Select item 374873	NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter)	KMT2B (Q810*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 374876	NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter)	KMT2B (Y1515*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 549493	NM_014727.3(KMT2B):c.4955G>A (p.Gly1652Asp)	KMT2B (G1652D)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549479	NM_014727.3(KMT2B):c.4986C>A (p.Phe1662Leu)	KMT2B (F1662L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549489	NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln)	KMT2B (R1705Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GConflicting classifications of pathogenicity
Select item 549481	NM_014727.3(KMT2B):c.5284C>T (p.Arg1762Cys)	KMT2B (R1762C)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549496	NM_014727.3(KMT2B):c.5342T>C (p.Leu1781Pro)	KMT2B (L1781P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 374877	NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp)	KMT2B (R2517W)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549485	NM_014727.3(KMT2B):c.8021T>C (p.Ile2674Thr)	KMT2B (I2674T)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance