"Baylor Genetics"[submitter] AND "KMT2B"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031291	NM_014727.3(KMT2B):c.145C>A (p.Arg49Ser)	KMT2B, LOC130064258 (R49S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031293	NM_014727.3(KMT2B):c.278G>C (p.Arg93Pro)	KMT2B (R93P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 3238778	NM_014727.3(KMT2B):c.848G>T (p.Gly283Val)	KMT2B (G283V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 871234	NM_014727.3(KMT2B):c.1028G>A (p.Arg343Lys)	KMT2B (R343K)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 1031292	NM_014727.3(KMT2B):c.2003C>T (p.Pro668Leu)	KMT2B (P668L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 3237502	NM_014727.3(KMT2B):c.3458C>G (p.Ser1153Cys)	KMT2B (S1153C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 1031843	NM_014727.3(KMT2B):c.4762G>A (p.Gly1588Arg)	KMT2B (G1588R)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031844	NM_014727.3(KMT2B):c.5006C>T (p.Ala1669Val)	KMT2B (A1669V)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 2582490	NM_014727.3(KMT2B):c.5786C>T (p.Ala1929Val)	KMT2B (A1929V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 1031294	NM_014727.3(KMT2B):c.5974G>T (p.Asp1992Tyr)	KMT2B (D1992Y)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031295	NM_014727.3(KMT2B):c.6919T>C (p.Ser2307Pro)	KMT2B (S2307P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GUncertain significance
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic