"Revvity Omics, Revvity"[submitter] AND "KMT2B"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433179	NM_014727.3(KMT2B):c.449G>A (p.Arg150Gln)	KMT2B (R150Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689328	NM_014727.3(KMT2B):c.652C>T (p.Arg218Trp)	KMT2B (R218W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689323	NM_014727.3(KMT2B):c.849_866del (p.Gln284_Gly289del)	KMT2B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2433177	NM_014727.3(KMT2B):c.1303C>G (p.Pro435Ala)	KMT2B (P435A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2433175	NM_014727.3(KMT2B):c.1384C>G (p.Pro462Ala)	KMT2B (P462A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248509	NM_014727.3(KMT2B):c.1435C>T (p.Arg479Trp)	KMT2B (R479W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689322	NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu)	KMT2B (P597L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2689327	NM_014727.3(KMT2B):c.1886C>T (p.Pro629Leu)	KMT2B (P629L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689324	NM_014727.3(KMT2B):c.1990T>C (p.Ser664Pro)	KMT2B (S664P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649736	NM_014727.3(KMT2B):c.2624CTG[1] (p.Ala876del)	KMT2B (A876del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1335338	NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn)	KMT2B (D1698N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2689325	NM_014727.3(KMT2B):c.5226T>C (p.Thr1742=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1687549	NM_014727.3(KMT2B):c.5230_5233del (p.Ser1744fs)	KMT2B (S1744fs)	Microsatellite (frameshift variant)	Dystonia 28, childhood-onset +1 more	GPathogenic
Select item 2689326	NM_014727.3(KMT2B):c.5276+9T>C	KMT2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2433174	NM_014727.3(KMT2B):c.6125T>C (p.Val2042Ala)	KMT2B (V2042A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433178	NM_014727.3(KMT2B):c.6268G>A (p.Val2090Ile)	KMT2B (V2090I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433176	NM_014727.3(KMT2B):c.6296_6297inv (p.Ala2099Val)	KMT2B (A2099V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2441009	NM_014727.3(KMT2B):c.6301del (p.Asp2101fs)	KMT2B (D2101fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433181	NM_014727.3(KMT2B):c.7595G>A (p.Arg2532Gln)	KMT2B (R2532Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433180	NM_014727.3(KMT2B):c.7651T>A (p.Ser2551Thr)	KMT2B (S2551T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 20