"Revvity Omics, Revvity"[submitter] AND "KAT6A"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689272	NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)	KAT6A (P1850S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GUncertain significance
Select item 2690628	NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)	KAT6A (P1721fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1918438	NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)	KAT6A (K1633R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432969	NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)	KAT6A (G1590R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 419627	NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)	KAT6A (G1549S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432964	NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)	KAT6A (S1548N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432963	NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)	KAT6A (Q1511H)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432962	NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)	KAT6A (T1510A)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1323134	NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs)	KAT6A (Q1467fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2432965	NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)	KAT6A (S1458N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432966	NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)	KAT6A (K1170N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432967	NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)	KAT6A (R1129Q)	Single nucleotide variant (missense variant)	KAT6A-related condition +1 more	GUncertain significance
Select item 180229	NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)	KAT6A (R1129*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1223761	NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe)	KAT6A (L1088F)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2689273	NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)	KAT6A (E1078D)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432968	NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)	KAT6A (Q743R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1991061	NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)	KAT6A (F739L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2689274	NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)	KAT6A (K404E)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2172976	NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)	KAT6A (T347M)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 489323	NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)	KAT6A (R317*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2689271	NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)	KAT6A (R299C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1935032	NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)	KAT6A (N277S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2184902	NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)	KAT6A (R269Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 620554	NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter)	KAT6A (R269*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GPathogenic
Select item 2432961	NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)	KAT6A (K198T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GUncertain significance

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Items: 25