C4225396[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238812	NM_006766.5(KAT6A):c.5575T>A (p.Ser1859Thr)	KAT6A (S1859T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028560	NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp)	KAT6A (H1767D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2582558	NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)	KAT6A (Q1746fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1028559	NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu)	KAT6A (P1736L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028558	NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr)	KAT6A (P1654T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 588522	NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del)	KAT6A (S1597del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1034309	NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr)	KAT6A (M1533T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028557	NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu)	KAT6A (P1482L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2441906	NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)	KAT6A (K1410fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1028556	NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly)	KAT6A (S1260G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582345	NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)	KAT6A (T1210N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 280873	NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)	KAT6A (R1169*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1028555	NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser)	KAT6A (P997S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028554	NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys)	KAT6A (G983C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028553	NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg)	KAT6A (G931R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1034308	NM_006766.5(KAT6A):c.2463del (p.Asn821fs)	KAT6A (N821fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 419207	NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)	KAT6A (R311*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GPathogenic