KAT6A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1247574	NM_006766.5(KAT6A):c.*185C>G	KAT6A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2130438	NM_006766.5(KAT6A):c.6013T>A (p.Ter2005Arg)	KAT6A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2818618	NM_006766.5(KAT6A):c.6011G>C (p.Arg2004Thr)	KAT6A (R2004T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752577	NM_006766.5(KAT6A):c.6008G>T (p.Arg2003Ile)	KAT6A (R2003I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991189	NM_006766.5(KAT6A):c.6004A>G (p.Met2002Val)	KAT6A (M2002V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2413581	NM_006766.5(KAT6A):c.6000T>G (p.Pro2000=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124152	NM_006766.5(KAT6A):c.5997A>T (p.Gly1999=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1750920	NM_006766.5(KAT6A):c.5995G>A (p.Gly1999Arg)	KAT6A (G1999R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 588777	NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2969676	NM_006766.5(KAT6A):c.5993A>G (p.Asn1998Ser)	KAT6A (N1998S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752148	NM_006766.5(KAT6A):c.5988A>G (p.Ser1996=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1750857	NM_006766.5(KAT6A):c.5984A>G (p.Gln1995Arg)	KAT6A (Q1995R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1960171	NM_006766.5(KAT6A):c.5979C>T (p.Pro1993=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3370571	NM_006766.5(KAT6A):c.5978C>G (p.Pro1993Arg)	KAT6A (P1993R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979857	NM_006766.5(KAT6A):c.5974G>A (p.Val1992Met)	KAT6A (V1992M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 452008	NM_006766.5(KAT6A):c.5974G>C (p.Val1992Leu)	KAT6A (V1992L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960057	NM_006766.5(KAT6A):c.5973C>T (p.Gly1991=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2879433	NM_006766.5(KAT6A):c.5972G>T (p.Gly1991Val)	KAT6A (G1991V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3363828	NM_006766.5(KAT6A):c.5968G>A (p.Ala1990Thr)	KAT6A (A1990T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588426	NM_006766.5(KAT6A):c.5967T>C (p.Ala1989=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1306757	NM_006766.5(KAT6A):c.5966C>G (p.Ala1989Gly)	KAT6A (A1989G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182088	NM_006766.5(KAT6A):c.5964C>T (p.Asn1988=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1507773	NM_006766.5(KAT6A):c.5963A>G (p.Asn1988Ser)	KAT6A (N1988S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725629	NM_006766.5(KAT6A):c.5961G>A (p.Met1987Ile)	KAT6A (M1987I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337191	NM_006766.5(KAT6A):c.5959A>G (p.Met1987Val)	KAT6A (M1987V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876320	NM_006766.5(KAT6A):c.5955C>G (p.Ser1985Arg)	KAT6A (S1985R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798645	NM_006766.5(KAT6A):c.5943C>T (p.Pro1981=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1750625	NM_006766.5(KAT6A):c.5940C>A (p.Gly1980=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1927779	NM_006766.5(KAT6A):c.5930T>C (p.Met1977Thr)	KAT6A (M1977T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982731	NM_006766.5(KAT6A):c.5929A>G (p.Met1977Val)	KAT6A (M1977V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2718739	NM_006766.5(KAT6A):c.5928G>A (p.Met1976Ile)	KAT6A (M1976I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442800	NM_006766.5(KAT6A):c.5924A>G (p.Asn1975Ser)	KAT6A (N1975S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 589125	NM_006766.5(KAT6A):c.5921G>A (p.Gly1974Glu)	KAT6A (G1974E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2809595	NM_006766.5(KAT6A):c.5914C>T (p.Pro1972Ser)	KAT6A (P1972S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 588835	NM_006766.5(KAT6A):c.5913C>T (p.Asn1971=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2873034	NM_006766.5(KAT6A):c.5910T>C (p.Pro1970=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572729	NM_006766.5(KAT6A):c.5904G>A (p.Met1968Ile)	KAT6A (M1968I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962042	NM_006766.5(KAT6A):c.5902A>G (p.Met1968Val)	KAT6A (M1968V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850490	NM_006766.5(KAT6A):c.5902A>C (p.Met1968Leu)	KAT6A (M1968L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940693	NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr)	KAT6A (A1962T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1982153	NM_006766.5(KAT6A):c.5879G>A (p.Ser1960Asn)	KAT6A (S1960N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388829	NM_006766.5(KAT6A):c.5878A>C (p.Ser1960Arg)	KAT6A (S1960R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907750	NM_006766.5(KAT6A):c.5877G>A (p.Gly1959=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2230394	NM_006766.5(KAT6A):c.5866G>A (p.Gly1956Arg)	KAT6A (G1956R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2768415	NM_006766.5(KAT6A):c.5857A>G (p.Met1953Val)	KAT6A (M1953V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911960	NM_006766.5(KAT6A):c.5851A>G (p.Met1951Val)	KAT6A (M1951V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1946798	NM_006766.5(KAT6A):c.5843A>G (p.Gln1948Arg)	KAT6A (Q1948R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348547	NM_006766.5(KAT6A):c.5842C>A (p.Gln1948Lys)	KAT6A (Q1948K)	Single nucleotide variant (missense variant)	KAT6A-related disorder	GUncertain significance
Select item 2793434	NM_006766.5(KAT6A):c.5838A>G (p.Thr1946=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705121	NM_006766.5(KAT6A):c.5827A>G (p.Met1943Val)	KAT6A (M1943V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663098	NM_006766.5(KAT6A):c.5819C>T (p.Pro1940Leu)	KAT6A (P1940L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303386	NM_006766.5(KAT6A):c.5817C>A (p.Asn1939Lys)	KAT6A (N1939K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531984	NM_006766.5(KAT6A):c.5812A>G (p.Ser1938Gly)	KAT6A (S1938G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2320746	NM_006766.5(KAT6A):c.5810A>G (p.His1937Arg)	KAT6A (H1937R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310678	NM_006766.5(KAT6A):c.5809C>T (p.His1937Tyr)	KAT6A (H1937Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342305	NM_006766.5(KAT6A):c.5795T>C (p.Met1932Thr)	KAT6A (M1932T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1749668	NM_006766.5(KAT6A):c.5791A>G (p.Met1931Val)	KAT6A (M1931V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1810009	NM_006766.5(KAT6A):c.5788C>T (p.Pro1930Ser)	KAT6A (P1930S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183875	NM_006766.5(KAT6A):c.5787G>A (p.Gln1929=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3020188	NM_006766.5(KAT6A):c.5777G>A (p.Arg1926Gln)	KAT6A (R1926Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802401	NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)	KAT6A (R1926G)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1749552	NM_006766.5(KAT6A):c.5771G>A (p.Ser1924Asn)	KAT6A (S1924N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277714	NM_006766.5(KAT6A):c.5770A>G (p.Ser1924Gly)	KAT6A (S1924G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2834179	NM_006766.5(KAT6A):c.5765T>C (p.Met1922Thr)	KAT6A (M1922T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2281733	NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val)	KAT6A (M1922V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1749500	NM_006766.5(KAT6A):c.5763C>T (p.Ala1921=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2797407	NM_006766.5(KAT6A):c.5761G>A (p.Ala1921Thr)	KAT6A (A1921T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3287381	NM_006766.5(KAT6A):c.5757G>T (p.Leu1919Phe)	KAT6A (L1919F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2798089	NM_006766.5(KAT6A):c.5754C>T (p.Thr1918=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967052	NM_006766.5(KAT6A):c.5749A>G (p.Asn1917Asp)	KAT6A (N1917D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 445654	NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)	KAT6A (M1914V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 818162	NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys)	KAT6A (N1912K)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	Gnot provided
Select item 1967068	NM_006766.5(KAT6A):c.5735A>G (p.Asn1912Ser)	KAT6A (N1912S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2743747	NM_006766.5(KAT6A):c.5731G>A (p.Val1911Ile)	KAT6A (V1911I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719218	NM_006766.5(KAT6A):c.5730T>C (p.Asn1910=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1358066	NM_006766.5(KAT6A):c.5722G>A (p.Ala1908Thr)	KAT6A (A1908T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2584655	NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser)	KAT6A (N1902S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2501340	NM_006766.5(KAT6A):c.5701G>C (p.Val1901Leu)	KAT6A (V1901L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321924	NM_006766.5(KAT6A):c.5701del (p.Val1901fs)	KAT6A (V1901fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2815646	NM_006766.5(KAT6A):c.5700G>A (p.Gly1900=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499411	NM_006766.5(KAT6A):c.5696T>C (p.Met1899Thr)	KAT6A (M1899T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902041	NM_006766.5(KAT6A):c.5695A>G (p.Met1899Val)	KAT6A (M1899V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2850992	NM_006766.5(KAT6A):c.5694C>T (p.Asn1898=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1749093	NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser)	KAT6A (N1898S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1597696	NM_006766.5(KAT6A):c.5688C>T (p.Gly1896=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2968773	NM_006766.5(KAT6A):c.5684G>A (p.Arg1895His)	KAT6A (R1895H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207257	NM_006766.5(KAT6A):c.5683C>T (p.Arg1895Cys)	KAT6A (R1895C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2708019	NM_006766.5(KAT6A):c.5679T>C (p.Val1893=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966754	NM_006766.5(KAT6A):c.5668G>T (p.Ala1890Ser)	KAT6A (A1890S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725886	NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr)	KAT6A (A1890T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1935973	NM_006766.5(KAT6A):c.5667C>T (p.Arg1889=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734321	NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His)	KAT6A (R1889H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2983122	NM_006766.5(KAT6A):c.5665C>T (p.Arg1889Cys)	KAT6A (R1889C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919026	NM_006766.5(KAT6A):c.5662C>G (p.Pro1888Ala)	KAT6A (P1888A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2890617	NM_006766.5(KAT6A):c.5650A>G (p.Met1884Val)	KAT6A (M1884V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 817979	NM_006766.5(KAT6A):c.5645_5646delinsGCTGGCCGTA (p.Val1882fs)	KAT6A (V1882fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1186257	NM_006766.5(KAT6A):c.5644G>A (p.Val1882Ile)	KAT6A (V1882I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1923821	NM_006766.5(KAT6A):c.5643A>T (p.Ala1881=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570373	NM_006766.5(KAT6A):c.5643A>G (p.Ala1881=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912820	NM_006766.5(KAT6A):c.5641G>T (p.Ala1881Ser)	KAT6A (A1881S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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