KAT6A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	LOC126860374, LOC126860375 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000302, LOC130000303 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	ANK1, AP3M2 +86 more	Copy number gain	See cases	GPathogenic
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)	not provided +2 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)	Inborn genetic diseases +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 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 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 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 +1 more	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)	KAT6A-related condition +1 more	GUncertain significance
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 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 1749668	NM_006766.5(KAT6A):c.5791A>G (p.Met1931Val)	KAT6A (M1931V)	Single nucleotide variant (missense variant)	not provided +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 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)	not provided +2 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

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