"GeneDx"[submitter] AND "KAT6A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 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 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +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 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 3370571	NM_006766.5(KAT6A):c.5978C>G (p.Pro1993Arg)	KAT6A (P1993R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2572729	NM_006766.5(KAT6A):c.5904G>A (p.Met1968Ile)	KAT6A (M1968I)	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 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 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 1810009	NM_006766.5(KAT6A):c.5788C>T (p.Pro1930Ser)	KAT6A (P1930S)	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 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 445654	NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)	KAT6A (M1914V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2501340	NM_006766.5(KAT6A):c.5701G>C (p.Val1901Leu)	KAT6A (V1901L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1207257	NM_006766.5(KAT6A):c.5683C>T (p.Arg1895Cys)	KAT6A (R1895C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 489019	NM_006766.5(KAT6A):c.5639C>A (p.Ser1880Ter)	KAT6A (S1880*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1917097	NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)	KAT6A (R1877C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1213003	NM_006766.5(KAT6A):c.5601G>A (p.Ala1867=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1287491	NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys)	KAT6A (S1866C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1311705	NM_006766.5(KAT6A):c.5594C>T (p.Pro1865Leu)	KAT6A (P1865L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207709	NM_006766.5(KAT6A):c.5586G>A (p.Ala1862=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1480143	NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val)	KAT6A (A1862V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2135543	NM_006766.5(KAT6A):c.5570T>C (p.Ile1857Thr)	KAT6A (I1857T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817973	NM_006766.5(KAT6A):c.5566del (p.Ser1856fs)	KAT6A (S1856fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 280240	NM_006766.5(KAT6A):c.5546_5555del (p.Met1849fs)	KAT6A (M1849fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2572688	NM_006766.5(KAT6A):c.5554A>G (p.Lys1852Glu)	KAT6A (K1852E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588011	NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3372925	NM_006766.5(KAT6A):c.5510T>C (p.Ile1837Thr)	KAT6A (I1837T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209314	NM_006766.5(KAT6A):c.5494A>G (p.Met1832Val)	KAT6A (M1832V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1810644	NM_006766.5(KAT6A):c.5449G>A (p.Ala1817Thr)	KAT6A (A1817T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588207	NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1305371	NM_006766.5(KAT6A):c.5366C>G (p.Thr1789Arg)	KAT6A (T1789R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219823	NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys)	KAT6A (Y1780C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3364026	NM_006766.5(KAT6A):c.5311T>C (p.Tyr1771His)	KAT6A (Y1771H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589656	NM_006766.5(KAT6A):c.5259A>G (p.Leu1753=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 523923	NM_006766.5(KAT6A):c.5248_5257del (p.Ala1749_Thr1750insTer)	KAT6A	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 1262345	NM_006766.5(KAT6A):c.5241A>G (p.Pro1747=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1800736	NM_006766.5(KAT6A):c.5234C>G (p.Ser1745Cys)	KAT6A (S1745C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446267	NM_006766.5(KAT6A):c.5210G>A (p.Gly1737Glu)	KAT6A (G1737E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905160	NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)	KAT6A (Y1732C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1198558	NM_006766.5(KAT6A):c.5185A>T (p.Ile1729Leu)	KAT6A (I1729L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1310411	NM_006766.5(KAT6A):c.5135C>T (p.Thr1712Ile)	KAT6A (T1712I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083140	NM_006766.5(KAT6A):c.5102C>T (p.Pro1701Leu)	KAT6A (P1701L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2580060	NM_006766.5(KAT6A):c.5075C>T (p.Pro1692Leu)	KAT6A (P1692L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589281	NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])	KAT6A	Deletion (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 1248835	NM_006766.5(KAT6A):c.5036C>T (p.Pro1679Leu)	KAT6A (P1679L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 589573	NM_006766.5(KAT6A):c.5019ACC[3] (p.Pro1675dup)	KAT6A	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 1934155	NM_006766.5(KAT6A):c.4953_5015del (p.Pro1655_Pro1675del)	KAT6A	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 3342422	NM_006766.5(KAT6A):c.4993CAACCA[3] (p.Pro1668_Ala1669insGlnPro)	KAT6A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 587892	NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)	KAT6A	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300918	NM_006766.5(KAT6A):c.4982C>T (p.Pro1661Leu)	KAT6A (P1661L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 588080	NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del)	KAT6A	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 589069	NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588016	NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup)	KAT6A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 445624	NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu)	KAT6A (P1651L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 587956	NM_006766.5(KAT6A):c.4914C>T (p.Cys1638=)	KAT6A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1719531	NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr)	KAT6A (A1628T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 587916	NM_006766.5(KAT6A):c.4872C>G (p.Val1624=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1707773	NM_006766.5(KAT6A):c.4859A>G (p.Gln1620Arg)	KAT6A (Q1620R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206430	NM_006766.5(KAT6A):c.4837_4854dup (p.Gly1613_Met1618dup)	KAT6A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 451851	NM_006766.5(KAT6A):c.4819C>T (p.Gln1607Ter)	KAT6A (Q1607*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3343405	NM_006766.5(KAT6A):c.4808G>C (p.Cys1603Ser)	KAT6A (C1603S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303206	NM_006766.5(KAT6A):c.4804A>G (p.Ser1602Gly)	KAT6A (S1602G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721663	NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3367400	NM_006766.5(KAT6A):c.4754G>A (p.Ser1585Asn)	KAT6A (S1585N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313294	NM_006766.5(KAT6A):c.4752G>C (p.Gln1584His)	KAT6A (Q1584H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199128	NM_006766.5(KAT6A):c.4722C>T (p.Gly1574=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504338	NM_006766.5(KAT6A):c.4708G>A (p.Asp1570Asn)	KAT6A (D1570N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252501	NM_006766.5(KAT6A):c.4707C>T (p.Tyr1569=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3371687	NM_006766.5(KAT6A):c.4682A>C (p.Glu1561Ala)	KAT6A (E1561A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499864	NM_006766.5(KAT6A):c.4658T>C (p.Leu1553Pro)	KAT6A (L1553P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419627	NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)	KAT6A (G1549S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GPathogenic/Likely pathogenic
Select item 589286	NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1307891	NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu)	KAT6A (M1532L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2507158	NM_006766.5(KAT6A):c.4592C>G (p.Pro1531Arg)	KAT6A (P1531R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663302	NM_006766.5(KAT6A):c.4571T>C (p.Met1524Thr)	KAT6A (M1524T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328779	NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile)	KAT6A (T1510I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 587817	NM_006766.5(KAT6A):c.4455C>T (p.Ser1485=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2503241	NM_006766.5(KAT6A):c.4444C>T (p.Pro1482Ser)	KAT6A (P1482S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422237	NM_006766.5(KAT6A):c.4399C>T (p.Gln1467Ter)	KAT6A (Q1467*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2430961	NM_006766.5(KAT6A):c.4396C>T (p.Pro1466Ser)	KAT6A (P1466S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300277	NM_006766.5(KAT6A):c.4394A>G (p.Asp1465Gly)	KAT6A (D1465G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 391696	NM_006766.5(KAT6A):c.4381C>T (p.Gln1461Ter)	KAT6A (Q1461*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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