ClinVar for Gene (Select 7994) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355931	NM_006766.5(KAT6A):c.1138G>T (p.Glu380Ter)	KAT6A (E380*)	Single nucleotide variant (nonsense)	KAT6A-related disorder	GLikely pathogenic
Select item 3349274	NM_006766.5(KAT6A):c.3737G>A (p.Ser1246Asn)	KAT6A (S1246N)	Single nucleotide variant (missense variant)	KAT6A-related disorder	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 3348534	NM_006766.5(KAT6A):c.1816dup (p.Leu606fs)	KAT6A (L606fs)	Duplication (frameshift variant)	KAT6A-related disorder	GLikely pathogenic
Select item 3348417	NM_006766.5(KAT6A):c.4309A>G (p.Ser1437Gly)	KAT6A (S1437G)	Single nucleotide variant (missense variant)	KAT6A-related disorder	GUncertain significance
Select item 3344321	NM_006766.5(KAT6A):c.2534G>C (p.Arg845Pro)	KAT6A (R845P)	Single nucleotide variant (missense variant)	KAT6A-related disorder	GUncertain significance
Select item 3343769	NM_006766.5(KAT6A):c.2654A>T (p.Lys885Ile)	KAT6A (K885I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343522	NM_006766.5(KAT6A):c.2567T>C (p.Leu856Pro)	KAT6A (L856P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343427	NM_006766.5(KAT6A):c.293A>C (p.Asp98Ala)	KAT6A (D98A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3343347	NM_006766.5(KAT6A):c.3937G>T (p.Asp1313Tyr)	KAT6A (D1313Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343150	NM_006766.5(KAT6A):c.3422A>G (p.Asp1141Gly)	KAT6A (D1141G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342422	NM_006766.5(KAT6A):c.4993CAACCA[3] (p.Pro1668_Ala1669insGlnPro)	KAT6A	Microsatellite (inframe_insertion)	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 3342199	NM_006766.5(KAT6A):c.3057A>T (p.Arg1019=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3340549	NM_006766.5(KAT6A):c.1271G>T (p.Arg424Leu)	KAT6A (R424L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338566	NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)	KAT6A (E1300fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3337192	NM_006766.5(KAT6A):c.5386C>G (p.Pro1796Ala)	KAT6A (P1796A)	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 3336895	NM_006766.5(KAT6A):c.5111A>G (p.Gln1704Arg)	KAT6A (Q1704R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336103	NM_006766.5(KAT6A):c.1372G>A (p.Asp458Asn)	KAT6A (D458N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287386	NM_006766.5(KAT6A):c.2417A>G (p.Glu806Gly)	KAT6A (E806G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287385	NM_006766.5(KAT6A):c.2896A>C (p.Ser966Arg)	KAT6A (S966R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287384	NM_006766.5(KAT6A):c.3644A>G (p.Glu1215Gly)	KAT6A (E1215G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287383	NM_006766.5(KAT6A):c.1522T>C (p.Cys508Arg)	KAT6A (C508R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287382	NM_006766.5(KAT6A):c.4996C>T (p.Pro1666Ser)	KAT6A (P1666S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3287380	NM_006766.5(KAT6A):c.4352C>G (p.Ala1451Gly)	KAT6A (A1451G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255010	NM_006766.5(KAT6A):c.265G>A (p.Gly89Arg)	KAT6A (G89R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3255009	NM_006766.5(KAT6A):c.152T>C (p.Leu51Ser)	KAT6A (L51S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3255008	NM_006766.5(KAT6A):c.50T>C (p.Ile17Thr)	KAT6A (I17T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3254794	NM_006766.5(KAT6A):c.441dup (p.Arg148fs)	KAT6A (R148fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3253415	NM_006766.5(KAT6A):c.283_286del (p.Gln95fs)	KAT6A (Q95fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3245575	NC_000008.10:g.(?_41518984)_(41845101_?)dup	ANK1, KAT6A	Duplication	not provided	GUncertain significance
Select item 3245546	NC_000008.10:g.(?_41518984)_(42329908_?)dup	ANK1, AP3M2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3242110	NM_006766.5(KAT6A):c.379G>C (p.Gly127Arg)	KAT6A (G127R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3241983	NM_006766.5(KAT6A):c.710-3T>C	KAT6A	Single nucleotide variant (intron variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
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 3237187	NM_006766.5(KAT6A):c.3887dup (p.Glu1297fs)	KAT6A (E1297fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3112764	NM_006766.5(KAT6A):c.578T>C (p.Leu193Pro)	KAT6A (L193P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112763	NM_006766.5(KAT6A):c.5353del (p.Ser1785fs)	KAT6A (S1785fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3112760	NM_006766.5(KAT6A):c.4430C>T (p.Ser1477Leu)	KAT6A (S1477L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112759	NM_006766.5(KAT6A):c.3788C>T (p.Thr1263Ile)	KAT6A (T1263I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112757	NM_006766.5(KAT6A):c.3578T>A (p.Val1193Asp)	KAT6A (V1193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112754	NM_006766.5(KAT6A):c.3256C>A (p.Arg1086Ser)	KAT6A (R1086S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112753	NM_006766.5(KAT6A):c.3153T>G (p.Asp1051Glu)	KAT6A (D1051E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112751	NM_006766.5(KAT6A):c.2570C>T (p.Pro857Leu)	KAT6A (P857L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112750	NM_006766.5(KAT6A):c.2475T>G (p.Asp825Glu)	KAT6A (D825E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112749	NM_006766.5(KAT6A):c.2414A>G (p.Gln805Arg)	KAT6A (Q805R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112748	NM_006766.5(KAT6A):c.2302G>C (p.Asp768His)	KAT6A (D768H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068666	NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)	KAT6A (Q912*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3067483	NM_006766.5(KAT6A):c.2283G>C (p.Gln761His)	KAT6A (Q761H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063853	NM_006766.5(KAT6A):c.2968_2969delinsAT (p.Glu990Met)	KAT6A (E990M)	Indel (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3062142	NM_006766.5(KAT6A):c.2525del (p.Ser842fs)	KAT6A (S842fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	Gnot provided
Select item 3062135	NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)	KAT6A (E1275fs)	Microsatellite (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3062049	NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)	KAT6A (Q1660fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3038864	NM_006766.5(KAT6A):c.2943C>T (p.Leu981=)	KAT6A	Single nucleotide variant (synonymous variant)	KAT6A-related disorder	GLikely benign
Select item 3031799	NM_006766.5(KAT6A):c.4753A>G (p.Ser1585Gly)	KAT6A (S1585G)	Single nucleotide variant (missense variant)	KAT6A-related disorder	GUncertain significance
Select item 3031323	NM_006766.5(KAT6A):c.1172A>C (p.Asp391Ala)	KAT6A (D391A)	Single nucleotide variant (missense variant)	KAT6A-related disorder	GUncertain significance
Select item 3027211	NM_006766.5(KAT6A):c.1570T>C (p.Ser524Pro)	KAT6A (S524P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026474	NM_006766.5(KAT6A):c.3638C>T (p.Pro1213Leu)	KAT6A (P1213L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024293	NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)	KAT6A (Q494R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3023998	NM_006766.5(KAT6A):c.4221C>T (p.Ile1407=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3023966	NM_006766.5(KAT6A):c.907+13T>A	KAT6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020401	NM_006766.5(KAT6A):c.3353-3T>C	KAT6A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3018918	NM_006766.5(KAT6A):c.3813G>A (p.Glu1271=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3018291	NM_006766.5(KAT6A):c.3699_3719del (p.Ala1236_Glu1242del)	KAT6A	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3017621	NM_006766.5(KAT6A):c.2562T>C (p.Asp854=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3017222	NM_006766.5(KAT6A):c.826-8T>C	KAT6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016686	NM_006766.5(KAT6A):c.4502A>G (p.Asn1501Ser)	KAT6A (N1501S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3016080	NM_006766.5(KAT6A):c.966G>A (p.Lys322=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015001	NM_006766.5(KAT6A):c.5637A>G (p.Pro1879=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012090	NM_006766.5(KAT6A):c.2729A>G (p.Gln910Arg)	KAT6A (Q910R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010345	NM_006766.5(KAT6A):c.4507C>T (p.Pro1503Ser)	KAT6A (P1503S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3009788	NM_006766.5(KAT6A):c.5139A>G (p.Pro1713=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009276	NM_006766.5(KAT6A):c.3900G>C (p.Glu1300Asp)	KAT6A (E1300D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009270	NM_006766.5(KAT6A):c.3430A>G (p.Thr1144Ala)	KAT6A (T1144A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3008185	NM_006766.5(KAT6A):c.2913_2915del (p.Arg972del)	KAT6A (R972del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3007913	NM_006766.5(KAT6A):c.3159C>G (p.Asp1053Glu)	KAT6A (D1053E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007142	NM_006766.5(KAT6A):c.811C>G (p.Gln271Glu)	KAT6A (Q271E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3006926	NM_006766.5(KAT6A):c.1467A>G (p.Gln489=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006654	NM_006766.5(KAT6A):c.3287G>A (p.Cys1096Tyr)	KAT6A (C1096Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3005906	NM_006766.5(KAT6A):c.5458A>G (p.Thr1820Ala)	KAT6A (T1820A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3005646	NM_006766.5(KAT6A):c.507C>T (p.Leu169=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005233	NM_006766.5(KAT6A):c.4108G>C (p.Glu1370Gln)	KAT6A (E1370Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005043	NM_006766.5(KAT6A):c.4094A>G (p.Asp1365Gly)	KAT6A (D1365G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004471	NM_006766.5(KAT6A):c.3872A>G (p.Gln1291Arg)	KAT6A (Q1291R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003953	NM_006766.5(KAT6A):c.5067G>C (p.Gln1689His)	KAT6A (Q1689H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003848	NM_006766.5(KAT6A):c.1501C>G (p.Pro501Ala)	KAT6A (P501A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003651	NM_006766.5(KAT6A):c.3861G>A (p.Glu1287=)	KAT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3002967	NM_006766.5(KAT6A):c.2656C>G (p.Leu886Val)	KAT6A (L886V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002175	NM_006766.5(KAT6A):c.1355G>T (p.Trp452Leu)	KAT6A (W452L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3001584	NM_006766.5(KAT6A):c.130C>T (p.Arg44Cys)	KAT6A (R44C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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