KAT2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 57700	GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3	BALR6, EFHB +39 more	Copy number gain	See cases	GUncertain significance
Select item 147343	GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1	EFHB, KAT2B +53 more	Copy number loss	See cases	GUncertain significance
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 1289942	NC_000003.12:g.20039856C>T	KAT2B	Single nucleotide variant	not provided	GBenign
Select item 1256717	NC_000003.12:g.20039998A>G	KAT2B	Single nucleotide variant	not provided	GBenign
Select item 1268718	NC_000003.12:g.20040068C>T	KAT2B	Single nucleotide variant	not provided	GBenign
Select item 1240888	NC_000003.12:g.20040202CAGCGG[3]	KAT2B	Microsatellite	not provided	GBenign
Select item 1175408	NC_000003.12:g.20040309C>A	KAT2B	Single nucleotide variant	not provided	GBenign
Select item 1230594	NC_000003.12:g.20040433G>A	KAT2B	Single nucleotide variant	not provided	GBenign
Select item 3112733	NM_003884.5(KAT2B):c.14G>C (p.Gly5Ala)	KAT2B (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044350	NM_003884.5(KAT2B):c.39_158del (p.Ala14_Gly53del)	KAT2B	Deletion (inframe deletion)	KAT2B-related disorder	GLikely benign
Select item 2559250	NM_003884.5(KAT2B):c.59C>T (p.Ala20Val)	KAT2B (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112737	NM_003884.5(KAT2B):c.61G>C (p.Gly21Arg)	KAT2B (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381816	NM_003884.5(KAT2B):c.65C>T (p.Pro22Leu)	KAT2B (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347855	NM_003884.5(KAT2B):c.80C>G (p.Pro27Arg)	KAT2B (P27R)	Single nucleotide variant (missense variant)	KAT2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2378894	NM_003884.5(KAT2B):c.104C>T (p.Ala35Val)	KAT2B (A35V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2537451	NM_003884.5(KAT2B):c.113A>T (p.Gln38Leu)	KAT2B (Q38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030689	NM_003884.5(KAT2B):c.139G>C (p.Gly47Arg)	KAT2B (G47R)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GUncertain significance
Select item 2324225	NM_003884.5(KAT2B):c.139G>A (p.Gly47Arg)	KAT2B (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035151	NM_003884.5(KAT2B):c.185G>A (p.Gly62Asp)	KAT2B (G62D)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GLikely benign
Select item 3112734	NM_003884.5(KAT2B):c.211G>A (p.Gly71Ser)	KAT2B (G71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592150	NM_003884.5(KAT2B):c.218C>T (p.Ala73Val)	KAT2B (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226690	NM_003884.5(KAT2B):c.303+82T>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57768	GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)x1	KAT2B, LOC101927829 +77 more	Copy number loss	See cases	GPathogenic
Select item 1287829	NM_003884.5(KAT2B):c.304-205G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258558	NM_003884.5(KAT2B):c.309G>A (p.Glu103=)	KAT2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053952	NM_003884.5(KAT2B):c.327T>C (p.Asn109=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 2590339	NM_003884.5(KAT2B):c.362C>G (p.Pro121Arg)	KAT2B (P121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042621	NM_003884.5(KAT2B):c.363C>A (p.Pro121=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 2615872	NM_003884.5(KAT2B):c.370G>C (p.Asp124His)	KAT2B (D124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259575	NM_003884.5(KAT2B):c.430+38C>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249237	NM_003884.5(KAT2B):c.430+93T>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287375	NM_003884.5(KAT2B):c.430+97G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273861	NM_003884.5(KAT2B):c.431-144C>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260901	NM_003884.5(KAT2B):c.431-110A>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256992	NM_003884.5(KAT2B):c.431-72T>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030965	NM_003884.5(KAT2B):c.432T>C (p.Ala144=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 3112736	NM_003884.5(KAT2B):c.556G>A (p.Val186Ile)	KAT2B (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 796321	NM_003884.5(KAT2B):c.567T>C (p.Tyr189=)	KAT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1248240	NM_003884.5(KAT2B):c.576+59A>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281937	NM_003884.5(KAT2B):c.577-89G>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258535	NM_003884.5(KAT2B):c.577-53T>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222150	NM_003884.5(KAT2B):c.577-53T>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279967	NM_003884.5(KAT2B):c.577-46A>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275737	NM_003884.5(KAT2B):c.579C>T (p.Leu193=)	KAT2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 993518	NM_003884.5(KAT2B):c.592A>G (p.Ile198Val)	KAT2B (I198V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1288666	NM_003884.5(KAT2B):c.669+76A>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222333	NM_003884.5(KAT2B):c.670-173G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232180	NM_003884.5(KAT2B):c.670-113T>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288537	NM_003884.5(KAT2B):c.670-70G>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2343555	NM_003884.5(KAT2B):c.727A>G (p.Thr243Ala)	KAT2B (T243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558137	NM_003884.5(KAT2B):c.736G>A (p.Glu246Lys)	KAT2B (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220753	NM_003884.5(KAT2B):c.761G>A (p.Arg254His)	KAT2B (R254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394823	NM_003884.5(KAT2B):c.763A>C (p.Ile255Leu)	KAT2B (I255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220154	NM_003884.5(KAT2B):c.797G>A (p.Arg266Gln)	KAT2B (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112738	NM_003884.5(KAT2B):c.814A>G (p.Asn272Asp)	KAT2B (N272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558138	NM_003884.5(KAT2B):c.820G>T (p.Asp274Tyr)	KAT2B (D274Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227382	NM_003884.5(KAT2B):c.851+60G>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3046932	NM_003884.5(KAT2B):c.852-5C>T	KAT2B	Single nucleotide variant (intron variant)	KAT2B-related disorder	GLikely benign
Select item 716844	NM_003884.5(KAT2B):c.870C>T (p.Asn290=)	KAT2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3112739	NM_003884.5(KAT2B):c.904G>A (p.Glu302Lys)	KAT2B (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112740	NM_003884.5(KAT2B):c.962G>A (p.Arg321Gln)	KAT2B (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259696	NM_003884.5(KAT2B):c.1043+115G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237005	NM_003884.5(KAT2B):c.1044-217A>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235493	NM_003884.5(KAT2B):c.1044-189A>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286231	NM_003884.5(KAT2B):c.1044-72T>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2401768	NM_003884.5(KAT2B):c.1096G>C (p.Asp366His)	KAT2B (D366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271412	NM_003884.5(KAT2B):c.1151-47G>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229746	NM_003884.5(KAT2B):c.1157A>G (p.Asn386Ser)	KAT2B (N386S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2473886	NM_003884.5(KAT2B):c.1273C>T (p.Pro425Ser)	KAT2B (P425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221910	NM_003884.5(KAT2B):c.1303C>T (p.His435Tyr)	KAT2B (H435Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307567	NM_003884.5(KAT2B):c.1323G>T (p.Lys441Asn)	KAT2B (K441N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112731	NM_003884.5(KAT2B):c.1333G>C (p.Val445Leu)	KAT2B (V445L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393179	NM_003884.5(KAT2B):c.1349C>T (p.Pro450Leu)	KAT2B (P450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031453	NM_003884.5(KAT2B):c.1397C>T (p.Ala466Val)	KAT2B (A466V)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GUncertain significance
Select item 1236810	NM_003884.5(KAT2B):c.1413+40T>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271314	NM_003884.5(KAT2B):c.1413+185G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273562	NM_003884.5(KAT2B):c.1414-132G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055632	NM_003884.5(KAT2B):c.1431A>C (p.Ala477=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 2204139	NM_003884.5(KAT2B):c.1522A>G (p.Asn508Asp)	KAT2B (N508D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268673	NM_003884.5(KAT2B):c.1623-127A>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223357	NM_003884.5(KAT2B):c.1623-40C>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 545587	NM_003884.5(KAT2B):c.1754del (p.Tyr585fs)	KAT2B (Y585fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3045525	NM_003884.5(KAT2B):c.1797G>A (p.Lys599=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 1276053	NM_003884.5(KAT2B):c.1861-229A>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255348	NM_003884.5(KAT2B):c.1861-98G>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232962	NM_003884.5(KAT2B):c.1861-37T>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037788	NM_003884.5(KAT2B):c.1957C>T (p.Arg653Trp)	KAT2B (R653W)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GBenign
Select item 1222496	NM_003884.5(KAT2B):c.2004+48C>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2208171	NM_003884.5(KAT2B):c.2018T>G (p.Leu673Arg)	KAT2B (L673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313460	NM_003884.5(KAT2B):c.2060G>C (p.Gly687Ala)	KAT2B (G687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561020	NM_003884.5(KAT2B):c.2065T>A (p.Ser689Thr)	KAT2B (S689T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058809	NM_003884.5(KAT2B):c.2082A>C (p.Gly694=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign

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