"GeneDx"[submitter] AND "KAT2B"[gene] - ClinVar

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Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1226690	NM_003884.5(KAT2B):c.303+82T>G	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 1227382	NM_003884.5(KAT2B):c.851+60G>C	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 1222496	NM_003884.5(KAT2B):c.2004+48C>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275446	NM_003884.5(KAT2B):c.2119+86C>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279159	NM_003884.5(KAT2B):c.2119+152C>T	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791913	NM_003884.5(KAT2B):c.2120-6G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233240	NM_003884.5(KAT2B):c.2156+87G>A	KAT2B	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 46