"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KAT6B"[gene] - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1204057	NM_012330.4(KAT6B):c.147A>G (p.Glu49=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +2 more	GLikely benign
Select item 1131768	NM_012330.4(KAT6B):c.282G>A (p.Gly94=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 300856	NM_012330.4(KAT6B):c.375C>T (p.Ser125=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1660041	NM_012330.4(KAT6B):c.510G>A (p.Pro170=)	KAT6B	Single nucleotide variant (5 prime UTR variant +1 more)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 707312	NM_012330.4(KAT6B):c.519G>A (p.Arg173=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GLikely benign
Select item 1696303	NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)	KAT6B (P196A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 763362	NM_012330.4(KAT6B):c.622-7G>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1416326	NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys)	KAT6B (R227C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1257194	NM_012330.4(KAT6B):c.699A>G (p.Glu233=)	KAT6B (N54S)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1513987	NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp)	KAT6B (G279D)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 260251	NM_012330.4(KAT6B):c.846+16G>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 300858	NM_012330.4(KAT6B):c.929-12A>G	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +3 more	GBenign
Select item 1499819	NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg)	KAT6B (S397R)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 1321577	NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del)	KAT6B	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 444225	NM_012330.4(KAT6B):c.1282A>C (p.Asn428His)	KAT6B (N428H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 300862	NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val)	KAT6B (A480V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 1666400	NM_012330.4(KAT6B):c.1539C>T (p.Ala513=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1399774	NM_012330.4(KAT6B):c.1662G>A (p.Gln554=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 1491338	NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu)	KAT6B (Q556L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 561722	NM_012330.4(KAT6B):c.1685A>G (p.His562Arg)	KAT6B (H562R)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GUncertain significance
Select item 806517	NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys)	KAT6B (R572C)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1431199	NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys)	KAT6B (R573C)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 513307	NM_012330.4(KAT6B):c.1782A>G (p.Arg594=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +2 more	GLikely benign
Select item 1394956	NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln)	KAT6B (R622Q)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1210977	NM_012330.4(KAT6B):c.1994-20C>T	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 430339	NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg)	KAT6B (Q700R +3 more)	Single nucleotide variant (missense variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GConflicting classifications of pathogenicity
Select item 1671232	NM_012330.4(KAT6B):c.2115+13T>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1361928	NM_012330.4(KAT6B):c.2272A>G (p.Met758Val)	KAT6B (M403V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1439711	NM_012330.4(KAT6B):c.2373+6C>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 300871	NM_012330.4(KAT6B):c.2374-10T>C	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 1634789	NM_012330.4(KAT6B):c.2790G>T (p.Ala930=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1017130	NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln)	KAT6B (R179Q +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1160721	NM_012330.4(KAT6B):c.2991G>A (p.Val997=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1198527	NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp)	KAT6B (R1010W +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1629826	NM_012330.4(KAT6B):c.3117A>G (p.Val1039=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1157791	NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu)	KAT6B (S1041L +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1448596	NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del)	KAT6B (E295del +7 more)	Microsatellite (inframe_deletion)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 1609756	NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=)	KAT6B	Single nucleotide variant (synonymous variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GLikely benign
Select item 1388063	NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup)	KAT6B	Microsatellite (inframe_insertion)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 844277	NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del)	KAT6B	Microsatellite (inframe_deletion)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 1181649	NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 372614	NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)	KAT6B (T1114M +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1356877	NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His)	KAT6B (R356H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1572559	NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 260240	NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +3 more	GLikely benign
Select item 1388907	NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys)	KAT6B (E1240K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1276110	NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn)	KAT6B (K1243N +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1584301	NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 642582	NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu)	KAT6B (Q1138L +7 more)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GConflicting classifications of pathogenicity
Select item 977345	NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser)	KAT6B (P1040S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 859762	NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg)	KAT6B (K1166R +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 260241	NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)	KAT6B	Microsatellite (inframe_deletion)	Genitopatellar syndrome +3 more	GBenign/Likely benign
Select item 1629999	NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 300888	NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 1195636	NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His)	KAT6B (R1049H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1349496	NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del)	KAT6B (E1068del +7 more)	Microsatellite (inframe_deletion)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 1168725	NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile)	KAT6B (L1107I +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 300890	NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +3 more	GBenign/Likely benign
Select item 1301439	NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1208800	NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val)	KAT6B (A1138V +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1447448	NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln)	KAT6B (P1153Q +7 more)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GConflicting classifications of pathogenicity
Select item 1433549	NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn)	KAT6B (D1178N +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GUncertain significance
Select item 300891	NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 1201628	NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 439844	NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile)	KAT6B (V1603I +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GUncertain significance
Select item 300892	NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)	KAT6B (R1612C +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1553369	NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 561748	NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr)	KAT6B (A1627T +7 more)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GUncertain significance
Select item 514641	NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 260247	NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=)	KAT6B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1348317	NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr)	KAT6B (A1095T +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 1143599	NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 618182	NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr)	KAT6B (H1830Y +7 more)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GUncertain significance
Select item 561895	NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GLikely benign
Select item 1238434	NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 432532	NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp)	KAT6B (G2005D +7 more)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more	GConflicting classifications of pathogenicity
Select item 1278561	NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 1278386	NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 260250	NM_012330.4(KAT6B):c.6162C>T (p.His2054=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +3 more	GBenign/Likely benign
Select item 1478628	NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln)	KAT6B (K1368Q +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 80