"PreventionGenetics, part of Exact Sciences"[submitter] AND "KAT6B"[ge - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631645	NM_012330.4(KAT6B):c.368G>T (p.Gly123Val)	KAT6B (G123V)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 300856	NM_012330.4(KAT6B):c.375C>T (p.Ser125=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type +3 more	GBenign/Likely benign
Select item 3042493	NM_012330.4(KAT6B):c.392A>G (p.Lys131Arg)	KAT6B (K131R)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 2631599	NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)	KAT6B	Duplication (inframe_insertion +1 more)	KAT6B-related disorder +1 more	GUncertain significance
Select item 2197313	NM_012330.4(KAT6B):c.582G>A (p.Ser194=)	KAT6B (R15H)	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 2630680	NM_012330.4(KAT6B):c.846+1G>C	KAT6B	Single nucleotide variant (splice donor variant +1 more)	KAT6B-related disorder	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 260252	NM_012330.4(KAT6B):c.858T>C (p.Leu286=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 260232	NM_012330.4(KAT6B):c.1062-16C>G	KAT6B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2632658	NM_012330.4(KAT6B):c.1204A>G (p.Thr402Ala)	KAT6B (T402A)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 1261269	NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser)	KAT6B (P490S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2039878	NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GBenign/Likely benign
Select item 300864	NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)	KAT6B (S504R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1653016	NM_012330.4(KAT6B):c.1565C>A (p.Ser522Tyr)	KAT6B (S522Y)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder +1 more	GLikely benign
Select item 2183014	NM_012330.4(KAT6B):c.1584G>A (p.Val528=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 2632872	NM_012330.4(KAT6B):c.1637G>A (p.Gly546Glu)	KAT6B (G546E)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 1300579	NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala)	KAT6B (T552A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 260233	NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr)	KAT6B (H600Y)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 591060	NM_012330.4(KAT6B):c.1800CTC[3] (p.Ser605del)	KAT6B (S605del)	Microsatellite (inframe_deletion +1 more)	KAT6B-related disorder	GUncertain significance
Select item 2633160	NM_012330.4(KAT6B):c.1815C>G (p.Ser605Arg)	KAT6B (S605R)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 260234	NM_012330.4(KAT6B):c.1887C>T (p.His629=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +1 more	GLikely benign
Select item 3032149	NM_012330.4(KAT6B):c.2065A>G (p.Thr689Ala)	KAT6B (T334A +3 more)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 1166107	NM_012330.4(KAT6B):c.2231+9A>G	KAT6B	Single nucleotide variant (intron variant)	KAT6B-related disorder +2 more	GBenign/Likely benign
Select item 260235	NM_012330.4(KAT6B):c.2448G>A (p.Thr816=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome +2 more	GLikely benign
Select item 2059261	NM_012330.4(KAT6B):c.2490A>G (p.Thr830=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	KAT6B-related disorder +1 more	GLikely benign
Select item 2629475	NM_012330.4(KAT6B):c.2557T>C (p.Tyr853His)	KAT6B (Y158H +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder	GUncertain significance
Select item 2632935	NM_012330.4(KAT6B):c.2657A>G (p.Gln886Arg)	KAT6B (Q105R +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder	GUncertain significance
Select item 2631648	NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys)	KAT6B (R173K +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder +1 more	GUncertain significance
Select item 523902	NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)	KAT6B (R1058* +7 more)	Single nucleotide variant (nonsense)	Genitopatellar syndrome +3 more	GPathogenic
Select item 260236	NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del)	KAT6B	Deletion (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 260237	NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)	KAT6B	Microsatellite (inframe_deletion)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 1147183	NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 859763	NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp)	KAT6B (E731D +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder +2 more	GLikely benign
Select item 1096943	NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=)	KAT6B	Single nucleotide variant (synonymous variant)	KAT6B-related disorder +2 more	GBenign/Likely benign
Select item 3051984	NM_012330.4(KAT6B):c.3276GGA[1] (p.Glu1104del)	KAT6B (E1104del +7 more)	Microsatellite (inframe deletion)	KAT6B-related disorder	GLikely benign
Select item 260238	NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)	KAT6B	Microsatellite (inframe_insertion)	not specified +2 more	GBenign/Likely benign
Select item 211214	NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)	KAT6B (E1104del +7 more)	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)	Genitopatellar syndrome +3 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 +4 more	GConflicting classifications of pathogenicity
Select item 260239	NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser)	KAT6B (A1217S +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2719650	NM_012330.4(KAT6B):c.3665-20G>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 3038165	NM_012330.4(KAT6B):c.3665-14G>A	KAT6B	Single nucleotide variant (intron variant)	KAT6B-related disorder	GLikely benign
Select item 300882	NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely 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 1266817	NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe)	KAT6B (L1027F +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder +2 more	GBenign/Likely benign
Select item 561618	NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del)	KAT6B (E1368del +7 more)	Microsatellite (inframe_deletion)	Genitopatellar syndrome +4 more	GConflicting classifications of pathogenicity
Select item 260241	NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)	KAT6B	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 3033869	NM_012330.4(KAT6B):c.4066del (p.Glu1356fs)	KAT6B (E1001fs +7 more)	Deletion (frameshift variant)	KAT6B-related disorder	GPathogenic
Select item 260244	NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)	KAT6B	Microsatellite (inframe_insertion)	KAT6B-related disorder +3 more	GBenign/Likely benign
Select item 260243	NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)	KAT6B	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 260242	NM_012330.4(KAT6B):c.4092_4094del (p.Glu1368del)	KAT6B (E1368del +7 more)	Deletion (inframe_deletion)	not specified	GLikely benign
Select item 503809	NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup)	KAT6B	Microsatellite (inframe_insertion)	KAT6B-related disorder +2 more	GBenign/Likely benign
Select item 1274736	NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His)	KAT6B (D1026H +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder +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 +4 more	GConflicting classifications of pathogenicity
Select item 260245	NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=)	KAT6B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2061816	NM_012330.4(KAT6B):c.4437C>T (p.Val1479=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 260246	NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile)	KAT6B (V1499I +7 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1508713	NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys)	KAT6B (E1149K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 623743	NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile)	KAT6B (V1545I +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 2719775	NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 2629545	NM_012330.4(KAT6B):c.4738C>G (p.Gln1580Glu)	KAT6B (Q1017E +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder	GUncertain significance
Select item 1212754	NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=)	KAT6B	Single nucleotide variant (synonymous variant)	KAT6B-related disorder +2 more	GLikely benign
Select item 300893	NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His)	KAT6B (R1612H +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +2 more	GBenign/Likely benign
Select item 2044116	NM_012330.4(KAT6B):c.4956C>T (p.Val1652=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 514641	NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +3 more	GLikely benign
Select item 3054468	NM_012330.4(KAT6B):c.5169G>A (p.Gln1723=)	KAT6B	Single nucleotide variant (synonymous variant)	KAT6B-related disorder	GLikely benign
Select item 260247	NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +3 more	GBenign/Likely benign
Select item 561895	NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 260248	NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val)	KAT6B (I1917V +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 260249	NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=)	KAT6B	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1630178	NM_012330.4(KAT6B):c.6054A>G (p.Gln2018=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome +1 more	GLikely benign
Select item 1278386	NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=)	KAT6B	Single nucleotide variant (synonymous variant)	KAT6B-related disorder +3 more	GBenign/Likely benign
Select item 260250	NM_012330.4(KAT6B):c.6162C>T (p.His2054=)	KAT6B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

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Items: 73