ClinVar for Gene (Select 23522) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374880	NM_012330.4(KAT6B):c.6024C>A (p.Ser2008Arg)	KAT6B (S1227R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372164	NM_012330.4(KAT6B):c.449A>G (p.Gln150Arg)	KAT6B (Q150R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371454	NM_012330.4(KAT6B):c.4849C>G (p.Pro1617Ala)	KAT6B (P1054A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371268	NM_012330.4(KAT6B):c.3745C>G (p.Pro1249Ala)	KAT6B (P1066A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367721	NM_012330.4(KAT6B):c.2772C>G (p.Ile924Met)	KAT6B (I143M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366259	NM_012330.4(KAT6B):c.5417G>A (p.Gly1806Glu)	KAT6B (G1025E +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364412	NM_012330.4(KAT6B):c.2592C>A (p.His864Gln)	KAT6B (H169Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362130	NM_012330.4(KAT6B):c.2668C>T (p.Pro890Ser)	KAT6B (P109S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359881	NM_012330.4(KAT6B):c.1874T>C (p.Phe625Ser)	KAT6B (F625S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3348021	NM_012330.4(KAT6B):c.2666C>A (p.Ser889Tyr)	KAT6B (S108Y +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder	GUncertain significance
Select item 3347786	NM_012330.4(KAT6B):c.5848_5849del (p.Val1950fs)	KAT6B (V1169fs +7 more)	Deletion (frameshift variant)	KAT6B-related disorder	GLikely pathogenic
Select item 3346873	NM_012330.4(KAT6B):c.136A>G (p.Thr46Ala)	KAT6B (T46A)	Single nucleotide variant (missense variant +1 more)	KAT6B-related disorder	GUncertain significance
Select item 3345672	NM_012330.4(KAT6B):c.3061G>A (p.Glu1021Lys)	KAT6B (E1021K +7 more)	Single nucleotide variant (missense variant)	KAT6B-related disorder	GUncertain significance
Select item 3345340	NM_012330.4(KAT6B):c.2958del (p.Arg986fs)	KAT6B (R205fs +7 more)	Deletion (frameshift variant)	KAT6B-related disorder	GLikely pathogenic
Select item 3345206	NM_012330.4(KAT6B):c.5646dup (p.Asn1883fs)	KAT6B (N1102fs +7 more)	Duplication (frameshift variant)	KAT6B-related disorder	GLikely pathogenic
Select item 3345128	NM_012330.4(KAT6B):c.4075del (p.Glu1359fs)	KAT6B (E1004fs +7 more)	Deletion (frameshift variant)	KAT6B-related disorder	GLikely pathogenic
Select item 3342294	NM_012330.4(KAT6B):c.1040dup (p.Asn347fs)	KAT6B (N347fs)	Duplication (frameshift variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GLikely pathogenic
Select item 3341065	NM_012330.4(KAT6B):c.3759G>T (p.Lys1253Asn)	KAT6B (K1070N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340991	NM_012330.4(KAT6B):c.1006C>T (p.Arg336Ter)	KAT6B (R336*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3338925	NM_012330.4(KAT6B):c.5027C>T (p.Thr1676Ile)	KAT6B (T1113I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338923	NM_012330.4(KAT6B):c.5204T>C (p.Leu1735Pro)	KAT6B (L1040P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336376	NM_012330.4(KAT6B):c.384C>T (p.Asn128=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3287397	NM_012330.4(KAT6B):c.3949G>A (p.Ala1317Thr)	KAT6B (A1134T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287396	NM_012330.4(KAT6B):c.129T>G (p.Asp43Glu)	KAT6B (D43E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3287395	NM_012330.4(KAT6B):c.3521C>G (p.Pro1174Arg)	KAT6B (P479R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287394	NM_012330.4(KAT6B):c.1960A>G (p.Thr654Ala)	KAT6B (T654A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3287393	NM_012330.4(KAT6B):c.1942C>A (p.Pro648Thr)	KAT6B (P648T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287392	NM_012330.4(KAT6B):c.1517G>C (p.Ser506Thr)	KAT6B (S506T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287391	NM_012330.4(KAT6B):c.1505G>A (p.Gly502Asp)	KAT6B (G502D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287390	NM_012330.4(KAT6B):c.1484C>T (p.Pro495Leu)	KAT6B (P495L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287389	NM_012330.4(KAT6B):c.1430A>T (p.His477Leu)	KAT6B (H477L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287388	NM_012330.4(KAT6B):c.1175G>T (p.Gly392Val)	KAT6B (G392V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287387	NM_012330.4(KAT6B):c.1198G>C (p.Ala400Pro)	KAT6B (A400P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257484	NM_012330.4(KAT6B):c.626G>T (p.Arg209Leu)	KAT6B (R209L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255006	NM_012330.4(KAT6B):c.1675A>T (p.Lys559Ter)	KAT6B (K559*)	Single nucleotide variant (nonsense +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GUncertain significance
Select item 3254795	NM_012330.4(KAT6B):c.5762del (p.Gly1921fs)	KAT6B (G1140fs +7 more)	Deletion (frameshift variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GPathogenic
Select item 3253383	NM_012330.4(KAT6B):c.4630G>A (p.Ala1544Thr)	KAT6B (A1189T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252762	NM_012330.4(KAT6B):c.155A>C (p.Glu52Ala)	KAT6B (E52A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252548	NM_012330.4(KAT6B):c.6187A>G (p.Lys2063Glu)	KAT6B (K1282E +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251340	NM_012330.4(KAT6B):c.5943T>C (p.Ser1981=)	KAT6B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3250994	NM_012330.4(KAT6B):c.2265T>G (p.Leu755=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3244846	NC_000010.10:g.(?_76737054)_(76790804_?)dup	KAT6B	Duplication	Genitopatellar syndrome	GLikely benign
Select item 3242223	NM_012330.4(KAT6B):c.3822C>G (p.Tyr1274Ter)	KAT6B (Y1091* +7 more)	Single nucleotide variant (nonsense)	Genitopatellar syndrome	GPathogenic
Select item 3236131	NM_012330.4(KAT6B):c.4237G>T (p.Glu1413Ter)	KAT6B (E1058* +7 more)	Single nucleotide variant (nonsense)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GPathogenic
Select item 3235836	NM_012330.4(KAT6B):c.622-45408G>T	KAT6B, LOC101929165	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3235224	NM_012330.4(KAT6B):c.2154del (p.Tyr719fs)	KAT6B (Y364fs +4 more)	Deletion (frameshift variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GUncertain significance
Select item 3234641	NM_012330.4(KAT6B):c.2023G>T (p.Glu675Ter)	KAT6B (E320* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3112774	NM_012330.4(KAT6B):c.6058C>T (p.Pro2020Ser)	KAT6B (P1457S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112773	NM_012330.4(KAT6B):c.5293C>A (p.Gln1765Lys)	KAT6B (Q1419K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112772	NM_012330.4(KAT6B):c.5165C>G (p.Thr1722Ser)	KAT6B (T1027S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112771	NM_012330.4(KAT6B):c.4765G>A (p.Asp1589Asn)	KAT6B (D1297N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112769	NM_012330.4(KAT6B):c.4037A>G (p.Asp1346Gly)	KAT6B (D1054G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112766	NM_012330.4(KAT6B):c.1699C>G (p.Pro567Ala)	KAT6B (P567A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112765	NM_012330.4(KAT6B):c.1523A>G (p.Gln508Arg)	KAT6B (Q508R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3065917	NM_012330.4(KAT6B):c.4262A>G (p.Asn1421Ser)	KAT6B (N1066S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 3063159	GRCh37/hg19 10q22.2(chr10:76780949-77088796)x3	COMTD1, DUSP13B +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063152	GRCh37/hg19 10q22.2(chr10:76733580-77200441)x3	COMTD1, DUSP13B +5 more	Copy number gain	not specified	GUncertain significance
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 3051984	NM_012330.4(KAT6B):c.3276GGA[1] (p.Glu1104del)	KAT6B (E1104del +7 more)	Microsatellite	KAT6B-related disorder	GLikely 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 3038165	NM_012330.4(KAT6B):c.3665-14G>A	KAT6B	Single nucleotide variant (intron variant)	KAT6B-related disorder	GLikely 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 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 3024357	NM_012330.4(KAT6B):c.3373-1G>A	KAT6B	Single nucleotide variant (splice acceptor variant)	Genitopatellar syndrome	GLikely pathogenic
Select item 3023563	NM_012330.4(KAT6B):c.2506G>A (p.Gly836Ser)	KAT6B (G836S +3 more)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 3023061	NM_012330.4(KAT6B):c.3400G>A (p.Gly1134Ser)	KAT6B (G1134S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 3020500	NM_012330.4(KAT6B):c.1002A>C (p.Ile334=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 3020374	NM_012330.4(KAT6B):c.768A>G (p.Thr256=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 3018695	NM_012330.4(KAT6B):c.4602C>T (p.Thr1534=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 3018360	NM_012330.4(KAT6B):c.622C>T (p.Pro208Ser)	KAT6B (P208S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 3017319	NM_012330.4(KAT6B):c.1917G>A (p.Val639=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 3016832	NM_012330.4(KAT6B):c.467C>T (p.Ala156Val)	KAT6B (A156V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 3016306	NM_012330.4(KAT6B):c.658T>C (p.Leu220=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 3015723	NM_012330.4(KAT6B):c.4144C>A (p.Pro1382Thr)	KAT6B (P1199T +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 3009306	NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met)	KAT6B (T1960M +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 3007958	NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser)	KAT6B (G474S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 3003431	NM_012330.4(KAT6B):c.3954G>A (p.Leu1318=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 3003162	NM_012330.4(KAT6B):c.54G>A (p.Gln18=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2999525	NM_012330.4(KAT6B):c.4120GGA[2] (p.Gly1376del)	KAT6B (G813del +7 more)	Microsatellite (inframe_deletion)	Genitopatellar syndrome	GUncertain significance
Select item 2995926	NM_012330.4(KAT6B):c.3288_3299del (p.Glu1101_Glu1104del)	KAT6B	Deletion (inframe_deletion)	Genitopatellar syndrome	GLikely benign
Select item 2994111	NM_012330.4(KAT6B):c.3102A>G (p.Gln1034=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2992093	NM_012330.4(KAT6B):c.1646A>G (p.His549Arg)	KAT6B (H549R)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2991609	NM_012330.4(KAT6B):c.930G>T (p.Gly310=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2991365	NM_012330.4(KAT6B):c.4208C>T (p.Ala1403Val)	KAT6B (A1057V +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2990436	NM_012330.4(KAT6B):c.48T>C (p.Ala16=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2989292	NM_012330.4(KAT6B):c.5949C>T (p.Asn1983=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2988584	NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys)	KAT6B (F580C +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2986831	NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del)	KAT6B	Deletion (inframe_deletion)	Genitopatellar syndrome	GLikely benign
Select item 2985838	NM_012330.4(KAT6B):c.2968A>G (p.Ile990Val)	KAT6B (I807V +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2985048	NM_012330.4(KAT6B):c.1251C>T (p.Ser417=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2983319	NM_012330.4(KAT6B):c.3373-20A>G	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome	GLikely benign
Select item 2982321	NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr)	KAT6B (A1155T +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2977858	NM_012330.4(KAT6B):c.1147A>G (p.Thr383Ala)	KAT6B (T383A)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2977857	NM_012330.4(KAT6B):c.1145C>A (p.Thr382Asn)	KAT6B (T382N)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2977204	NM_012330.4(KAT6B):c.1756C>G (p.His586Asp)	KAT6B (H586D)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2973249	NM_012330.4(KAT6B):c.6198C>T (p.Leu2066=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2971849	NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)	KAT6B (N100S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
Select item 2970988	NM_012330.4(KAT6B):c.2095G>A (p.Ala699Thr)	KAT6B (A407T +3 more)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2970912	NM_012330.4(KAT6B):c.4495_4496inv (p.Val1499Thr)	KAT6B (V1153T +7 more)	Inversion (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2966388	NM_012330.4(KAT6B):c.3165A>C (p.Thr1055=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign

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