ClinVar for MedGen (Select 381208) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Genitopatellar syndrome	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 (intron 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
Select item 2965577	NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys)	KAT6B (E1005K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2964754	NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys)	KAT6B (S1198C +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GBenign
Select item 2963932	NM_012330.4(KAT6B):c.3331C>T (p.Pro1111Ser)	KAT6B (P756S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2963733	NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr)	KAT6B (A261T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
Select item 2962541	NM_012330.4(KAT6B):c.460C>G (p.Leu154Val)	KAT6B (L154V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2961104	NM_012330.4(KAT6B):c.4758C>G (p.Thr1586=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2959217	NM_012330.4(KAT6B):c.4908C>T (p.Ile1636=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2955480	NM_012330.4(KAT6B):c.3671T>A (p.Met1224Lys)	KAT6B (M661K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2955067	NM_012330.4(KAT6B):c.4297C>T (p.His1433Tyr)	KAT6B (H1078Y +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2920292	NM_012330.4(KAT6B):c.1849A>G (p.Ile617Val)	KAT6B (I617V)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2919849	NM_012330.4(KAT6B):c.1494C>T (p.Thr498=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2919453	NM_012330.4(KAT6B):c.4492G>T (p.Ala1498Ser)	KAT6B (A1498S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2918976	NM_012330.4(KAT6B):c.2862-11T>C	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome	GLikely benign
Select item 2918106	NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr)	KAT6B (A1121T +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2917846	NM_012330.4(KAT6B):c.3328C>T (p.Pro1110Ser)	KAT6B (P415S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2917316	NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala)	KAT6B (T1170A +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GBenign
Select item 2917303	NM_012330.4(KAT6B):c.5208G>A (p.Gln1736=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2916824	NM_012330.4(KAT6B):c.5641C>T (p.Pro1881Ser)	KAT6B (P1318S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2916602	NM_012330.4(KAT6B):c.2238A>C (p.Pro746=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2916222	NM_012330.4(KAT6B):c.1404C>T (p.Val468=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2915728	NM_012330.4(KAT6B):c.4171G>A (p.Glu1391Lys)	KAT6B (E1208K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2914260	NM_012330.4(KAT6B):c.4694C>T (p.Thr1565Ile)	KAT6B (T1273I +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2912966	NM_012330.4(KAT6B):c.451C>A (p.Arg151=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2912054	NM_012330.4(KAT6B):c.3289GAA[12] (p.Glu1104_Asn1105insGluGluGluGlu)	KAT6B	Microsatellite (inframe_insertion)	Genitopatellar syndrome	GUncertain significance
Select item 2910685	NM_012330.4(KAT6B):c.4414G>C (p.Glu1472Gln)	KAT6B (E1180Q +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2910492	NM_012330.4(KAT6B):c.621+17T>C	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome	GLikely benign
Select item 2910327	NM_012330.4(KAT6B):c.3243A>G (p.Glu1081=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2909383	NM_012330.4(KAT6B):c.3296_3297insGGAAGA (p.Glu1104_Asn1105insGluGlu)	KAT6B	Insertion (inframe_insertion)	Genitopatellar syndrome	GUncertain significance
Select item 2909188	NM_012330.4(KAT6B):c.1061+13C>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome	GLikely benign
Select item 2909184	NM_012330.4(KAT6B):c.2861+8C>G	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome	GLikely benign
Select item 2908466	NM_012330.4(KAT6B):c.4004C>T (p.Pro1335Leu)	KAT6B (P980L +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2901398	NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val)	KAT6B (A1269V +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GBenign
Select item 2901385	NM_012330.4(KAT6B):c.3228_3242del (p.Asp1077_Glu1081del)	KAT6B	Deletion (inframe_deletion)	Genitopatellar syndrome	GUncertain significance
Select item 2899267	NM_012330.4(KAT6B):c.1932G>A (p.Gly644=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2897404	NM_012330.4(KAT6B):c.5357A>C (p.Glu1786Ala)	KAT6B (E1091A +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GLikely benign
Select item 2892840	NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)	KAT6B (C1244R +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2891893	NM_012330.4(KAT6B):c.3373-13G>A	KAT6B	Single nucleotide variant (intron variant)	Genitopatellar syndrome	GLikely benign
Select item 2891891	NM_012330.4(KAT6B):c.1543T>A (p.Ser515Thr)	KAT6B (S515T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2890736	NM_012330.4(KAT6B):c.4829C>G (p.Ser1610Cys)	KAT6B (S1610C +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2889085	NM_012330.4(KAT6B):c.2655C>A (p.Gly885=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2888747	NM_012330.4(KAT6B):c.1901G>C (p.Arg634Thr)	KAT6B (R634T)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2888581	NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly)	KAT6B (S54G)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2887701	NM_012330.4(KAT6B):c.4760C>A (p.Thr1587Lys)	KAT6B (T1232K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2887666	NM_012330.4(KAT6B):c.2903T>C (p.Met968Thr)	KAT6B (M273T +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2887578	NM_012330.4(KAT6B):c.4563G>A (p.Lys1521=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2884883	NM_012330.4(KAT6B):c.5918C>G (p.Pro1973Arg)	KAT6B (P1681R +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2884313	NM_012330.4(KAT6B):c.2744A>C (p.Tyr915Ser)	KAT6B (Y569S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2882285	NM_012330.4(KAT6B):c.5754C>T (p.Ala1918=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2881876	NM_012330.4(KAT6B):c.4177C>T (p.Pro1393Ser)	KAT6B (P1047S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2881132	NM_012330.4(KAT6B):c.3877A>G (p.Lys1293Glu)	KAT6B (K512E +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2880143	NM_012330.4(KAT6B):c.3303A>G (p.Glu1101=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2879691	NM_012330.4(KAT6B):c.3261_3269del (p.Glu1087_Glu1089del)	KAT6B	Deletion (inframe_deletion)	Genitopatellar syndrome	GLikely benign
Select item 2878847	NM_012330.4(KAT6B):c.476C>G (p.Ala159Gly)	KAT6B (A159G)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2877285	NM_012330.4(KAT6B):c.3136T>C (p.Leu1046=)	KAT6B	Single nucleotide variant (synonymous variant)	Genitopatellar syndrome	GLikely benign
Select item 2876933	NM_012330.4(KAT6B):c.3279G>T (p.Glu1093Asp)	KAT6B (E1093D +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2876836	NM_012330.4(KAT6B):c.1188C>T (p.Ser396=)	KAT6B	Single nucleotide variant (synonymous variant +1 more)	Genitopatellar syndrome	GLikely benign
Select item 2874916	NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys)	KAT6B (Y116C +4 more)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GBenign
Select item 2874234	NM_012330.4(KAT6B):c.361C>T (p.Pro121Ser)	KAT6B (P121S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2868471	NM_012330.4(KAT6B):c.1549C>T (p.Pro517Ser)	KAT6B (P517S)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome	GUncertain significance
Select item 2868251	NM_012330.4(KAT6B):c.3128A>G (p.Asn1043Ser)	KAT6B (N348S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2867016	NM_012330.4(KAT6B):c.5070G>A (p.Met1690Ile)	KAT6B (M1335I +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance
Select item 2866732	NM_012330.4(KAT6B):c.2822C>T (p.Thr941Ile)	KAT6B (T586I +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GUncertain significance

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