ClinVar for Gene (Select 23030) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113801	NM_015015.3(KDM4B):c.432+1G>A	KDM4B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3113800	NM_015015.3(KDM4B):c.3122G>A (p.Ser1041Asn)	KDM4B (S1075N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113799	NM_015015.3(KDM4B):c.3121A>G (p.Ser1041Gly)	KDM4B (S1075G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113798	NM_015015.3(KDM4B):c.2032G>A (p.Ala678Thr)	KDM4B (A678T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113797	NM_015015.3(KDM4B):c.1891G>T (p.Ala631Ser)	KDM4B (A631S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113796	NM_015015.3(KDM4B):c.169C>T (p.Arg57Trp)	KDM4B (R57W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113795	NM_015015.3(KDM4B):c.1540C>T (p.Pro514Ser)	KDM4B (P514S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113794	NM_015015.3(KDM4B):c.1463C>T (p.Pro488Leu)	KDM4B (P488L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113793	NM_015015.3(KDM4B):c.1414C>A (p.His472Asn)	KDM4B (H506N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113792	NM_015015.3(KDM4B):c.1373G>A (p.Ser458Asn)	KDM4B (S492N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113791	NM_015015.3(KDM4B):c.1309G>A (p.Ala437Thr)	KDM4B (A437T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113790	NM_015015.3(KDM4B):c.1294C>T (p.Arg432Trp)	KDM4B (R466W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113789	NM_015015.3(KDM4B):c.1180G>A (p.Gly394Ser)	KDM4B (G394S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113788	NM_015015.3(KDM4B):c.1084C>T (p.Arg362Trp)	KDM4B (R362W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113787	NM_015015.3(KDM4B):c.1043C>T (p.Thr348Met)	KDM4B (T348M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068476	NM_015015.3(KDM4B):c.1217del (p.Gly406fs)	KDM4B (G406fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 65	GLikely pathogenic
Select item 3068103	NM_015015.3(KDM4B):c.3103C>T (p.Arg1035Cys)	KDM4B (R1035C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 3062355	NM_015015.3(KDM4B):c.994_998del (p.Leu332fs)	KDM4B (L332fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 65	GLikely pathogenic
Select item 3054116	NM_015015.3(KDM4B):c.1726G>A (p.Gly576Ser)	KDM4B, LOC130063244 (G576S +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GLikely benign
Select item 3045240	NM_015015.3(KDM4B):c.1624C>G (p.Gln542Glu)	KDM4B, LOC130063244 (Q542E +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 3032480	NM_015015.3(KDM4B):c.2937G>C (p.Glu979Asp)	KDM4B (E1013D +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 3032364	NM_015015.3(KDM4B):c.3145G>A (p.Ala1049Thr)	KDM4B (A1049T +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GLikely benign
Select item 3031276	NM_015015.3(KDM4B):c.1184C>T (p.Thr395Met)	KDM4B (T395M +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GLikely benign
Select item 3026276	NM_015015.3(KDM4B):c.2234C>T (p.Ala745Val)	KDM4B (A745V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025621	NM_015015.3(KDM4B):c.1951G>A (p.Ala651Thr)	KDM4B (A651T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024242	NM_015015.3(KDM4B):c.1858_1861dup (p.Arg621fs)	KDM4B (R621fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 2921151	NM_015015.3(KDM4B):c.2614G>A (p.Glu872Lys)	KDM4B (E872K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 2920697	NM_015015.3(KDM4B):c.496G>A (p.Gly166Ser)	KDM4B (G166S)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2901132	NM_015015.3(KDM4B):c.3077T>A (p.Leu1026Gln)	KDM4B (L1026Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888053	NM_015015.3(KDM4B):c.1321G>A (p.Gly441Arg)	KDM4B (G475R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729364	NM_015015.3(KDM4B):c.2482C>T (p.Arg828Cys)	KDM4B (R828C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692476	NM_015015.3(KDM4B):c.1584G>T (p.Met528Ile)	KDM4B (M528I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689299	NM_015015.3(KDM4B):c.1774G>A (p.Gly592Arg)	KDM4B, LOC130063244 (G592R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2671922	NM_015015.3(KDM4B):c.520A>G (p.Thr174Ala)	KDM4B (T174A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2664875	NM_015015.3(KDM4B):c.2550+2T>C	KDM4B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal dominant 65	GLikely pathogenic
Select item 2649108	NM_015015.3(KDM4B):c.3244G>C (p.Val1082Leu)	KDM4B (V1082L +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition +1 more	GLikely benign
Select item 2649107	NM_015015.3(KDM4B):c.3154G>A (p.Gly1052Arg)	KDM4B (G1052R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649106	NM_015015.3(KDM4B):c.2754C>T (p.Ala918=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649105	NM_015015.3(KDM4B):c.2475C>T (p.Pro825=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649104	NM_015015.3(KDM4B):c.1878G>C (p.Val626=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649103	NM_015015.3(KDM4B):c.1750C>T (p.Arg584Cys)	KDM4B, LOC130063244 (R584C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649102	NM_015015.3(KDM4B):c.1732G>C (p.Ala578Pro)	KDM4B, LOC130063244 (A578P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2649101	NM_015015.3(KDM4B):c.1551G>A (p.Glu517=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649100	NM_015015.3(KDM4B):c.1433C>T (p.Ala478Val)	KDM4B (A478V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649099	NM_015015.3(KDM4B):c.1401G>A (p.Pro467=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649098	NM_015015.3(KDM4B):c.1401_1402insGGG (p.Pro467_Pro468insGly)	KDM4B	Insertion (inframe_insertion)	Intellectual developmental disorder, autosomal dominant 65 +1 more	GConflicting classifications of pathogenicity
Select item 2649097	NM_015015.3(KDM4B):c.1346A>G (p.Lys449Arg)	KDM4B (K449R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649096	NM_015015.3(KDM4B):c.1315+3676T>C	KDM4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649095	NM_015015.3(KDM4B):c.1315+3646C>T	KDM4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649094	NM_015015.3(KDM4B):c.1115+990G>C	KDM4B (R440P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2649093	NM_015015.3(KDM4B):c.1115+695A>C	KDM4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649092	NM_015015.3(KDM4B):c.1115+639G>A	KDM4B (A400T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2649091	NM_015015.3(KDM4B):c.1115+611G>A	KDM4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649090	NM_015015.3(KDM4B):c.1115+558del	KDM4B (T373fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2649089	NM_015015.3(KDM4B):c.1105C>T (p.Leu369Phe)	KDM4B (L369F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649088	NM_015015.3(KDM4B):c.791A>T (p.Glu264Val)	KDM4B (E264V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649087	NM_015015.3(KDM4B):c.207G>A (p.Pro69=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649086	NM_015015.3(KDM4B):c.195C>T (p.Asp65=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649085	NM_015015.3(KDM4B):c.65T>C (p.Met22Thr)	KDM4B (M22T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2649084	NM_015015.3(KDM4B):c.51G>A (p.Thr17=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637399	NM_015015.3(KDM4B):c.3188T>C (p.Val1063Ala)	KDM4B (V1063A +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 2636682	NM_015015.3(KDM4B):c.55C>T (p.Arg19Cys)	KDM4B (R19C)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 2635137	NM_015015.3(KDM4B):c.350A>G (p.Asp117Gly)	KDM4B (D117G)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 2634325	NM_015015.3(KDM4B):c.331C>T (p.Arg111Trp)	KDM4B (R111W)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 2632312	NM_015015.3(KDM4B):c.2252ACG[3] (p.Asp752_Gly753insAsp)	KDM4B	Microsatellite (inframe_insertion)	KDM4B-related condition	GUncertain significance
Select item 2630098	NM_015015.3(KDM4B):c.2276C>T (p.Ala759Val)	KDM4B (A759V +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 2629868	NM_015015.3(KDM4B):c.1717C>T (p.Pro573Ser)	KDM4B, LOC130063244 (P573S +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition	GUncertain significance
Select item 2615960	NM_015015.3(KDM4B):c.1295G>A (p.Arg432Gln)	KDM4B (R432Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614516	NM_015015.3(KDM4B):c.2431A>T (p.Thr811Ser)	KDM4B (T811S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598588	NM_015015.3(KDM4B):c.2039C>T (p.Thr680Met)	KDM4B (T680M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594478	NM_015015.3(KDM4B):c.2653G>A (p.Ala885Thr)	KDM4B (A919T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592829	NM_015015.3(KDM4B):c.56G>A (p.Arg19His)	KDM4B (R19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588818	NM_015015.3(KDM4B):c.1406C>T (p.Pro469Leu)	KDM4B (P469L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582757	NM_015015.3(KDM4B):c.2518A>C (p.Ile840Leu)	KDM4B (I840L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 2581905	NM_015015.3(KDM4B):c.589A>G (p.Ser197Gly)	KDM4B (S197G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581688	NM_015015.3(KDM4B):c.1402C>T (p.Pro468Ser)	KDM4B (P468S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579404	NM_015015.3(KDM4B):c.144C>G (p.Ile48Met)	KDM4B (I48M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579403	NM_015015.3(KDM4B):c.92A>G (p.Tyr31Cys)	KDM4B (Y31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578816	NM_015015.3(KDM4B):c.2628G>A (p.Thr876=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576583	NM_015015.3(KDM4B):c.1316-1G>A	KDM4B	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal dominant 65	GLikely pathogenic
Select item 2573909	NM_015015.3(KDM4B):c.1072T>C (p.Trp358Arg)	KDM4B (W358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572929	NM_015015.3(KDM4B):c.2846A>C (p.Glu949Ala)	KDM4B (E949A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572176	NM_015015.3(KDM4B):c.209C>T (p.Ala70Val)	KDM4B (A70V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559491	NM_015015.3(KDM4B):c.2164C>G (p.Gln722Glu)	KDM4B (Q756E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531340	NM_015015.3(KDM4B):c.3197C>T (p.Pro1066Leu)	KDM4B (P1066L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524460	NM_015015.3(KDM4B):c.2813G>A (p.Arg938His)	KDM4B (R938H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522895	NM_015015.3(KDM4B):c.1633G>C (p.Val545Leu)	KDM4B, LOC130063244 (V579L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519553	NM_015015.3(KDM4B):c.1060G>A (p.Glu354Lys)	KDM4B (E354K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517663	NM_015015.3(KDM4B):c.2384C>T (p.Ala795Val)	KDM4B (A829V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507309	NM_015015.3(KDM4B):c.1392_1406dup (p.Pro469_Pro470insGlnLeuProProPro)	KDM4B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2504408	NM_015015.3(KDM4B):c.760T>A (p.Tyr254Asn)	KDM4B (Y254N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504350	NM_015015.3(KDM4B):c.436G>A (p.Val146Met)	KDM4B (V146M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502683	NM_015015.3(KDM4B):c.2425A>G (p.Met809Val)	KDM4B (M809V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502130	NM_015015.3(KDM4B):c.2173C>T (p.Arg725Ter)	KDM4B (R725* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2500804	NM_015015.3(KDM4B):c.2T>C (p.Met1Thr)	KDM4B (M1T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 2490473	NM_015015.3(KDM4B):c.796G>A (p.Gly266Arg)	KDM4B (G266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475651	NM_015015.3(KDM4B):c.432+5G>T	KDM4B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2467236	NM_015015.3(KDM4B):c.2339A>G (p.Asn780Ser)	KDM4B (N780S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443404	NM_015015.3(KDM4B):c.847G>A (p.Gly283Arg)	KDM4B (G283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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