KDM4B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	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 1704144	NM_015015.3(KDM4B):c.26A>G (p.Gln9Arg)	KDM4B (Q9R)	Single nucleotide variant (missense variant)	not provided	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 2636682	NM_015015.3(KDM4B):c.55C>T (p.Arg19Cys)	KDM4B (R19C)	Single nucleotide variant (missense variant)	KDM4B-related condition	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 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 1804800	NM_015015.3(KDM4B):c.86A>G (p.Asn29Ser)	KDM4B (N29S)	Single nucleotide variant (missense variant)	not specified	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 2579404	NM_015015.3(KDM4B):c.144C>G (p.Ile48Met)	KDM4B (I48M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431784	NM_015015.3(KDM4B):c.167C>T (p.Pro56Leu)	KDM4B (P56L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	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 2649086	NM_015015.3(KDM4B):c.195C>T (p.Asp65=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649087	NM_015015.3(KDM4B):c.207G>A (p.Pro69=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 983500	NM_015015.3(KDM4B):c.288C>T (p.Gly96=)	KDM4B	Single nucleotide variant (synonymous variant)	Syndromic global developmental delay	GLikely pathogenic
Select item 1343257	NM_015015.3(KDM4B):c.313G>A (p.Glu105Lys)	KDM4B (E105K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	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 1224153	NM_015015.3(KDM4B):c.348T>C (p.Asp116=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1690528	NM_015015.3(KDM4B):c.359G>A (p.Arg120His)	KDM4B (R120H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 1312409	NM_015015.3(KDM4B):c.432+2dup	KDM4B	Duplication (splice donor variant)	not provided	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 711529	NM_015015.3(KDM4B):c.433-4A>G	KDM4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995695	NM_015015.3(KDM4B):c.433-2A>G	KDM4B	Single nucleotide variant (splice acceptor 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 1321154	NM_015015.3(KDM4B):c.454G>A (p.Gly152Arg)	KDM4B (G152R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 777489	NM_015015.3(KDM4B):c.495C>T (p.Cys165=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1806501	NM_015015.3(KDM4B):c.519C>G (p.Asn173Lys)	KDM4B (N173K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2581905	NM_015015.3(KDM4B):c.589A>G (p.Ser197Gly)	KDM4B (S197G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254343	NM_015015.3(KDM4B):c.626+11G>A	KDM4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098738	NM_015015.3(KDM4B):c.659T>C (p.Leu220Pro)	KDM4B (L220P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 65	GPathogenic
Select item 983228	NM_015015.3(KDM4B):c.664C>T (p.Arg222Trp)	KDM4B (R222W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1700848	NM_015015.3(KDM4B):c.778C>G (p.Arg260Gly)	KDM4B (R260G)	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 793573	NM_015015.3(KDM4B):c.795C>T (p.Ala265=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1327270	NM_015015.3(KDM4B):c.803T>C (p.Phe268Ser)	KDM4B (F268S)	Single nucleotide variant (missense variant)	not provided	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
Select item 2257769	NM_015015.3(KDM4B):c.877G>A (p.Ala293Thr)	KDM4B (A293T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785602	NM_015015.3(KDM4B):c.882C>A (p.Thr294=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710673	NM_015015.3(KDM4B):c.900C>T (p.Tyr300=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2193411	NM_015015.3(KDM4B):c.950C>T (p.Ser317Phe)	KDM4B (S317F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430508	NM_015015.3(KDM4B):c.953T>C (p.Met318Thr)	KDM4B (M318T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727939	NM_015015.3(KDM4B):c.990C>T (p.Tyr330=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2309104	NM_015015.3(KDM4B):c.1033A>G (p.Thr345Ala)	KDM4B (T345A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315204	NM_015015.3(KDM4B):c.1037G>A (p.Arg346Gln)	KDM4B (R346Q)	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 2308834	NM_015015.3(KDM4B):c.1052C>G (p.Thr351Ser)	KDM4B (T351S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 782320	NM_015015.3(KDM4B):c.1059C>T (p.Pro353=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2573909	NM_015015.3(KDM4B):c.1072T>C (p.Trp358Arg)	KDM4B (W358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222540	NM_015015.3(KDM4B):c.1080A>G (p.Ala360=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2649089	NM_015015.3(KDM4B):c.1105C>T (p.Leu369Phe)	KDM4B (L369F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649090	NM_015015.3(KDM4B):c.1115+558del	KDM4B (T373fs)	Deletion (frameshift 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 2649092	NM_015015.3(KDM4B):c.1115+639G>A	KDM4B (A400T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2649094	NM_015015.3(KDM4B):c.1115+990G>C	KDM4B (R440P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1701834	NM_015015.3(KDM4B):c.1135C>T (p.Gln379Ter)	KDM4B (Q379*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1684134	NM_015015.3(KDM4B):c.1151A>C (p.Lys384Thr)	KDM4B (K384T)	Single nucleotide variant (missense variant)	not provided	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 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 1804113	NM_015015.3(KDM4B):c.1198_1222del (p.Ala399_Leu400insTer)	KDM4B	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal dominant 65	GLikely pathogenic
Select item 2365378	NM_015015.3(KDM4B):c.1196C>A (p.Ala399Glu)	KDM4B (A399E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2248834	NM_015015.3(KDM4B):c.1241C>T (p.Pro414Leu)	KDM4B (P414L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433054	NM_015015.3(KDM4B):c.1255GAG[7] (p.Glu424_Pro425insGlu)	KDM4B	Microsatellite (inframe_indel +1 more)	Intellectual developmental disorder, autosomal dominant 65	GUncertain significance
Select item 1675715	NM_015015.3(KDM4B):c.1287A>G (p.Pro429=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396781	NM_015015.3(KDM4B):c.1291G>A (p.Gly431Ser)	KDM4B (G465S +1 more)	Single nucleotide variant (missense variant)	KDM4B-related condition +1 more	GConflicting classifications of pathogenicity
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 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 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 1694884	NM_015015.3(KDM4B):c.1315+8C>T	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 2649096	NM_015015.3(KDM4B):c.1315+3676T>C	KDM4B	Single nucleotide variant (intron 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 785603	NM_015015.3(KDM4B):c.1320C>T (p.Asp440=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2430309	NM_015015.3(KDM4B):c.1336C>T (p.Arg446Trp)	KDM4B (R446W +1 more)	Single nucleotide variant (missense variant)	not provided +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 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 710770	NM_015015.3(KDM4B):c.1377C>T (p.Phe459=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2507309	NM_015015.3(KDM4B):c.1392_1406dup (p.Pro469_Pro470insGlnLeuProProPro)	KDM4B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2328951	NM_015015.3(KDM4B):c.1391C>G (p.Pro464Arg)	KDM4B (P464R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309901	NM_015015.3(KDM4B):c.1395G>T (p.Gln465His)	KDM4B (Q465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2649099	NM_015015.3(KDM4B):c.1401G>A (p.Pro467=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2588818	NM_015015.3(KDM4B):c.1406C>T (p.Pro469Leu)	KDM4B (P469L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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