KDM3B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 3055328	NM_016604.4(KDM3B):c.13G>A (p.Ala5Thr)	KDM3B, LOC129994737 (A5T)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GBenign
Select item 3257473	NM_016604.4(KDM3B):c.30C>G (p.Gly10=)	KDM3B, LOC129994737	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238357	NM_016604.4(KDM3B):c.32A>G (p.Lys11Arg)	KDM3B, LOC129994737 (K11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255080	NM_016604.4(KDM3B):c.62C>G (p.Ala21Gly)	KDM3B, LOC129994737 (A21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351648	NM_016604.4(KDM3B):c.69_74del (p.23SA[2])	KDM3B, LOC129994737	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2407379	NM_016604.4(KDM3B):c.72CTCGGC[3] (p.Ala28_Pro29insSerAla)	KDM3B, LOC129994737	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 3336171	NM_016604.4(KDM3B):c.94_102dup (p.Ala34_Ser35insAlaAlaAla)	KDM3B, LOC129994737	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 1804810	NM_016604.4(KDM3B):c.92C>T (p.Ala31Val)	KDM3B, LOC129994737 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113775	NM_016604.4(KDM3B):c.97G>C (p.Ala33Pro)	KDM3B, LOC129994737 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394527	NM_016604.4(KDM3B):c.104G>A (p.Ser35Asn)	KDM3B, LOC129994737 (S35N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330047	NM_016604.4(KDM3B):c.106G>A (p.Gly36Arg)	KDM3B, LOC129994737 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509645	NM_016604.4(KDM3B):c.127C>T (p.Arg43Cys)	KDM3B, LOC129994737 (R43C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 864853	NM_016604.4(KDM3B):c.133C>T (p.Arg45Ter)	KDM3B, LOC129994737 (R45*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GPathogenic
Select item 2845962	NM_016604.4(KDM3B):c.136G>T (p.Ala46Ser)	KDM3B, LOC129994737 (A46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663542	NM_016604.4(KDM3B):c.141G>T (p.Trp47Cys)	KDM3B, LOC129994737 (W47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227741	NM_016604.4(KDM3B):c.264C>T (p.Ile88=)	KDM3B	Single nucleotide variant (synonymous variant)	Diets-Jongmans syndrome +2 more	GBenign
Select item 1317421	NM_016604.4(KDM3B):c.265G>A (p.Val89Met)	KDM3B (V89M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864849	NM_016604.4(KDM3B):c.277G>T (p.Glu93Ter)	KDM3B (E93*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GPathogenic
Select item 3287894	NM_016604.4(KDM3B):c.302G>A (p.Arg101His)	KDM3B (R101H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696884	NM_016604.4(KDM3B):c.311C>T (p.Pro104Leu)	KDM3B (P104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701906	NM_016604.4(KDM3B):c.331C>T (p.Arg111Ter)	KDM3B (R111*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 2632477	NM_016604.4(KDM3B):c.361A>G (p.Thr121Ala)	KDM3B (T121A)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 1708472	NM_016604.4(KDM3B):c.368C>T (p.Thr123Ile)	KDM3B (T123I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2431858	NM_016604.4(KDM3B):c.423G>A (p.Leu141=)	KDM3B	Single nucleotide variant (synonymous variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 1706594	NM_016604.4(KDM3B):c.427C>T (p.Arg143Ter)	KDM3B (R143*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 3113772	NM_016604.4(KDM3B):c.437G>A (p.Arg146Gln)	KDM3B (R146Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287898	NM_016604.4(KDM3B):c.455A>G (p.Asn152Ser)	KDM3B (N152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985344	NM_016604.4(KDM3B):c.474+1G>C	KDM3B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2634040	NM_016604.4(KDM3B):c.486T>G (p.Asp162Glu)	KDM3B (D162E)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 1320828	NM_016604.4(KDM3B):c.495C>A (p.Asn165Lys)	KDM3B (N165K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276794	NM_016604.4(KDM3B):c.508G>C (p.Glu170Gln)	KDM3B (E170Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634493	NM_016604.4(KDM3B):c.509A>G (p.Glu170Gly)	KDM3B (E170G)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 3287892	NM_016604.4(KDM3B):c.528A>T (p.Glu176Asp)	KDM3B (E176D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378344	NM_016604.4(KDM3B):c.578G>A (p.Arg193Gln)	KDM3B (R193Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044100	NM_016604.4(KDM3B):c.580+7A>G	KDM3B	Single nucleotide variant (intron variant)	KDM3B-related disorder	GLikely benign
Select item 758204	NM_016604.4(KDM3B):c.580+8C>T	KDM3B	Single nucleotide variant (intron variant)	KDM3B-related disorder +1 more	GLikely benign
Select item 1704579	NM_016604.4(KDM3B):c.583C>A (p.Pro195Thr)	KDM3B (P195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 971547	NM_016604.4(KDM3B):c.607del (p.Val203fs)	KDM3B (V203fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2655714	NM_016604.4(KDM3B):c.675C>T (p.Ile225=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985409	NM_016604.4(KDM3B):c.680G>A (p.Arg227His)	KDM3B (R227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031870	NM_016604.4(KDM3B):c.693G>A (p.Val231=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
Select item 1300056	NM_016604.4(KDM3B):c.714G>A (p.Glu238=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder +1 more	GBenign
Select item 2442546	NM_016604.4(KDM3B):c.727G>C (p.Asp243His)	KDM3B (D243H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300057	NM_016604.4(KDM3B):c.766G>A (p.Ala256Thr)	KDM3B (A256T)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GBenign
Select item 783136	NM_016604.4(KDM3B):c.766= (p.Ala256=)	KDM3B	Variation (no sequence alteration)	not provided	GBenign
Select item 2261165	NM_016604.4(KDM3B):c.781G>T (p.Gly261Trp)	KDM3B (G261W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789583	NM_016604.4(KDM3B):c.804A>G (p.Lys268=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder +1 more	GLikely benign
Select item 3038562	NM_016604.4(KDM3B):c.810C>T (p.Ser270=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
Select item 3113774	NM_016604.4(KDM3B):c.836T>C (p.Ile279Thr)	KDM3B (I279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2633375	NM_016604.4(KDM3B):c.847G>C (p.Asp283His)	KDM3B (D283H)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 2529511	NM_016604.4(KDM3B):c.853C>T (p.Arg285Trp)	KDM3B (R285W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636967	NM_016604.4(KDM3B):c.880G>C (p.Gly294Arg)	KDM3B (G294R)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 2578983	NM_016604.4(KDM3B):c.943G>C (p.Asp315His)	KDM3B (D315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299003	NM_016604.4(KDM3B):c.943G>A (p.Asp315Asn)	KDM3B (D315N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1184390	NM_016604.4(KDM3B):c.950G>T (p.Gly317Val)	KDM3B (G317V)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 1804487	NM_016604.4(KDM3B):c.962G>T (p.Arg321Leu)	KDM3B (R321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864850	NM_016604.4(KDM3B):c.1007A>G (p.Asp336Gly)	KDM3B (D336G)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GPathogenic
Select item 3046801	NM_016604.4(KDM3B):c.1028C>T (p.Pro343Leu)	KDM3B (P343L)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
Select item 2573730	NM_016604.4(KDM3B):c.1051A>C (p.Asn351His)	KDM3B (N351H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263415	NM_016604.4(KDM3B):c.1060A>G (p.Ile354Val)	KDM3B (I354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2529091	NM_016604.4(KDM3B):c.1087A>C (p.Asn363His)	KDM3B (N363H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046913	NM_016604.4(KDM3B):c.1134A>T (p.Thr378=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
Select item 2655715	NM_016604.4(KDM3B):c.1147A>C (p.Thr383Pro)	KDM3B (T383P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3032134	NM_016604.4(KDM3B):c.1177C>T (p.Pro393Ser)	KDM3B (P393S)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
Select item 2619739	NM_016604.4(KDM3B):c.1189G>A (p.Glu397Lys)	KDM3B (E397K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636669	NM_016604.4(KDM3B):c.1204G>A (p.Glu402Lys)	KDM3B (E402K)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 2539975	NM_016604.4(KDM3B):c.1216G>A (p.Ala406Thr)	KDM3B (A406T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036734	NM_016604.4(KDM3B):c.1225A>C (p.Thr409Pro)	KDM3B (T409P)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
Select item 2636771	NM_016604.4(KDM3B):c.1231G>C (p.Glu411Gln)	KDM3B (E411Q)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 2552440	NM_016604.4(KDM3B):c.1235A>T (p.Gln412Leu)	KDM3B (Q412L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046659	NM_016604.4(KDM3B):c.1259C>G (p.Ser420Cys)	KDM3B (S420C)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 1690492	NM_016604.4(KDM3B):c.1299A>T (p.Thr433=)	KDM3B	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 3066293	NM_016604.4(KDM3B):c.1309_1310del (p.Ser437fs)	KDM3B (S437fs)	Microsatellite (frameshift variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3032202	NM_016604.4(KDM3B):c.1312G>A (p.Asp438Asn)	KDM3B (D438N)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
Select item 3287895	NM_016604.4(KDM3B):c.1313A>G (p.Asp438Gly)	KDM3B (D438G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735011	NM_016604.4(KDM3B):c.1316C>G (p.Thr439Ser)	KDM3B (T439S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3051778	NM_016604.4(KDM3B):c.1342G>C (p.Glu448Gln)	KDM3B (E448Q)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
Select item 2375297	NM_016604.4(KDM3B):c.1370C>G (p.Ala457Gly)	KDM3B (A457G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051041	NM_016604.4(KDM3B):c.1371C>T (p.Ala457=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
Select item 2197709	NM_016604.4(KDM3B):c.1373C>T (p.Ser458Leu)	KDM3B (S458L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3113762	NM_016604.4(KDM3B):c.1429C>T (p.Pro477Ser)	KDM3B (P477S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2655716	NM_016604.4(KDM3B):c.1437A>G (p.Ser479=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2662725	NM_016604.4(KDM3B):c.1475C>G (p.Ser492Cys)	KDM3B (S492C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323540	NM_016604.4(KDM3B):c.1478A>G (p.Asn493Ser)	KDM3B (N493S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2673028	NM_016604.4(KDM3B):c.1494A>C (p.Thr498=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234710	NM_016604.4(KDM3B):c.1507T>C (p.Leu503=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2231821	NM_016604.4(KDM3B):c.1525T>A (p.Cys509Ser)	KDM3B (C509S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049377	NM_016604.4(KDM3B):c.1536A>G (p.Ala512=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
Select item 2499815	NM_016604.4(KDM3B):c.1592C>T (p.Ser531Phe)	KDM3B (S531F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3113763	NM_016604.4(KDM3B):c.1622C>G (p.Thr541Ser)	KDM3B (T541S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2542610	NM_016604.4(KDM3B):c.1643C>G (p.Ala548Gly)	KDM3B (A548G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662046	NM_016604.4(KDM3B):c.1652C>A (p.Ser551Tyr)	KDM3B (S551Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2226958	NM_016604.4(KDM3B):c.1679G>A (p.Ser560Asn)	KDM3B (S560N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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