ClinVar for Gene (Select 51780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378250	NM_016604.4(KDM3B):c.3425G>A (p.Gly1142Glu)	KDM3B (G1142E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378038	NM_016604.4(KDM3B):c.2845C>T (p.Arg949Ter)	KDM3B (R949*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3377966	NM_016604.4(KDM3B):c.1572C>G (p.Asn524Lys)	KDM3B (N524K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377942	NM_016604.4(KDM3B):c.1850A>G (p.Asn617Ser)	KDM3B (N617S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373490	NM_016604.4(KDM3B):c.4034A>G (p.Glu1345Gly)	KDM3B (E1345G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373239	NM_016604.4(KDM3B):c.3475A>G (p.Thr1159Ala)	KDM3B (T1159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372521	NM_016604.4(KDM3B):c.518C>T (p.Ala173Val)	KDM3B (A173V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372133	NM_016604.4(KDM3B):c.370C>G (p.Pro124Ala)	KDM3B (P124A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371383	NM_016604.4(KDM3B):c.2854G>A (p.Val952Ile)	KDM3B (V952I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369529	NM_016604.4(KDM3B):c.3224A>G (p.Glu1075Gly)	KDM3B (E1075G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368274	NM_016604.4(KDM3B):c.4943A>G (p.His1648Arg)	KDM3B (H1648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367590	NM_016604.4(KDM3B):c.2920C>T (p.Pro974Ser)	KDM3B (P974S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365172	NM_016604.4(KDM3B):c.4850A>G (p.Tyr1617Cys)	KDM3B (Y1617C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364418	NM_016604.4(KDM3B):c.3833T>G (p.Leu1278Trp)	KDM3B (L1278W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363369	NM_016604.4(KDM3B):c.4088A>G (p.Gln1363Arg)	KDM3B (Q1363R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361483	NM_016604.4(KDM3B):c.448G>A (p.Asp150Asn)	KDM3B (D150N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361160	NM_016604.4(KDM3B):c.3397T>C (p.Ser1133Pro)	KDM3B (S1133P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360681	NM_016604.4(KDM3B):c.4364C>A (p.Ser1455Tyr)	KDM3B (S1455Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360658	NM_016604.4(KDM3B):c.4024T>A (p.Ser1342Thr)	KDM3B (S1342T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355060	NM_016604.4(KDM3B):c.2387G>T (p.Arg796Met)	KDM3B (R796M)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 3353961	NM_016604.4(KDM3B):c.4409G>A (p.Cys1470Tyr)	KDM3B (C1470Y)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 3347951	NM_016604.4(KDM3B):c.5143C>T (p.Arg1715Cys)	KDM3B (R1715C)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GUncertain significance
Select item 3343602	NM_016604.4(KDM3B):c.1762T>C (p.Ser588Pro)	KDM3B (S588P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339893	NM_016604.4(KDM3B):c.712_714delinsAAA (p.Glu238Lys)	KDM3B (E238K)	Indel (missense variant)	not specified	GUncertain significance
Select item 3339073	NM_016604.4(KDM3B):c.25G>A (p.Val9Met)	KDM3B, LOC129994737 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336444	NM_016604.4(KDM3B):c.2653G>C (p.Val885Leu)	KDM3B (V885L)	Single nucleotide variant (missense variant)	not specified	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 3287901	NM_016604.4(KDM3B):c.3490G>A (p.Gly1164Arg)	KDM3B (G1164R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287899	NM_016604.4(KDM3B):c.2036C>A (p.Ser679Tyr)	KDM3B (S679Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3287897	NM_016604.4(KDM3B):c.4906C>A (p.Gln1636Lys)	KDM3B (Q1636K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287896	NM_016604.4(KDM3B):c.2482C>G (p.Leu828Val)	KDM3B (L828V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3287894	NM_016604.4(KDM3B):c.302G>A (p.Arg101His)	KDM3B (R101H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287893	NM_016604.4(KDM3B):c.2147G>A (p.Ser716Asn)	KDM3B (S716N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3257473	NM_016604.4(KDM3B):c.30C>G (p.Gly10=)	KDM3B, LOC129994737	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254543	NM_016604.4(KDM3B):c.2206A>G (p.Ile736Val)	KDM3B (I736V)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3253010	NM_016604.4(KDM3B):c.2209G>A (p.Glu737Lys)	KDM3B (E737K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252496	NM_016604.4(KDM3B):c.2526G>A (p.Met842Ile)	KDM3B (M842I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251162	NM_016604.4(KDM3B):c.2880C>A (p.Ser960Arg)	KDM3B (S960R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251084	NM_016604.4(KDM3B):c.1877C>T (p.Pro626Leu)	KDM3B (P626L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239558	NM_016604.4(KDM3B):c.5241G>A (p.Ala1747=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236860	NM_016604.4(KDM3B):c.4976G>A (p.Arg1659His)	KDM3B (R1659H)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3236600	NM_016604.4(KDM3B):c.2252C>T (p.Thr751Ile)	KDM3B (T751I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3234710	NM_016604.4(KDM3B):c.1507T>C (p.Leu503=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234600	NM_016604.4(KDM3B):c.4136A>G (p.His1379Arg)	KDM3B (H1379R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233541	NM_016604.4(KDM3B):c.3854A>G (p.Asn1285Ser)	KDM3B (N1285S)	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 3113774	NM_016604.4(KDM3B):c.836T>C (p.Ile279Thr)	KDM3B (I279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113773	NM_016604.4(KDM3B):c.4421G>A (p.Arg1474Gln)	KDM3B (R1474Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3113771	NM_016604.4(KDM3B):c.3506C>T (p.Pro1169Leu)	KDM3B (P1169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113770	NM_016604.4(KDM3B):c.3351G>T (p.Lys1117Asn)	KDM3B (K1117N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113769	NM_016604.4(KDM3B):c.3045C>G (p.His1015Gln)	KDM3B (H1015Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113768	NM_016604.4(KDM3B):c.2359A>G (p.Asn787Asp)	KDM3B (N787D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113767	NM_016604.4(KDM3B):c.2117T>C (p.Leu706Pro)	KDM3B (L706P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113766	NM_016604.4(KDM3B):c.2022G>T (p.Trp674Cys)	KDM3B (W674C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113765	NM_016604.4(KDM3B):c.1790C>G (p.Ser597Cys)	KDM3B (S597C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113764	NM_016604.4(KDM3B):c.1695C>G (p.Ser565Arg)	KDM3B (S565R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3113762	NM_016604.4(KDM3B):c.1429C>T (p.Pro477Ser)	KDM3B (P477S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068120	NM_016604.4(KDM3B):c.3009G>A (p.Met1003Ile)	KDM3B (M1003I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	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 3065060	NM_016604.4(KDM3B):c.4861G>C (p.Asp1621His)	KDM3B (D1621H)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3063835	NM_016604.4(KDM3B):c.3398C>A (p.Ser1133Tyr)	KDM3B (S1133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058258	NM_016604.4(KDM3B):c.4194C>T (p.Asn1398=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
Select item 3056882	NM_016604.4(KDM3B):c.2856A>G (p.Val952=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GBenign
Select item 3056364	NM_016604.4(KDM3B):c.4893+9C>T	KDM3B	Single nucleotide variant (intron variant)	KDM3B-related disorder	GBenign
Select item 3055794	NM_016604.4(KDM3B):c.5022G>A (p.Val1674=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GBenign
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 3051778	NM_016604.4(KDM3B):c.1342G>C (p.Glu448Gln)	KDM3B (E448Q)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
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 3050957	NM_016604.4(KDM3B):c.4149C>T (p.Ser1383=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	GLikely benign
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 3047398	NM_016604.4(KDM3B):c.3992G>T (p.Ser1331Ile)	KDM3B (S1331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3046801	NM_016604.4(KDM3B):c.1028C>T (p.Pro343Leu)	KDM3B (P343L)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
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 3044100	NM_016604.4(KDM3B):c.580+7A>G	KDM3B	Single nucleotide variant (intron variant)	KDM3B-related disorder	GLikely benign
Select item 3042492	NM_016604.4(KDM3B):c.4419A>G (p.Leu1473=)	KDM3B	Single nucleotide variant (synonymous variant)	KDM3B-related disorder	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 3036734	NM_016604.4(KDM3B):c.1225A>C (p.Thr409Pro)	KDM3B (T409P)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
Select item 3033925	NM_016604.4(KDM3B):c.2717A>T (p.Asn906Ile)	KDM3B (N906I)	Single nucleotide variant (missense variant)	KDM3B-related disorder	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 3032134	NM_016604.4(KDM3B):c.1177C>T (p.Pro393Ser)	KDM3B (P393S)	Single nucleotide variant (missense variant)	KDM3B-related disorder	GLikely benign
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 3024885	NM_016604.4(KDM3B):c.3046+8A>T	KDM3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2998239	NM_016604.4(KDM3B):c.4774G>A (p.Glu1592Lys)	KDM3B (E1592K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2839765	NM_016604.4(KDM3B):c.4999G>A (p.Gly1667Ser)	KDM3B (G1667S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2828011	NM_016604.4(KDM3B):c.4504T>C (p.Phe1502Leu)	KDM3B (F1502L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2827924	NM_016604.4(KDM3B):c.4349A>G (p.Asn1450Ser)	KDM3B (N1450S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673279	NM_016604.4(KDM3B):c.4201A>G (p.Asn1401Asp)	KDM3B (N1401D)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 2673028	NM_016604.4(KDM3B):c.1494A>C (p.Thr498=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664201	NM_016604.4(KDM3B):c.1991C>T (p.Thr664Ile)	KDM3B (T664I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2663849	NM_016604.4(KDM3B):c.1881del (p.Lys627fs)	KDM3B (K627fs)	Deletion (frameshift variant)	Diets-Jongmans syndrome	GLikely pathogenic
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 2663517	NM_016604.4(KDM3B):c.4186C>T (p.Pro1396Ser)	KDM3B (P1396S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662725	NM_016604.4(KDM3B):c.1475C>G (p.Ser492Cys)	KDM3B (S492C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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