ClinVar for Gene (Select 23135) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338641	NM_001348716.2(KDM6B):c.3673+4A>G	KDM6B	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3337264	NM_001348716.2(KDM6B):c.4090_4091del (p.Ser1364fs)	KDM6B, LOC121587574 (S1364fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337214	NM_001348716.2(KDM6B):c.4165G>T (p.Gly1389Cys)	KDM6B, LOC121587574 (G1389C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3287988	NM_001348716.2(KDM6B):c.2591C>T (p.Ser864Phe)	KDM6B (S864F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287987	NM_001348716.2(KDM6B):c.2825C>T (p.Ala942Val)	KDM6B (A942V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287986	NM_001348716.2(KDM6B):c.421G>A (p.Ala141Thr)	KDM6B (A141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287985	NM_001348716.2(KDM6B):c.1218C>G (p.Ser406Arg)	KDM6B (S406R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287984	NM_001348716.2(KDM6B):c.640C>T (p.Leu214Phe)	KDM6B (L214F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287983	NM_001348716.2(KDM6B):c.4908+16G>A	KDM6B (A1642T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287981	NM_001348716.2(KDM6B):c.2260A>G (p.Thr754Ala)	KDM6B (T754A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287980	NM_001348716.2(KDM6B):c.2024C>A (p.Pro675His)	KDM6B (P675H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287979	NM_001348716.2(KDM6B):c.197G>A (p.Ser66Asn)	KDM6B (S66N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287978	NM_001348716.2(KDM6B):c.4259C>G (p.Thr1420Ser)	KDM6B, LOC121587574 (T1420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287977	NM_001348716.2(KDM6B):c.1975G>A (p.Gly659Arg)	KDM6B (G659R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287976	NM_001348716.2(KDM6B):c.3970C>A (p.His1324Asn)	KDM6B, LOC121587574 (H1324N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287975	NM_001348716.2(KDM6B):c.740C>T (p.Pro247Leu)	KDM6B (P247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287974	NM_001348716.2(KDM6B):c.413G>C (p.Gly138Ala)	KDM6B (G138A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287973	NM_001348716.2(KDM6B):c.1586C>T (p.Pro529Leu)	KDM6B (P529L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287972	NM_001348716.2(KDM6B):c.1537C>T (p.Arg513Cys)	KDM6B (R513C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287971	NM_001348716.2(KDM6B):c.1881C>G (p.Ser627Arg)	KDM6B (S627R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257425	NM_001348716.2(KDM6B):c.3543C>T (p.Leu1181=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256704	NM_001348716.2(KDM6B):c.3995T>A (p.Ile1332Asn)	KDM6B, LOC121587574 (I1332N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3256576	NM_001348716.2(KDM6B):c.3879+1dup	KDM6B, LOC121587574	Duplication (splice donor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3255191	NM_001348716.2(KDM6B):c.1084G>C (p.Glu362Gln)	KDM6B (E362Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3254678	NM_001348716.2(KDM6B):c.4172A>G (p.Gln1391Arg)	KDM6B, LOC121587574 (Q1391R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 3254676	NM_001348716.2(KDM6B):c.1315_1324del (p.Gly439fs)	KDM6B (G439fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
Select item 3253465	NM_001348716.2(KDM6B):c.2626G>C (p.Gly876Arg)	KDM6B (G876R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253346	NM_001348716.2(KDM6B):c.3322A>T (p.Ile1108Phe)	KDM6B (I1108F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251100	NM_001348716.2(KDM6B):c.2278_2336del (p.Thr760fs)	KDM6B (T760fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3250696	NM_001348716.2(KDM6B):c.4755C>T (p.Ile1585=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250695	NM_001348716.2(KDM6B):c.1015C>A (p.Pro339Thr)	KDM6B (P339T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +209 more	Duplication	not provided	GUncertain significance
Select item 3235848	NM_001348716.2(KDM6B):c.4472A>G (p.Tyr1491Cys)	KDM6B, LOC121587574 (Y1491C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 3235777	NM_001348716.2(KDM6B):c.263G>A (p.Gly88Glu)	KDM6B (G88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235767	NM_001348716.2(KDM6B):c.2564C>G (p.Pro855Arg)	KDM6B (P855R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235717	NM_001348716.2(KDM6B):c.2551A>G (p.Thr851Ala)	KDM6B (T851A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235162	NM_001348716.2(KDM6B):c.1542_1554dup (p.Leu519fs)	KDM6B (L519fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 3233518	NM_001348716.2(KDM6B):c.1586C>A (p.Pro529Gln)	KDM6B (P529Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113904	NM_001348716.2(KDM6B):c.964G>A (p.Ala322Thr)	KDM6B (A322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113903	NM_001348716.2(KDM6B):c.947C>T (p.Pro316Leu)	KDM6B (P316L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113902	NM_001348716.2(KDM6B):c.880C>T (p.Arg294Cys)	KDM6B (R294C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113901	NM_001348716.2(KDM6B):c.5A>G (p.His2Arg)	KDM6B (H2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113899	NM_001348716.2(KDM6B):c.542A>C (p.His181Pro)	KDM6B (H181P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113897	NM_001348716.2(KDM6B):c.4268C>T (p.Ala1423Val)	LOC121587574, KDM6B (A1423V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113896	NM_001348716.2(KDM6B):c.3737G>A (p.Arg1246His)	KDM6B, LOC121587574 (R1246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3113895	NM_001348716.2(KDM6B):c.3376C>T (p.Arg1126Trp)	KDM6B (R1126W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113894	NM_001348716.2(KDM6B):c.3224G>A (p.Arg1075Gln)	KDM6B (R1075Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113893	NM_001348716.2(KDM6B):c.3044G>A (p.Arg1015His)	KDM6B (R1015H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113892	NM_001348716.2(KDM6B):c.2903T>G (p.Val968Gly)	KDM6B (V968G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113891	NM_001348716.2(KDM6B):c.2674C>A (p.Pro892Thr)	KDM6B (P892T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113890	NM_001348716.2(KDM6B):c.2456G>A (p.Arg819Gln)	KDM6B (R819Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113889	NM_001348716.2(KDM6B):c.1984_1990dup (p.Pro664fs)	KDM6B (P664fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3113888	NM_001348716.2(KDM6B):c.184C>T (p.Pro62Ser)	KDM6B (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113887	NM_001348716.2(KDM6B):c.1756C>T (p.Arg586Trp)	KDM6B (R586W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113886	NM_001348716.2(KDM6B):c.164C>G (p.Pro55Arg)	KDM6B (P55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113885	NM_001348716.2(KDM6B):c.1562A>C (p.His521Pro)	KDM6B (H521P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113884	NM_001348716.2(KDM6B):c.1544C>T (p.Ala515Val)	KDM6B (A515V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113883	NM_001348716.2(KDM6B):c.1498A>T (p.Ile500Phe)	KDM6B (I500F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113882	NM_001348716.2(KDM6B):c.1423C>A (p.Arg475Ser)	KDM6B (R475S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3113881	NM_001348716.2(KDM6B):c.1388C>G (p.Pro463Arg)	KDM6B (P463R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113880	NM_001348716.2(KDM6B):c.1324G>A (p.Ala442Thr)	KDM6B (A442T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067306	NM_001348716.2(KDM6B):c.786A>C (p.Pro262=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067246	NM_001348716.2(KDM6B):c.1991C>T (p.Pro664Leu)	KDM6B (P664L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3061919	NM_001348716.2(KDM6B):c.4556G>A (p.Trp1519Ter)	KDM6B, LOC121587574 (W1519*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3060545	NM_001348716.2(KDM6B):c.1782C>A (p.Pro594=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GBenign
Select item 3056144	NM_001348716.2(KDM6B):c.777A>C (p.Pro259=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder +1 more	GLikely benign
Select item 3055924	NM_001348716.2(KDM6B):c.789A>C (p.Pro263=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3055676	NM_001348716.2(KDM6B):c.780A>C (p.Pro260=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3055274	NM_001348716.2(KDM6B):c.783A>C (p.Pro261=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3052582	NM_001348716.2(KDM6B):c.138A>G (p.Arg46=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3051834	NM_001348716.2(KDM6B):c.2539G>A (p.Ala847Thr)	KDM6B (A847T)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GBenign
Select item 3051772	NM_001348716.2(KDM6B):c.1529G>A (p.Gly510Glu)	KDM6B (G510E)	Single nucleotide variant (missense variant)	KDM6B-related disorder +1 more	GLikely benign
Select item 3050698	NM_001348716.2(KDM6B):c.2919G>A (p.Lys973=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3049542	NM_001348716.2(KDM6B):c.41G>A (p.Arg14Gln)	KDM6B (R14Q)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GLikely benign
Select item 3049357	NM_001348716.2(KDM6B):c.910-6C>T	KDM6B	Single nucleotide variant (intron variant)	KDM6B-related disorder	GLikely benign
Select item 3048164	NM_001348716.2(KDM6B):c.2427C>T (p.Ser809=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3047473	NM_001348716.2(KDM6B):c.3441-4G>A	KDM6B	Single nucleotide variant (intron variant)	KDM6B-related disorder	GLikely benign
Select item 3047244	NM_001348716.2(KDM6B):c.2822CAG[1] (p.Ala942del)	KDM6B (A942del)	Microsatellite (inframe deletion)	KDM6B-related disorder	GLikely benign
Select item 3046974	NM_001348716.2(KDM6B):c.4245G>A (p.Glu1415=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3046960	NM_001348716.2(KDM6B):c.3726C>T (p.Thr1242=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3046901	NM_001348716.2(KDM6B):c.2963G>T (p.Arg988Leu)	KDM6B (R988L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3046613	NM_001348716.2(KDM6B):c.3432C>T (p.Arg1144=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3046417	NM_001348716.2(KDM6B):c.993G>A (p.Pro331=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3044482	NM_001348716.2(KDM6B):c.2690A>C (p.Gln897Pro)	KDM6B (Q897P)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GLikely benign
Select item 3043453	NM_001348716.2(KDM6B):c.2889C>T (p.Gly963=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3041708	NM_001348716.2(KDM6B):c.2253CAC[13] (p.Thr762_Ala763insThrThr)	KDM6B	Microsatellite (inframe insertion)	KDM6B-related disorder	GLikely benign
Select item 3038016	NM_001348716.2(KDM6B):c.756A>C (p.Pro252=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3037958	NM_001348716.2(KDM6B):c.2253CAC[12] (p.Thr762_Ala763insThr)	KDM6B	Microsatellite (inframe insertion)	KDM6B-related disorder	GBenign
Select item 3037897	NM_001348716.2(KDM6B):c.753ACC[17] (p.Pro264_Leu265insProProProPro)	KDM6B	Microsatellite (inframe insertion)	KDM6B-related disorder	GLikely benign
Select item 3036653	NM_001348716.2(KDM6B):c.4929A>T (p.Arg1643=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3035106	NM_001348716.2(KDM6B):c.2927AGAAGGAGCATC[1] (p.976QKEH[1])	KDM6B	Microsatellite (inframe deletion)	KDM6B-related disorder	GBenign
Select item 3034943	NM_001348716.2(KDM6B):c.2740C>T (p.Leu914=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3033383	NM_001348716.2(KDM6B):c.3117C>T (p.Gly1039=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3033049	NM_001348716.2(KDM6B):c.2197C>T (p.Gln733Ter)	KDM6B (Q733*)	Single nucleotide variant (nonsense)	KDM6B-related disorder	GLikely pathogenic
Select item 3032223	NM_001348716.2(KDM6B):c.2763C>T (p.Cys921=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3032157	NM_001348716.2(KDM6B):c.3921C>G (p.Asp1307Glu)	KDM6B, LOC121587574 (D1307E)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GLikely benign
Select item 3031871	NM_001348716.2(KDM6B):c.1323G>A (p.Ser441=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3030408	NM_001348716.2(KDM6B):c.3913G>A (p.Glu1305Lys)	KDM6B, LOC121587574 (E1305K)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 3029266	NM_001348716.2(KDM6B):c.3043C>T (p.Arg1015Cys)	KDM6B (R1015C)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance

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