ClinVar for Gene (Select 23135) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378404	NM_001348716.2(KDM6B):c.2041C>T (p.Gln681Ter)	KDM6B (Q681*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
Select item 3377605	NM_001348716.2(KDM6B):c.3091C>T (p.Arg1031Cys)	KDM6B (R1031C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3377255	NM_001348716.2(KDM6B):c.4550dup (p.Ser1518fs)	KDM6B, LOC121587574 (S1518fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
Select item 3376228	NM_001348716.2(KDM6B):c.80C>T (p.Ala27Val)	KDM6B (A27V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3375347	NM_001348716.2(KDM6B):c.550-5C>T	KDM6B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3375150	NM_001348716.2(KDM6B):c.2829G>T (p.Glu943Asp)	KDM6B (E943D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373209	NM_001348716.2(KDM6B):c.4459C>T (p.Pro1487Ser)	KDM6B, LOC121587574 (P1487S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372944	NM_001348716.2(KDM6B):c.3546C>A (p.Asn1182Lys)	KDM6B (N1182K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372188	NM_001348716.2(KDM6B):c.497G>A (p.Arg166Gln)	KDM6B (R166Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372135	NM_001348716.2(KDM6B):c.3634A>G (p.Ile1212Val)	KDM6B (I1212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371941	NM_001348716.2(KDM6B):c.4475A>G (p.Gln1492Arg)	KDM6B, LOC121587574 (Q1492R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371466	NM_001348716.2(KDM6B):c.3550C>T (p.Pro1184Ser)	KDM6B (P1184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371443	NM_001348716.2(KDM6B):c.1570G>A (p.Gly524Ser)	KDM6B (G524S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371333	NM_001348716.2(KDM6B):c.4783C>T (p.Arg1595Cys)	KDM6B (R1595C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370541	NM_001348716.2(KDM6B):c.3612C>G (p.Phe1204Leu)	KDM6B (F1204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370043	NM_001348716.2(KDM6B):c.2330C>T (p.Pro777Leu)	KDM6B (P777L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GUncertain significance
Select item 3369007	NM_001348716.2(KDM6B):c.4794C>G (p.Tyr1598Ter)	KDM6B (Y1598*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368363	NM_001348716.2(KDM6B):c.1674T>G (p.Ser558Arg)	KDM6B (S558R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364798	NM_001348716.2(KDM6B):c.3117_3119del (p.Gly1040del)	KDM6B (G1040del)	Deletion	not provided	GUncertain significance
Select item 3363366	NM_001348716.2(KDM6B):c.4120A>T (p.Asn1374Tyr)	KDM6B, LOC121587574 (N1374Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362279	NM_001348716.2(KDM6B):c.1556T>A (p.Leu519His)	KDM6B (L519H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3362075	NM_001348716.2(KDM6B):c.4908+26_4908+28del	KDM6B (Q1645del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3361706	NM_001348716.2(KDM6B):c.4908+53dup	KDM6B (G1655fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3361617	NM_001348716.2(KDM6B):c.1707G>A (p.Val569=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3361559	NM_001348716.2(KDM6B):c.3336T>A (p.Ser1112Arg)	KDM6B (S1112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361149	NM_001348716.2(KDM6B):c.1142_1147dup (p.Cys382_Val383insAlaCys)	KDM6B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3359833	NM_001348716.2(KDM6B):c.4487C>A (p.Ala1496Asp)	KDM6B (A1496D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357997	NM_001348716.2(KDM6B):c.753ACC[18] (p.Pro264_Leu265insProProProProPro)	KDM6B	Microsatellite (inframe_insertion)	KDM6B-related disorder	GUncertain significance
Select item 3352316	NM_001348716.2(KDM6B):c.712-4C>A	KDM6B	Single nucleotide variant (intron variant)	KDM6B-related disorder	GLikely benign
Select item 3348980	NM_001348716.2(KDM6B):c.4658G>A (p.Ser1553Asn)	KDM6B (S1553N)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 3347676	NM_001348716.2(KDM6B):c.4574T>A (p.Val1525Asp)	KDM6B, LOC121587574 (V1525D)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 3344149	NM_001348716.2(KDM6B):c.3425T>A (p.Val1142Asp)	KDM6B (V1142D)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 3341819	NM_001348716.2(KDM6B):c.2623G>A (p.Gly875Ser)	KDM6B (G875S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	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	FBXO39, FGF11 +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)	not provided	GLikely benign

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