ClinVar for Gene (Select 7403) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380740	NM_001291415.2(KDM6A):c.3361G>T (p.Asp1121Tyr)	KDM6A (D1024Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373732	NM_001291415.2(KDM6A):c.3017C>T (p.Pro1006Leu)	KDM6A (P1006L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370263	NM_001291415.2(KDM6A):c.2755A>G (p.Lys919Glu)	KDM6A (K571E +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369655	NM_001291415.2(KDM6A):c.1285G>A (p.Ala429Thr)	KDM6A (A429T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369343	NM_001291415.2(KDM6A):c.2294C>A (p.Thr765Asn)	KDM6A (T417N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369289	NM_001291415.2(KDM6A):c.803A>G (p.Tyr268Cys)	KDM6A (Y17C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367625	NM_001291415.2(KDM6A):c.2060A>C (p.Gln687Pro)	KDM6A (Q339P +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367468	NM_001291415.2(KDM6A):c.1904G>A (p.Arg635Lys)	KDM6A (R287K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367259	NM_001291415.2(KDM6A):c.947C>G (p.Ala316Gly)	KDM6A (A316G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366131	NM_001291415.2(KDM6A):c.3233A>G (p.Asn1078Ser)	KDM6A (N1026S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365892	NM_001291415.2(KDM6A):c.3863A>G (p.Asn1288Ser)	KDM6A (N1157S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364988	NM_001291415.2(KDM6A):c.1706A>T (p.Gln569Leu)	KDM6A (Q221L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364974	NM_001291415.2(KDM6A):c.520G>A (p.Gly174Arg)	KDM6A (G174R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 3364929	NM_001291415.2(KDM6A):c.164G>T (p.Arg55Leu)	KDM6A, LOC130068183 (R55L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364483	NM_001291415.2(KDM6A):c.703G>C (p.Glu235Gln)	KDM6A (E235Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363979	NM_001291415.2(KDM6A):c.638A>G (p.His213Arg)	KDM6A (H213R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363293	NM_001291415.2(KDM6A):c.932T>C (p.Ile311Thr)	KDM6A (I311T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361793	NM_001291415.2(KDM6A):c.2990T>C (p.Leu997Ser)	KDM6A (L649S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361229	NM_001291415.2(KDM6A):c.2123G>C (p.Gly708Ala)	KDM6A (G360A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360995	NM_001291415.2(KDM6A):c.3274G>A (p.Ala1092Thr)	KDM6A (A1006T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360589	NM_001291415.2(KDM6A):c.3500C>T (p.Ala1167Val)	KDM6A (A1036V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360323	NM_001291415.2(KDM6A):c.4121G>A (p.Arg1374Gln)	KDM6A (R1026Q +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360135	NM_001291415.2(KDM6A):c.4337C>T (p.Pro1446Leu)	KDM6A (P1098L +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356674	NM_001291415.2(KDM6A):c.2233G>A (p.Gly745Arg)	KDM6A (G397R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356661	NM_001291415.2(KDM6A):c.2989-10A>G	KDM6A	Single nucleotide variant (intron variant)	KDM6A-related disorder	GLikely benign
Select item 3352588	NM_001291415.2(KDM6A):c.2859-6_2859-5dup	KDM6A	Duplication (intron variant)	KDM6A-related disorder	GLikely benign
Select item 3348990	NM_001291415.2(KDM6A):c.1318A>G (p.Thr440Ala)	KDM6A (T440A)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 3348889	NM_001291415.2(KDM6A):c.1876G>A (p.Ala626Thr)	KDM6A (A278T +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 3347831	NM_001291415.2(KDM6A):c.624_629del (p.Gln208_Phe209del)	KDM6A	Deletion (inframe_deletion +2 more)	KDM6A-related disorder	GUncertain significance
Select item 3347464	NM_001291415.2(KDM6A):c.3800G>A (p.Gly1267Glu)	KDM6A (G1136E +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GLikely pathogenic
Select item 3347270	NM_001291415.2(KDM6A):c.3371G>A (p.Gly1124Glu)	KDM6A (G1027E +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 3345306	NM_001291415.2(KDM6A):c.2605del (p.Ser869fs)	KDM6A (S521fs +7 more)	Deletion (frameshift variant +1 more)	KDM6A-related disorder	GPathogenic
Select item 3343113	NM_001291415.2(KDM6A):c.946G>A (p.Ala316Thr)	KDM6A (A316T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342440	NM_001291415.2(KDM6A):c.2885A>C (p.Asn962Thr)	KDM6A (N614T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341469	NM_001291415.2(KDM6A):c.4194T>G (p.Asn1398Lys)	KDM6A (N1050K +13 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3341164	NM_001291415.2(KDM6A):c.3053C>T (p.Pro1018Leu)	KDM6A (P1018L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3340910	NM_001291415.2(KDM6A):c.2069A>C (p.Asn690Thr)	KDM6A (N342T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339944	NM_001291415.2(KDM6A):c.-10C>T	KDM6A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3338113	NM_001291415.2(KDM6A):c.737del (p.Leu246fs)	KDM6A (L246fs)	Deletion (frameshift variant +2 more)	Kabuki syndrome 2	GPathogenic
Select item 3337213	NM_001291415.2(KDM6A):c.3892+1G>T	KDM6A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3337212	NM_001291415.2(KDM6A):c.3239del (p.Ser1080fs)	KDM6A (S1028fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3287970	NM_001291415.2(KDM6A):c.4339C>G (p.Pro1447Ala)	KDM6A (P1395A +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287969	NM_001291415.2(KDM6A):c.2599G>A (p.Val867Ile)	KDM6A (V736I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287967	NM_001291415.2(KDM6A):c.2592T>G (p.Asp864Glu)	KDM6A (D864E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287966	NM_001291415.2(KDM6A):c.2383A>G (p.Ser795Gly)	KDM6A (S709G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287965	NM_001291415.2(KDM6A):c.2356A>T (p.Thr786Ser)	KDM6A (T438S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287964	NM_001291415.2(KDM6A):c.2332A>G (p.Thr778Ala)	KDM6A (T430A +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287963	NM_001291415.2(KDM6A):c.2330T>C (p.Leu777Ser)	KDM6A (L646S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3287962	NM_001291415.2(KDM6A):c.1955G>A (p.Gly652Glu)	KDM6A (G555E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287961	NM_001291415.2(KDM6A):c.1912G>A (p.Gly638Arg)	KDM6A (G541R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287960	NM_001291415.2(KDM6A):c.2435G>C (p.Cys812Ser)	KDM6A (C767S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287959	NM_001291415.2(KDM6A):c.2002A>T (p.Thr668Ser)	KDM6A (T571S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257856	NM_001291415.2(KDM6A):c.593dup (p.Asn198fs)	KDM6A (N198fs)	Duplication (frameshift variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3257763	NM_001291415.2(KDM6A):c.4073T>A (p.Leu1358Ter)	KDM6A (L1358* +13 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	OLikely oncogenic
Select item 3257208	NM_001291415.2(KDM6A):c.1581+1G>A	KDM6A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3255012	NM_001291415.2(KDM6A):c.2701A>T (p.Ser901Cys)	KDM6A (S553C +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3254796	NM_001291415.2(KDM6A):c.1636A>T (p.Met546Leu)	KDM6A (M198L +4 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3253194	NM_001291415.2(KDM6A):c.4358C>A (p.Ser1453Tyr)	KDM6A (S1105Y +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253163	NM_001291415.2(KDM6A):c.2408T>A (p.Val803Asp)	KDM6A (V455D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253141	NM_001291415.2(KDM6A):c.443+6T>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3253025	NM_001291415.2(KDM6A):c.3323A>G (p.His1108Arg)	KDM6A (H1011R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252359	NM_001291415.2(KDM6A):c.1079C>T (p.Thr360Ile)	KDM6A (T109I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252169	NM_001291415.2(KDM6A):c.2926C>T (p.Pro976Ser)	KDM6A (P628S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3245483	NC_000023.10:g.(?_44732798)_(44950129_?)dup	KDM6A	Duplication	Kabuki syndrome 2	GUncertain significance
Select item 3245472	NC_000023.10:g.(?_44732798)_(44945244_?)dup	KDM6A	Duplication	Kabuki syndrome 2	GUncertain significance
Select item 3245461	NC_000023.10:g.(?_44879835)_(44896954_?)del	KDM6A	Deletion	Kabuki syndrome 2	GPathogenic
Select item 3245449	NC_000023.10:g.(?_44935922)_(44950129_?)del	KDM6A	Deletion	Kabuki syndrome 2	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239074	NM_001291415.2(KDM6A):c.1908G>A (p.Thr636=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3235792	NM_001291415.2(KDM6A):c.2276del (p.Gly759fs)	KDM6A (G411fs +7 more)	Deletion (frameshift variant +1 more)	Kabuki syndrome 2	GPathogenic
Select item 3113879	NM_001291415.2(KDM6A):c.814T>C (p.Tyr272His)	KDM6A (Y272H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113878	NM_001291415.2(KDM6A):c.811C>G (p.Gln271Glu)	KDM6A (Q20E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113877	NM_001291415.2(KDM6A):c.3695T>C (p.Phe1232Ser)	KDM6A (F1180S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113876	NM_001291415.2(KDM6A):c.3691G>A (p.Asp1231Asn)	KDM6A (D1134N +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113875	NM_001291415.2(KDM6A):c.2758A>G (p.Thr920Ala)	KDM6A (T823A +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113874	NM_001291415.2(KDM6A):c.199G>T (p.Ala67Ser)	KDM6A (A67S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3113873	NM_001291415.2(KDM6A):c.101G>C (p.Ser34Thr)	KDM6A (S34T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3075972	NM_001291415.2(KDM6A):c.385-6049_385-6047del	KDM6A	Deletion (intron variant)	Kabuki syndrome 2	GLikely pathogenic
Select item 3067709	NM_001291415.2(KDM6A):c.2734G>A (p.Glu912Lys)	KDM6A (E564K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3062564	GRCh37/hg19 Xp11.3(chrX:44815967-45034073)	DIPK2B, KDM6A	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062475	GRCh37/hg19 Xp11.3(chrX:44815967-45028675)	DIPK2B, KDM6A	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3061630	NM_001291415.2(KDM6A):c.1039T>C (p.Leu347=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	KDM6A-related disorder	GLikely benign
Select item 3061407	NM_001291415.2(KDM6A):c.3705-9T>G	KDM6A	Single nucleotide variant (intron variant)	KDM6A-related disorder	GLikely benign
Select item 3054309	NM_001291415.2(KDM6A):c.1581+7A>G	KDM6A	Single nucleotide variant (intron variant)	KDM6A-related disorder	GLikely benign
Select item 3036614	NM_001291415.2(KDM6A):c.3893-7_3893-6dup	KDM6A	Duplication (intron variant)	KDM6A-related disorder	GLikely benign
Select item 3032826	NM_001291415.2(KDM6A):c.1384C>T (p.Pro462Ser)	KDM6A (P417S +1 more)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GLikely benign
Select item 3029130	NM_001291415.2(KDM6A):c.36C>G (p.Ala12=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	KDM6A-related disorder	GLikely benign
Select item 3027079	NM_001291415.2(KDM6A):c.1333T>C (p.Cys445Arg)	KDM6A (C400R +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 3025966	NM_001291415.2(KDM6A):c.1598G>A (p.Arg533His)	KDM6A (R185H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017924	NM_001291415.2(KDM6A):c.3541A>G (p.Met1181Val)	KDM6A (M1050V +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3017386	NM_001291415.2(KDM6A):c.3094+13T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 3016693	NM_001291415.2(KDM6A):c.2389G>A (p.Glu797Lys)	KDM6A (E666K +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3015719	NM_001291415.2(KDM6A):c.359A>G (p.Tyr120Cys)	KDM6A (Y120C)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 3012799	NM_001291415.2(KDM6A):c.887G>A (p.Ser296Asn)	KDM6A (S296N +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3012511	NM_001291415.2(KDM6A):c.1486-18T>A	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 3009927	NM_001291415.2(KDM6A):c.3589+10A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 3009059	NM_001291415.2(KDM6A):c.3907T>A (p.Leu1303Met)	KDM6A (L1258M +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 3005831	NM_001291415.2(KDM6A):c.1581+20C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign

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