ClinVar for MedGen (Select 477126) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 663

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075972	NM_001291415.2(KDM6A):c.385-6049_385-6047del	KDM6A	Deletion (intron variant)	Kabuki syndrome 2	GLikely pathogenic
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	GUncertain significance
Select item 3005831	NM_001291415.2(KDM6A):c.1581+20C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 3005796	NM_001291415.2(KDM6A):c.1811G>C (p.Ser604Thr)	KDM6A (S507T +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3002404	NM_001291415.2(KDM6A):c.2552A>G (p.Lys851Arg)	KDM6A (K503R +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 3001620	NM_001291415.2(KDM6A):c.2640T>C (p.Pro880=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 3000935	NM_001291415.2(KDM6A):c.2962T>C (p.Leu988=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 3000851	NM_001291415.2(KDM6A):c.4034+10_4034+11del	KDM6A	Deletion (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2999391	NM_001291415.2(KDM6A):c.3584C>T (p.Thr1195Ile)	KDM6A (T1161I +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2998871	NM_001291415.2(KDM6A):c.4260C>T (p.Asn1420=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2998511	NM_001291415.2(KDM6A):c.1659G>T (p.Gln553His)	KDM6A (Q456H +4 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2997951	NM_001291415.2(KDM6A):c.1719T>C (p.Thr573=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2996450	NM_001291415.2(KDM6A):c.3892+7T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2995767	NM_001291415.2(KDM6A):c.54C>A (p.Phe18Leu)	KDM6A (F18L)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2993139	NM_001291415.2(KDM6A):c.2235G>A (p.Gly745=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2992865	NM_001291415.2(KDM6A):c.974+25_974+27del	KDM6A	Microsatellite (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2989778	NM_001291415.2(KDM6A):c.161+17C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2986944	NM_001291415.2(KDM6A):c.3365+16T>A	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2985874	NM_001291415.2(KDM6A):c.1507G>A (p.Gly503Ser)	KDM6A (G503S +4 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2985376	NM_001291415.2(KDM6A):c.1712G>A (p.Arg571Gln)	KDM6A (R526Q +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2980701	NM_001291415.2(KDM6A):c.2472A>G (p.Leu824=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2979119	NM_001291415.2(KDM6A):c.696G>T (p.Leu232Phe)	KDM6A (L232F)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2978963	NM_001291415.2(KDM6A):c.2720A>G (p.Asn907Ser)	KDM6A (N776S +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2977852	NM_001291415.2(KDM6A):c.3493G>A (p.Val1165Ile)	KDM6A (V1079I +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2976542	NM_001291415.2(KDM6A):c.655-15T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GBenign
Select item 2972650	NM_001291415.2(KDM6A):c.3380G>A (p.Arg1127Lys)	KDM6A (R1030K +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2958727	NM_001291415.2(KDM6A):c.876-13dup	KDM6A	Duplication (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2956860	NM_001291415.2(KDM6A):c.39_41dup (p.Ala17_Phe18insAla)	KDM6A	Duplication (inframe_insertion +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2916014	NM_001291415.2(KDM6A):c.2988C>T (p.Tyr996=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2914187	NM_001291415.2(KDM6A):c.1599C>T (p.Arg533=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2913840	NM_001291415.2(KDM6A):c.2919A>G (p.Pro973=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2913313	NM_001291415.2(KDM6A):c.2815G>A (p.Val939Met)	KDM6A (V853M +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2913170	NM_001291415.2(KDM6A):c.2136C>G (p.Leu712=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2913027	NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	KDM6A-related condition +1 more	GBenign/Likely benign
Select item 2912568	NM_001291415.2(KDM6A):c.619+14A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2911374	NM_001291415.2(KDM6A):c.975T>C (p.Gly325=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2910742	NM_001291415.2(KDM6A):c.2350A>G (p.Arg784Gly)	KDM6A (R436G +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2909656	NM_001291415.2(KDM6A):c.876G>A (p.Arg292=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2908904	NM_001291415.2(KDM6A):c.1829T>C (p.Val610Ala)	KDM6A (V479A +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2907427	NM_001291415.2(KDM6A):c.2989-20C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2907415	NM_001291415.2(KDM6A):c.2526C>G (p.Asn842Lys)	KDM6A (N711K +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GBenign
Select item 2903738	NM_001291415.2(KDM6A):c.226-8A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2899801	NM_001291415.2(KDM6A):c.799A>G (p.Ser267Gly)	KDM6A (S16G +1 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related condition +1 more	GBenign/Likely benign
Select item 2893810	NM_001291415.2(KDM6A):c.4034+8T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2891858	NM_001291415.2(KDM6A):c.565-10C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2889495	NM_001291415.2(KDM6A):c.334+11del	KDM6A	Deletion (intron variant)	Kabuki syndrome 2	GBenign
Select item 2888802	NM_001291415.2(KDM6A):c.1998A>T (p.Ala666=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2888779	NM_001291415.2(KDM6A):c.2345C>G (p.Thr782Arg)	KDM6A (T730R +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2885550	NM_001291415.2(KDM6A):c.660A>G (p.Lys220=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2882635	NM_001291415.2(KDM6A):c.774C>T (p.Leu258=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2882317	NM_001291415.2(KDM6A):c.875+16C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GBenign
Select item 2881784	NM_001291415.2(KDM6A):c.2667C>T (p.Thr889=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2879686	NM_001291415.2(KDM6A):c.2740T>C (p.Ser914Pro)	KDM6A (S869P +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2878811	NM_001291415.2(KDM6A):c.1160C>A (p.Thr387Asn)	KDM6A (T136N +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2878268	NM_001291415.2(KDM6A):c.2528A>G (p.Asn843Ser)	KDM6A (N495S +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2873654	NM_001291415.2(KDM6A):c.4333-15T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2869434	NM_001291415.2(KDM6A):c.2428G>A (p.Ala810Thr)	KDM6A (A462T +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2869010	NM_001291415.2(KDM6A):c.196G>A (p.Gly66Ser)	KDM6A (G66S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2861905	NM_001291415.2(KDM6A):c.2523T>C (p.Asn841=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2859633	NM_001291415.2(KDM6A):c.1194+4A>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GUncertain significance
Select item 2859595	NM_001291415.2(KDM6A):c.1195-14A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2859061	NM_001291415.2(KDM6A):c.3094+7C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2855016	NM_001291415.2(KDM6A):c.4152C>T (p.Ser1384=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2853844	NM_001291415.2(KDM6A):c.1896C>T (p.Ser632=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2852082	NM_001291415.2(KDM6A):c.3094+15A>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2849179	NM_001291415.2(KDM6A):c.3255T>C (p.Ala1085=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2845859	NM_001291415.2(KDM6A):c.2890A>G (p.Ser964Gly)	KDM6A (S867G +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2844232	NM_001291415.2(KDM6A):c.3277T>G (p.Ser1093Ala)	KDM6A (S1041A +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2844102	NM_001291415.2(KDM6A):c.3074T>C (p.Leu1025Pro)	KDM6A (L991P +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2842950	NM_001291415.2(KDM6A):c.1972A>G (p.Asn658Asp)	KDM6A (N310D +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2842572	NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val)	KDM6A, LOC130068183 (G51V)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2842257	NM_001291415.2(KDM6A):c.4110A>G (p.Ile1370Met)	KDM6A (I1022M +13 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2839789	NM_001291415.2(KDM6A):c.548A>G (p.Tyr183Cys)	KDM6A (Y183C)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2837551	NM_001291415.2(KDM6A):c.1151G>T (p.Cys384Phe)	KDM6A (C384F +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2837417	NM_001291415.2(KDM6A):c.4233A>C (p.Gln1411His)	KDM6A (Q1063H +13 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2837173	NM_001291415.2(KDM6A):c.4034+10_4034+11dup	KDM6A	Duplication (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2836530	NM_001291415.2(KDM6A):c.2957A>G (p.Asp986Gly)	KDM6A (D855G +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2836103	NM_001291415.2(KDM6A):c.3063A>C (p.Val1021=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2835727	NM_001291415.2(KDM6A):c.2421G>T (p.Thr807=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2834265	NM_001291415.2(KDM6A):c.2461T>C (p.Ser821Pro)	KDM6A (S821P +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2829931	NM_001291415.2(KDM6A):c.975-16_975-15del	KDM6A	Deletion (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2826792	NM_001291415.2(KDM6A):c.3315AAG[1] (p.Arg1106del)	KDM6A (R1061del +7 more)	Microsatellite (inframe_deletion +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2824309	NM_001291415.2(KDM6A):c.4329A>G (p.Thr1443=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2823606	NM_001291415.2(KDM6A):c.3301-3T>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GPathogenic
Select item 2822525	NM_001291415.2(KDM6A):c.2032A>G (p.Ser678Gly)	KDM6A (S330G +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2818656	NM_001291415.2(KDM6A):c.2595C>T (p.Asn865=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2818647	NM_001291415.2(KDM6A):c.2108C>T (p.Ser703Leu)	KDM6A (S617L +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GBenign
Select item 2818620	NM_001291415.2(KDM6A):c.1089A>G (p.Glu363=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2	GLikely benign
Select item 2818320	NM_001291415.2(KDM6A):c.3762A>C (p.Glu1254Asp)	KDM6A (E1157D +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2817714	NM_001291415.2(KDM6A):c.2488C>G (p.Pro830Ala)	KDM6A (P699A +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2812980	NM_001291415.2(KDM6A):c.1195G>A (p.Ala399Thr)	KDM6A (A399T)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2812804	NM_001291415.2(KDM6A):c.610A>G (p.Asn204Asp)	KDM6A (N204D)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2812616	NM_001291415.2(KDM6A):c.3440+17A>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign

<< First< Prev

Page of 7