ClinVar for MedGen (Select 208639) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065513	NM_024757.5(EHMT1):c.3036-1G>A	EHMT1	Single nucleotide variant (splice acceptor variant)	Kleefstra syndrome 1	GLikely pathogenic
Select item 3065281	NM_024757.5(EHMT1):c.824-2A>G	EHMT1	Single nucleotide variant (splice acceptor variant +1 more)	Kleefstra syndrome 1	GUncertain significance
Select item 3064078	NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter)	EHMT1 (Q983* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3061941	NM_024757.5(EHMT1):c.3180+1G>A	EHMT1	Single nucleotide variant (splice donor variant)	Kleefstra syndrome 1	GLikely pathogenic
Select item 3023315	NM_024757.5(EHMT1):c.2383-18G>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 3022971	NM_024757.5(EHMT1):c.85+18C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 3022253	NM_024757.5(EHMT1):c.482A>C (p.Lys161Thr)	EHMT1 (K130T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 3020834	NM_024757.5(EHMT1):c.2076G>C (p.Val692=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 3020464	NM_024757.5(EHMT1):c.1792-9C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 3016227	NM_024757.5(EHMT1):c.2866G>A (p.Val956Ile)	EHMT1 (V949I +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3014062	NM_024757.5(EHMT1):c.1540C>G (p.Leu514Val)	EHMT1, LOC130003148 (L483V +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 3011909	NM_024757.5(EHMT1):c.1104C>G (p.Ala368=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 3011841	NM_024757.5(EHMT1):c.219T>A (p.Thr73=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 3009056	NM_024757.5(EHMT1):c.3064C>T (p.Pro1022Ser)	EHMT1 (P1015S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 3007827	NM_024757.5(EHMT1):c.824-5T>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3007495	NM_024757.5(EHMT1):c.3573C>T (p.Phe1191=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 3007024	NM_024757.5(EHMT1):c.981+10G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 3003912	NM_024757.5(EHMT1):c.3717-18G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 3003251	NM_024757.5(EHMT1):c.3540+16G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 3001698	NM_024757.5(EHMT1):c.2822C>T (p.Ser941Leu)	EHMT1 (S934L +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 3000688	NM_024757.5(EHMT1):c.3165T>C (p.Asn1055=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2997463	NM_024757.5(EHMT1):c.1080C>T (p.Asp360=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GBenign
Select item 2996915	NM_024757.5(EHMT1):c.3840G>A (p.Glu1280=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2996894	NM_024757.5(EHMT1):c.982-13G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2995686	NM_024757.5(EHMT1):c.21+15del	EHMT1, LOC130003135	Deletion (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2994630	NM_024757.5(EHMT1):c.824-16T>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2992842	NM_024757.5(EHMT1):c.1102G>A (p.Ala368Thr)	EHMT1 (A337T +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2989761	NM_024757.5(EHMT1):c.1918G>A (p.Val640Met)	EHMT1 (V633M +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2987697	NM_024757.5(EHMT1):c.1106C>T (p.Ala369Val)	EHMT1 (A338V +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2985220	NM_024757.5(EHMT1):c.981+19T>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2985003	NM_024757.5(EHMT1):c.18C>T (p.Ala6=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2981679	NM_024757.5(EHMT1):c.3770G>A (p.Arg1257His)	EHMT1 (R1250H +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2979739	NM_024757.5(EHMT1):c.3177G>A (p.Leu1059=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2979669	NM_024757.5(EHMT1):c.3462-13G>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2979586	NM_024757.5(EHMT1):c.1811A>G (p.Gln604Arg)	EHMT1 (Q573R +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2975106	NM_024757.5(EHMT1):c.3219C>T (p.Cys1073=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GBenign
Select item 2974796	NM_024757.5(EHMT1):c.230C>T (p.Ala77Val)	EHMT1 (A77V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2974513	NM_024757.5(EHMT1):c.187G>A (p.Ala63Thr)	EHMT1 (A32T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2973367	NM_024757.5(EHMT1):c.2607+11C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2971705	NM_024757.5(EHMT1):c.54T>C (p.Asp18=)	EHMT1	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2967735	NM_024757.5(EHMT1):c.1370-8A>G	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2967266	NM_024757.5(EHMT1):c.3388C>G (p.Leu1130Val)	EHMT1 (L1130V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2964779	NM_024757.5(EHMT1):c.389C>T (p.Pro130Leu)	EHMT1 (P130L +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2964295	NM_024757.5(EHMT1):c.1005C>T (p.Ser335=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2963822	NM_024757.5(EHMT1):c.2800G>A (p.Ala934Thr)	EHMT1 (A927T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2962536	NM_024757.5(EHMT1):c.2563G>A (p.Val855Ile)	EHMT1 (V855I +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2960346	NM_024757.5(EHMT1):c.372A>C (p.Gly124=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2957238	NM_024757.5(EHMT1):c.2506-3C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2920504	NM_024757.5(EHMT1):c.1170+15C>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2919836	NM_024757.5(EHMT1):c.190A>G (p.Ser64Gly)	EHMT1 (S33G +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2918674	NM_024757.5(EHMT1):c.3156C>T (p.Ile1052=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GBenign
Select item 2918440	NM_024757.5(EHMT1):c.21+10G>A	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2917499	NM_024757.5(EHMT1):c.1647+12T>C	EHMT1	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2915322	NM_024757.5(EHMT1):c.239A>G (p.Asn80Ser)	EHMT1 (N80S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2915081	NM_024757.5(EHMT1):c.1878T>C (p.Tyr626=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GBenign
Select item 2914303	NM_024757.5(EHMT1):c.3717-7T>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2914185	NM_024757.5(EHMT1):c.1870G>A (p.Ala624Thr)	EHMT1 (A617T +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2907394	NM_024757.5(EHMT1):c.1253C>T (p.Ser418Leu)	EHMT1 (S387L +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2907037	NM_024757.5(EHMT1):c.619A>G (p.Met207Val)	EHMT1 (M176V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2906214	NM_024757.5(EHMT1):c.2847G>A (p.Glu949=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2905992	NM_024757.5(EHMT1):c.1455C>T (p.Asp485=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2898933	NM_024757.5(EHMT1):c.2268C>T (p.Leu756=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2897814	NM_024757.5(EHMT1):c.167G>T (p.Gly56Val)	EHMT1 (G56V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2896912	NM_024757.5(EHMT1):c.1589G>A (p.Arg530Gln)	EHMT1, LOC130003148 (R499Q +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2895816	NM_024757.5(EHMT1):c.3702C>T (p.Ala1234=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2892330	NM_024757.5(EHMT1):c.2019-6C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2890018	NM_024757.5(EHMT1):c.360C>T (p.Ile120=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2889732	NM_024757.5(EHMT1):c.3432G>A (p.Gln1144=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2885454	NM_024757.5(EHMT1):c.2012C>T (p.Thr671Met)	EHMT1 (T664M +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2884642	NM_024757.5(EHMT1):c.1373C>G (p.Ser458Cys)	EHMT1 (S427C +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2883616	NM_024757.5(EHMT1):c.1354C>T (p.Pro452Ser)	EHMT1 (P421S +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2883465	NM_024757.5(EHMT1):c.925C>G (p.Gln309Glu)	EHMT1 (Q302E +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2882502	NM_024757.5(EHMT1):c.2019-17G>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2881031	NM_024757.5(EHMT1):c.2402_2403delinsTG (p.Thr801Met)	EHMT1 (T770M +2 more)	Indel (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2878254	NM_024757.5(EHMT1):c.3666C>T (p.Pro1222=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2876817	NM_024757.5(EHMT1):c.3717-5C>G	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2875538	NM_024757.5(EHMT1):c.1288A>G (p.Lys430Glu)	EHMT1 (K399E +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2875184	NM_024757.5(EHMT1):c.6C>T (p.Ala2=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2870695	NM_024757.5(EHMT1):c.2868-7C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2870581	NM_024757.5(EHMT1):c.2712+20C>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2870569	NM_024757.5(EHMT1):c.1171-14G>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2866325	NM_024757.5(EHMT1):c.3240G>A (p.Met1080Ile)	EHMT1 (M1073I +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2864567	NM_024757.5(EHMT1):c.989A>G (p.Lys330Arg)	EHMT1 (K330R +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2864101	NM_024757.5(EHMT1):c.127G>A (p.Ala43Thr)	EHMT1 (A43T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2862858	NM_024757.5(EHMT1):c.1540C>T (p.Leu514Phe)	EHMT1, LOC130003148 (L507F +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2860468	NM_024757.5(EHMT1):c.3434A>G (p.Asp1145Gly)	EHMT1 (D1145G +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2860392	NM_024757.5(EHMT1):c.556A>G (p.Thr186Ala)	EHMT1 (T186A +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2859648	NM_024757.5(EHMT1):c.3892dup (p.Leu1298fs)	EHMT1 (L1298fs +1 more)	Duplication (frameshift variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2858666	NM_024757.5(EHMT1):c.2867+9A>G	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2858632	NM_024757.5(EHMT1):c.305A>T (p.Glu102Val)	EHMT1 (E102V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GLikely benign
Select item 2857671	NM_024757.5(EHMT1):c.3181-16G>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2857649	NM_024757.5(EHMT1):c.3181-16del	EHMT1	Deletion (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2857160	NM_024757.5(EHMT1):c.3354C>G (p.Arg1118=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2855744	NM_024757.5(EHMT1):c.323A>G (p.His108Arg)	EHMT1 (H77R +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2853634	NM_024757.5(EHMT1):c.2795T>C (p.Leu932Pro)	EHMT1 (L932P +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GBenign
Select item 2853355	NM_024757.5(EHMT1):c.1065G>T (p.Glu355Asp)	EHMT1 (E324D +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GBenign
Select item 2851010	NM_024757.5(EHMT1):c.2664C>G (p.Leu888=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2850332	NM_024757.5(EHMT1):c.1248+13G>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2850293	NM_024757.5(EHMT1):c.872G>C (p.Arg291Pro)	EHMT1 (R284P +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2849330	NM_024757.5(EHMT1):c.823+14G>T	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign

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