Related gene-specific medical variations for Gene (Select 79813) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364148	NM_024757.5(EHMT1):c.2382+1735dup	LOC651337, EHMT1 (R804fs)	Duplication (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3363130	NM_024757.5(EHMT1):c.2552A>G (p.His851Arg)	EHMT1 (H844R +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3361540	NM_024757.5(EHMT1):c.73C>T (p.Leu25=)	EHMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3361240	NM_024757.5(EHMT1):c.1678T>G (p.Tyr560Asp)	EHMT1 (Y529D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361109	NM_024757.5(EHMT1):c.3689G>T (p.Arg1230Leu)	EHMT1 (R1223L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360476	NM_024757.5(EHMT1):c.443C>G (p.Pro148Arg)	EHMT1 (P117R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360332	NM_024757.5(EHMT1):c.1249-10G>A	EHMT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359418	NM_024757.5(EHMT1):c.1593G>T (p.Glu531Asp)	EHMT1 (E500D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359124	NM_024757.5(EHMT1):c.2359G>T (p.Asp787Tyr)	EHMT1 (D756Y +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3245172	NC_000009.11:g.(?_140637803)_(140652483_?)del	EHMT1	Deletion	Kleefstra syndrome 1	GUncertain significance
Select item 3245168	NC_000009.11:g.(?_140693245)_(140729405_?)del	EHMT1	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 3245167	NC_000009.11:g.(?_140622781)_(140623001_?)del	EHMT1	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 3245166	NC_000009.11:g.(?_140705893)_(140706087_?)del	EHMT1	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 3238731	GRCh38/hg38 9q34.3(chr9:137817439-137818138)	EHMT1	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238723	GRCh38/hg38 9q34.3(chr9:137834653-137837236)	EHMT1	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238687	GRCh38/hg38 9q34.3(chr9:137790847-137790971)	EHMT1	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3236912	NM_024757.5(EHMT1):c.3284A>G (p.Asn1095Ser)	EHMT1 (N1088S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GBenign
Select item 3236911	NM_024757.5(EHMT1):c.823G>A (p.Ala275Thr)	EHMT1 (A244T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GBenign
Select item 3236910	NM_024757.5(EHMT1):c.750A>C (p.Leu250Phe)	EHMT1 (L219F +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GBenign
Select item 3236909	NM_024757.5(EHMT1):c.945G>A (p.Met315Ile)	EHMT1 (M284I +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GBenign
Select item 3236908	NM_024757.5(EHMT1):c.3795C>G (p.His1265Gln)	EHMT1 (H1258Q +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3236907	NM_024757.5(EHMT1):c.3736T>C (p.Phe1246Leu)	EHMT1 (F1239L +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3236906	NM_024757.5(EHMT1):c.3612G>A (p.Glu1204=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3236905	NM_024757.5(EHMT1):c.3600C>G (p.Asn1200Lys)	EHMT1 (N1193K +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3236904	NM_024757.5(EHMT1):c.1791G>A (p.Ala597=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GUncertain significance
Select item 3236903	NM_024757.5(EHMT1):c.38_39insA (p.Glu14fs)	EHMT1 (E14fs)	Insertion (frameshift variant +1 more)	Kleefstra syndrome 1	GPathogenic
Select item 3236902	NM_024757.5(EHMT1):c.109delinsAT (p.Gly37fs)	EHMT1 (G37fs +1 more)	Indel (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236901	NM_024757.5(EHMT1):c.2732A>G (p.His911Arg)	EHMT1 (H904R +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236900	NM_024757.5(EHMT1):c.2273T>C (p.Leu758Pro)	EHMT1 (L727P +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236899	NM_024757.5(EHMT1):c.2675T>G (p.Leu892Arg)	EHMT1 (L885R +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236898	NM_024757.5(EHMT1):c.2264T>G (p.Leu755Arg)	EHMT1 (L724R +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236897	NM_024757.5(EHMT1):c.2333A>C (p.His778Pro)	EHMT1 (H747P +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236896	NM_024757.5(EHMT1):c.2873_2878del (p.Phe958_Leu959del)	EHMT1	Deletion (inframe_deletion)	Kleefstra syndrome 1	GPathogenic
Select item 3236895	NM_024757.5(EHMT1):c.3184T>G (p.Cys1062Gly)	EHMT1 (C1055G +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236894	NM_024757.5(EHMT1):c.2465T>G (p.Val822Gly)	EHMT1 (V791G +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236893	NM_024757.5(EHMT1):c.3581A>T (p.Asn1194Ile)	EHMT1 (N1187I +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236892	NM_024757.5(EHMT1):c.3203G>C (p.Cys1068Ser)	EHMT1 (C1061S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236891	NM_024757.5(EHMT1):c.2830C>T (p.His944Tyr)	EHMT1 (H937Y +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236890	NM_024757.5(EHMT1):c.2197A>T (p.Lys733Ter)	EHMT1 (K702* +2 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3236889	NM_024757.5(EHMT1):c.704_705dup (p.Glu236fs)	EHMT1 (E205fs +1 more)	Microsatellite (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236888	NM_024757.5(EHMT1):c.3577G>C (p.Gly1193Arg)	EHMT1 (G1186R +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236887	NM_024757.5(EHMT1):c.987_988del (p.Lys330fs)	EHMT1 (K299fs +2 more)	Microsatellite (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236886	NM_024757.5(EHMT1):c.1756C>T (p.Gln586Ter)	EHMT1 (Q555* +2 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3236885	NM_024757.5(EHMT1):c.3035+1G>A	EHMT1	Single nucleotide variant (splice donor variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236884	NM_024757.5(EHMT1):c.1769dup (p.Cys591fs)	EHMT1 (C560fs +2 more)	Duplication (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236883	NM_024757.5(EHMT1):c.3703_3704del (p.Gly1235fs)	EHMT1 (G1228fs +1 more)	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236882	NM_024757.5(EHMT1):c.2350G>A (p.Gly784Arg)	EHMT1 (G753R +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236881	NM_024757.5(EHMT1):c.2645_2646del (p.Glu882fs)	EHMT1 (E875fs +1 more)	Microsatellite (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236880	NM_024757.5(EHMT1):c.2276-2A>G	EHMT1	Single nucleotide variant (splice acceptor variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236879	NM_024757.5(EHMT1):c.2822C>A (p.Ser941Ter)	EHMT1 (S934* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3236878	NM_024757.5(EHMT1):c.3459C>A (p.Cys1153Ter)	EHMT1 (C1146* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3236877	NM_024757.5(EHMT1):c.3239_3258+9delinsCATGC	EHMT1	Indel (splice donor variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236876	NM_024757.5(EHMT1):c.2474_2475dup (p.Ile826fs)	EHMT1 (I795fs +2 more)	Duplication (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236875	NM_024757.5(EHMT1):c.2785_2788del (p.Lys929fs)	EHMT1 (K922fs +1 more)	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236874	NM_024757.5(EHMT1):c.2734T>C (p.Trp912Arg)	EHMT1 (W905R +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236873	NM_024757.5(EHMT1):c.1766del (p.Pro589fs)	EHMT1 (P558fs +2 more)	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236872	NM_024757.5(EHMT1):c.2636G>A (p.Trp879Ter)	EHMT1 (W872* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3236871	NM_024757.5(EHMT1):c.3259-2A>G	EHMT1	Single nucleotide variant (splice acceptor variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236870	NM_024757.5(EHMT1):c.2587C>T (p.Gln863Ter)	EHMT1 (Q856* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 3236869	NM_024757.5(EHMT1):c.2380del (p.Gln794fs)	EHMT1 (Q763fs +2 more)	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236868	NM_024757.5(EHMT1):c.244del (p.Gln82fs)	EHMT1 (Q51fs +1 more)	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236867	NM_024757.5(EHMT1):c.1968dup (p.Gln657fs)	EHMT1 (Q626fs +2 more)	Duplication (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236866	NM_024757.5(EHMT1):c.3461+5G>C	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236865	NM_024757.5(EHMT1):c.817_818del (p.Gln273fs)	EHMT1 (Q242fs +1 more)	Microsatellite (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236864	NM_024757.5(EHMT1):c.34_35insC (p.Arg12fs)	EHMT1 (R12fs)	Insertion (frameshift variant +1 more)	Kleefstra syndrome 1	GPathogenic
Select item 3236863	NM_024757.5(EHMT1):c.1923del (p.Thr641_Ile642insTer)	EHMT1	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3236862	NM_024757.5(EHMT1):c.444del (p.Gly149fs)	EHMT1 (G118fs +1 more)	Deletion (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 3069171	NM_024757.5(EHMT1):c.2382+1750G>A	EHMT1, LOC651337 (W808*)	Single nucleotide variant (non-coding transcript variant +2 more)	Kleefstra syndrome	GUncertain significance
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 3063074	GRCh37/hg19 9q34.3(chr9:140705084-140716973)x1	EHMT1	Copy number loss	not specified	GPathogenic
Select item 3038480	NM_024757.5(EHMT1):c.2382+1700T>G	EHMT1, LOC651337	Single nucleotide variant (non-coding transcript variant +1 more)	EHMT1-related disorder	GLikely benign
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 +1 more	GLikely benign
Select item 2995686	NM_024757.5(EHMT1):c.21+15del	EHMT1, LOC130003135	Deletion (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 2918440	NM_024757.5(EHMT1):c.21+10G>A	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
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 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 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 2840286	NM_024757.5(EHMT1):c.1634G>A (p.Ser545Asn)	EHMT1, LOC130003148 (S538N +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2834303	NM_024757.5(EHMT1):c.21+5G>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GBenign
Select item 2831910	NM_024757.5(EHMT1):c.21+13G>A	LOC130003135, EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2817751	NM_024757.5(EHMT1):c.18C>G (p.Ala6=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2807762	NM_024757.5(EHMT1):c.1596C>T (p.Ile532=)	EHMT1, LOC130003148	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2784656	NM_024757.5(EHMT1):c.21+8G>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2771622	NM_024757.5(EHMT1):c.3G>A (p.Met1Ile)	EHMT1, LOC130003135 (M1I)	Single nucleotide variant (missense variant +2 more)	Kleefstra syndrome 1	GUncertain significance
Select item 2753494	NM_024757.5(EHMT1):c.5C>T (p.Ala2Val)	EHMT1, LOC130003135 (A2V)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1	GUncertain significance
Select item 2748541	NM_024757.5(EHMT1):c.1557C>T (p.Leu519=)	EHMT1, LOC130003148	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1	GLikely benign
Select item 2746862	NM_024757.5(EHMT1):c.1625C>G (p.Ala542Gly)	EHMT1, LOC130003148 (A535G +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2740423	NM_024757.5(EHMT1):c.19G>A (p.Glu7Lys)	EHMT1, LOC130003135 (E7K)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 2733797	NM_024757.5(EHMT1):c.21+7A>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2718810	NM_024757.5(EHMT1):c.21+18C>G	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2579604	NM_024757.5(EHMT1):c.-5G>C	EHMT1, LOC130003135	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2441199	NM_024757.5(EHMT1):c.3397A>G (p.Thr1133Ala)	EHMT1 (T1126A +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2441197	NM_024757.5(EHMT1):c.961C>T (p.His321Tyr)	EHMT1 (H290Y +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2441195	NM_024757.5(EHMT1):c.1385A>G (p.Lys462Arg)	EHMT1 (K431R +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2441194	NM_024757.5(EHMT1):c.1331G>A (p.Arg444Lys)	EHMT1 (R413K +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2441193	NM_024757.5(EHMT1):c.329C>T (p.Thr110Ile)	EHMT1 (T110I +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2310131	NM_024757.5(EHMT1):c.1580C>T (p.Pro527Leu)	EHMT1, LOC130003148 (P496L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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