ClinVar for MedGen (Select 863753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362293	NM_000834.5(GRIN2B):c.3839A>C (p.Lys1280Thr)	GRIN2B (K1280T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27	GLikely pathogenic
Select item 3236433	NM_000834.5(GRIN2B):c.2009A>T (p.Lys670Met)	GRIN2B (K670M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27	GUncertain significance
Select item 3061857	NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg)	GRIN2B (C232R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 3024234	NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys)	GRIN2B (S1403C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27	GUncertain significance
Select item 2954226	NM_000834.5(GRIN2B):c.397A>G (p.Ile133Val)	GRIN2B (I133V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2954067	NM_000834.5(GRIN2B):c.251G>C (p.Arg84Pro)	GRIN2B (R84P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2954064	NM_000834.5(GRIN2B):c.3902A>G (p.Gln1301Arg)	GRIN2B (Q1301R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2954025	NM_000834.5(GRIN2B):c.101G>C (p.Ser34Thr)	GRIN2B (S34T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2953876	NM_000834.5(GRIN2B):c.2184C>T (p.Ala728=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2953732	NM_000834.5(GRIN2B):c.1965C>A (p.Ile655=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2953685	NM_000834.5(GRIN2B):c.1560G>C (p.Ser520=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2953489	NM_000834.5(GRIN2B):c.3792C>G (p.Asp1264Glu)	GRIN2B (D1264E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2953439	NM_000834.5(GRIN2B):c.1541C>A (p.Thr514Asn)	GRIN2B (T514N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2953379	NM_000834.5(GRIN2B):c.689T>C (p.Leu230Pro)	GRIN2B (L230P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2953372	NM_000834.5(GRIN2B):c.476A>G (p.Asn159Ser)	GRIN2B (N159S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2953326	NM_000834.5(GRIN2B):c.3836C>T (p.Thr1279Ile)	GRIN2B (T1279I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2952934	NM_000834.5(GRIN2B):c.3629C>G (p.Ser1210Cys)	GRIN2B (S1210C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2952038	NM_000834.5(GRIN2B):c.4329G>A (p.Gln1443=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 2951988	NM_000834.5(GRIN2B):c.2835C>T (p.Asp945=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 2951786	NM_000834.5(GRIN2B):c.4023G>A (p.Glu1341=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 2951782	NM_000834.5(GRIN2B):c.1659A>C (p.Pro553=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 2951780	NM_000834.5(GRIN2B):c.588C>G (p.Gly196=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 2951777	NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)	GRIN2B (N915K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GBenign
Select item 2951628	NM_000834.5(GRIN2B):c.3047G>C (p.Arg1016Thr)	GRIN2B (R1016T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2951535	NM_000834.5(GRIN2B):c.3104T>C (p.Leu1035Pro)	GRIN2B (L1035P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2951408	NM_000834.5(GRIN2B):c.3970C>T (p.Leu1324=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2951193	NM_000834.5(GRIN2B):c.3127T>C (p.Ser1043Pro)	GRIN2B (S1043P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2951095	NM_000834.5(GRIN2B):c.1655-14T>C	GRIN2B	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2950860	NM_000834.5(GRIN2B):c.3152G>C (p.Gly1051Ala)	GRIN2B (G1051A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2950632	NM_000834.5(GRIN2B):c.2069G>T (p.Ser690Ile)	GRIN2B (S690I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2950630	NM_000834.5(GRIN2B):c.1731T>G (p.Phe577Leu)	GRIN2B (F577L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2950480	NM_000834.5(GRIN2B):c.266T>C (p.Met89Thr)	GRIN2B (M89T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2950475	NM_000834.5(GRIN2B):c.856G>C (p.Asp286His)	GRIN2B (D286H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GBenign
Select item 2950462	NM_000834.5(GRIN2B):c.3630C>T (p.Ser1210=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2950022	NM_000834.5(GRIN2B):c.2242C>T (p.Leu748=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2949635	NM_000834.5(GRIN2B):c.77C>T (p.Ala26Val)	GRIN2B (A26V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2949570	NM_000834.5(GRIN2B):c.1773T>C (p.Asp591=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2949545	NM_000834.5(GRIN2B):c.4064C>T (p.Ser1355Leu)	GRIN2B (S1355L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2949314	NM_000834.5(GRIN2B):c.2795A>G (p.Tyr932Cys)	GRIN2B (Y932C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2948990	NM_000834.5(GRIN2B):c.544T>C (p.Phe182Leu)	GRIN2B (F182L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2948703	NM_000834.5(GRIN2B):c.1386T>C (p.Ile462=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2948673	NM_000834.5(GRIN2B):c.1667_1672dup (p.Asp557_Val558insAlaAsp)	GRIN2B	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2948199	NM_000834.5(GRIN2B):c.2301A>G (p.Gln767=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2948084	NM_000834.5(GRIN2B):c.3535A>T (p.Ile1179Phe)	GRIN2B (I1179F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2947778	NM_000834.5(GRIN2B):c.573G>A (p.Glu191=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2947649	NM_000834.5(GRIN2B):c.2646T>C (p.Ser882=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2947096	NM_000834.5(GRIN2B):c.36C>G (p.Phe12Leu)	GRIN2B (F12L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2947072	NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)	GRIN2B (A819V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely pathogenic
Select item 2946794	NM_000834.5(GRIN2B):c.1223T>C (p.Ile408Thr)	GRIN2B (I408T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GPathogenic
Select item 2946770	NM_000834.5(GRIN2B):c.66A>G (p.Ser22=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2946589	NM_000834.5(GRIN2B):c.2572C>G (p.Pro858Ala)	GRIN2B (P858A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2946308	NM_000834.5(GRIN2B):c.4264C>G (p.Arg1422Gly)	GRIN2B (R1422G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2945890	NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)	GRIN2B (E517K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely pathogenic
Select item 2945847	NM_000834.5(GRIN2B):c.1664G>C (p.Ser555Thr)	GRIN2B (S555T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GPathogenic
Select item 2945623	NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)	GRIN2B (V536A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely pathogenic
Select item 2945206	NM_000834.5(GRIN2B):c.2360-16T>G	GRIN2B	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2944210	NM_000834.5(GRIN2B):c.180C>T (p.His60=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2943983	NM_000834.5(GRIN2B):c.2352_2359+2dup	GRIN2B	Duplication (splice donor variant)	Developmental and epileptic encephalopathy, 27 +1 more	GPathogenic
Select item 2943957	NM_000834.5(GRIN2B):c.478A>T (p.Ile160Phe)	GRIN2B (I160F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2943741	NM_000834.5(GRIN2B):c.2083A>G (p.Ile695Val)	GRIN2B (I695V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2943521	NM_000834.5(GRIN2B):c.2359+17G>C	GRIN2B	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2943085	NM_000834.5(GRIN2B):c.3255T>C (p.Tyr1085=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2942465	NM_000834.5(GRIN2B):c.862G>C (p.Gly288Arg)	GRIN2B (G288R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2942434	NM_000834.5(GRIN2B):c.1758C>T (p.Asn586=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2942365	NM_000834.5(GRIN2B):c.3139G>A (p.Asp1047Asn)	GRIN2B (D1047N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2942293	NM_000834.5(GRIN2B):c.4028C>T (p.Ser1343Leu)	GRIN2B (S1343L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2942282	NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2942206	NM_000834.5(GRIN2B):c.3547A>G (p.Thr1183Ala)	GRIN2B (T1183A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2942037	NM_000834.5(GRIN2B):c.4141C>A (p.Arg1381=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2942003	NM_000834.5(GRIN2B):c.1055G>A (p.Ser352Asn)	GRIN2B (S352N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2941991	NM_000834.5(GRIN2B):c.1932C>G (p.Ala644=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2941822	NM_000834.5(GRIN2B):c.2852A>T (p.Asn951Ile)	GRIN2B (N951I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2941728	NM_000834.5(GRIN2B):c.177CCA[1] (p.His61del)	GRIN2B (H61del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2941104	NM_000834.5(GRIN2B):c.4259A>G (p.Asp1420Gly)	GRIN2B (D1420G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2940514	NM_000834.5(GRIN2B):c.3597G>C (p.Lys1199Asn)	GRIN2B (K1199N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2940442	NM_000834.5(GRIN2B):c.3318G>A (p.Glu1106=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2939929	NM_000834.5(GRIN2B):c.3472C>T (p.Arg1158Trp)	GRIN2B (R1158W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2939828	NM_000834.5(GRIN2B):c.1509G>A (p.Met503Ile)	GRIN2B (M503I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2939607	NM_000834.5(GRIN2B):c.1011-20C>T	GRIN2B	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2939094	NM_000834.5(GRIN2B):c.3231C>A (p.Ala1077=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2939026	NM_000834.5(GRIN2B):c.2779C>A (p.Arg927=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2938852	NM_000834.5(GRIN2B):c.1654+8A>G	GRIN2B	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2938708	NM_000834.5(GRIN2B):c.3004G>A (p.Gly1002Arg)	GRIN2B (G1002R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2938633	NM_000834.5(GRIN2B):c.95C>A (p.Pro32His)	GRIN2B (P32H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2938611	NM_000834.5(GRIN2B):c.4326C>T (p.Phe1442=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2938596	NM_000834.5(GRIN2B):c.3844C>A (p.Pro1282Thr)	GRIN2B (P1282T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2938438	NM_000834.5(GRIN2B):c.17A>C (p.Glu6Ala)	GRIN2B (E6A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2938391	NM_000834.5(GRIN2B):c.4305T>C (p.His1435=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2938058	NM_000834.5(GRIN2B):c.414T>C (p.Asp138=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2937923	NM_000834.5(GRIN2B):c.3546G>A (p.Gly1182=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2937751	NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)	GRIN2B (T121I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GBenign
Select item 2937725	NM_000834.5(GRIN2B):c.1786G>A (p.Gly596Ser)	GRIN2B (G596S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2937131	NM_000834.5(GRIN2B):c.533G>A (p.Gly178Asp)	GRIN2B (G178D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2937095	NM_000834.5(GRIN2B):c.1807G>A (p.Gly603Ser)	GRIN2B (G603S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2937069	NM_000834.5(GRIN2B):c.3295C>T (p.Arg1099Cys)	GRIN2B (R1099C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2936869	NM_000834.5(GRIN2B):c.2698C>T (p.Arg900Cys)	GRIN2B (R900C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2936802	NM_000834.5(GRIN2B):c.3096C>T (p.His1032=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2936542	NM_000834.5(GRIN2B):c.1011-15A>G	GRIN2B	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 2936352	NM_000834.5(GRIN2B):c.3074T>G (p.Ile1025Ser)	GRIN2B (I1025S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2936168	NM_000834.5(GRIN2B):c.1349C>T (p.Pro450Leu)	GRIN2B (P450L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance

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