GRIN2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 307713	NM_000834.5(GRIN2B):c.*1230G>C	GRIN2B	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 1281683	NM_000834.5(GRIN2B):c.*409T>G	GRIN2B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 307726	NM_000834.5(GRIN2B):c.*293G>A	GRIN2B	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307729	NM_000834.5(GRIN2B):c.*232T>C	GRIN2B	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307733	NM_000834.5(GRIN2B):c.110_113del	GRIN2B	Deletion (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307735	NM_000834.5(GRIN2B):c.25_28del	GRIN2B	Deletion (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 856799	NM_000834.5(GRIN2B):c.4437del (p.Ser1479fs)	GRIN2B (S1479fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 1120312	NM_000834.5(GRIN2B):c.4434T>C (p.Ser1478=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 579758	NM_000834.5(GRIN2B):c.4432T>C (p.Ser1478Pro)	GRIN2B (S1478P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 1367523	NM_000834.5(GRIN2B):c.4429C>G (p.Leu1477Val)	GRIN2B (L1477V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 1479105	NM_000834.5(GRIN2B):c.4421A>G (p.Tyr1474Cys)	GRIN2B (Y1474C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 544239	NM_000834.5(GRIN2B):c.4416T>G (p.His1472Gln)	GRIN2B (H1472Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 245976	NM_000834.5(GRIN2B):c.4413G>A (p.Gly1471=)	GRIN2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 391440	NM_000834.5(GRIN2B):c.4410T>C (p.Asn1470=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +3 more	GLikely benign
Select item 2432292	NM_000834.5(GRIN2B):c.4409A>G (p.Asn1470Ser)	GRIN2B (N1470S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679591	NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn)	GRIN2B (S1469N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2928981	NM_000834.5(GRIN2B):c.4402T>C (p.Ser1468Pro)	GRIN2B (S1468P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 205726	NM_000834.5(GRIN2B):c.4400G>C (p.Gly1467Ala)	GRIN2B (G1467A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954907	NM_000834.5(GRIN2B):c.4390G>C (p.Ala1464Pro)	GRIN2B (A1464P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 2041767	NM_000834.5(GRIN2B):c.4385C>A (p.Pro1462His)	GRIN2B (P1462H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 1740158	NM_000834.5(GRIN2B):c.4380A>G (p.Lys1460=)	GRIN2B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2689164	NM_000834.5(GRIN2B):c.4374CAA[1] (p.Asn1459del)	GRIN2B (N1459del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 847028	NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp)	GRIN2B (N1459D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +2 more	GBenign/Likely benign
Select item 205725	NM_000834.5(GRIN2B):c.4355C>T (p.Ser1452Phe)	GRIN2B (S1452F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 806833	NM_000834.5(GRIN2B):c.4341T>C (p.Cys1447=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1963698	NM_000834.5(GRIN2B):c.4337T>A (p.Ile1446Asn)	GRIN2B (I1446N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GBenign
Select item 2128457	NM_000834.5(GRIN2B):c.4330_4332del (p.Lys1444del)	GRIN2B (K1444del)	Deletion (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 1039906	NM_000834.5(GRIN2B):c.4330A>G (p.Lys1444Glu)	GRIN2B (K1444E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 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 581950	NM_000834.5(GRIN2B):c.4326C>G (p.Phe1442Leu)	GRIN2B (F1442L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 1096767	NM_000834.5(GRIN2B):c.4323T>C (p.Arg1441=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 506431	NM_000834.5(GRIN2B):c.4322G>A (p.Arg1441His)	GRIN2B (R1441H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +2 more	GBenign/Likely benign
Select item 855102	NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys)	GRIN2B (R1441C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GBenign
Select item 975554	NM_000834.5(GRIN2B):c.4319C>G (p.Ala1440Gly)	GRIN2B (A1440G)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2930028	NM_000834.5(GRIN2B):c.4318G>T (p.Ala1440Ser)	GRIN2B (A1440S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +2 more	GLikely benign
Select item 986097	NM_000834.5(GRIN2B):c.4316C>T (p.Pro1439Leu)	GRIN2B (P1439L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375537	NM_000834.5(GRIN2B):c.4315C>G (p.Pro1439Ala)	GRIN2B (P1439A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 1662515	NM_000834.5(GRIN2B):c.4314G>A (p.Val1438=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 245764	NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met)	GRIN2B (V1438M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 245624	NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 862667	NM_000834.5(GRIN2B):c.4310C>T (p.Ala1437Val)	GRIN2B (A1437V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 765967	NM_000834.5(GRIN2B):c.4309_4310delinsAT (p.Ala1437Ile)	GRIN2B (A1437I)	Indel (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 211124	NM_000834.5(GRIN2B):c.4309G>A (p.Ala1437Thr)	GRIN2B (A1437T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 569867	NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)	GRIN2B (G1436A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GConflicting classifications of pathogenicity
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 2087699	NM_000834.5(GRIN2B):c.4304dup (p.His1435fs)	GRIN2B (H1435fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 1168434	NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe)	GRIN2B (L1434F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +2 more	GConflicting classifications of pathogenicity
Select item 2689163	NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 544242	NM_000834.5(GRIN2B):c.4296G>A (p.Ser1432=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 452641	NM_000834.5(GRIN2B):c.4292T>C (p.Val1431Ala)	GRIN2B (V1431A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991200	NM_000834.5(GRIN2B):c.4289T>C (p.Val1430Ala)	GRIN2B (V1430A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GBenign
Select item 2630930	NM_000834.5(GRIN2B):c.4288G>A (p.Val1430Met)	GRIN2B (V1430M)	Single nucleotide variant (missense variant)	GRIN2B-related disorder	GUncertain significance
Select item 245623	NM_000834.5(GRIN2B):c.4288G>C (p.Val1430Leu)	GRIN2B (V1430L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380327	NM_000834.5(GRIN2B):c.4287G>A (p.Pro1429=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1004477	NM_000834.5(GRIN2B):c.4286C>T (p.Pro1429Leu)	GRIN2B (P1429L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GBenign
Select item 1341700	NM_000834.5(GRIN2B):c.4282A>C (p.Lys1428Gln)	GRIN2B (K1428Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GUncertain significance
Select item 660295	NM_000834.5(GRIN2B):c.4270C>T (p.Leu1424Phe)	GRIN2B (L1424F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GBenign
Select item 590112	NM_000834.5(GRIN2B):c.4269C>T (p.Ala1423=)	GRIN2B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1026066	NM_000834.5(GRIN2B):c.4268C>T (p.Ala1423Val)	GRIN2B (A1423V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 451978	NM_000834.5(GRIN2B):c.4265G>A (p.Arg1422Gln)	GRIN2B (R1422Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2946308	NM_000834.5(GRIN2B):c.4264C>G (p.Arg1422Gly)	GRIN2B (R1422G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2925391	NM_000834.5(GRIN2B):c.4264C>T (p.Arg1422Trp)	GRIN2B (R1422W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 246159	NM_000834.5(GRIN2B):c.4261T>C (p.Phe1421Leu)	GRIN2B (F1421L)	Single nucleotide variant (missense variant)	not specified +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 1111819	NM_000834.5(GRIN2B):c.4257G>A (p.Pro1419=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 2584385	NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)	GRIN2B (P1419L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GLikely pathogenic
Select item 2927516	NM_000834.5(GRIN2B):c.4254G>A (p.Arg1418=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 1964391	NM_000834.5(GRIN2B):c.4250C>G (p.Ala1417Gly)	GRIN2B (A1417G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 1720439	NM_000834.5(GRIN2B):c.4250C>T (p.Ala1417Val)	GRIN2B (A1417V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 2924478	NM_000834.5(GRIN2B):c.4249G>T (p.Ala1417Ser)	GRIN2B (A1417S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 1094200	NM_000834.5(GRIN2B):c.4245G>T (p.Ser1415=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 757593	NM_000834.5(GRIN2B):c.4245G>A (p.Ser1415=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +2 more	GLikely benign
Select item 1805506	NM_000834.5(GRIN2B):c.4244C>G (p.Ser1415Trp)	GRIN2B (S1415W)	Single nucleotide variant (missense variant)	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder +1 more	GUncertain significance
Select item 1005468	NM_000834.5(GRIN2B):c.4244C>T (p.Ser1415Leu)	GRIN2B (S1415L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +2 more	GUncertain significance
Select item 984887	NM_000834.5(GRIN2B):c.4244del (p.Ala1414_Ser1415insTer)	GRIN2B	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 1081585	NM_000834.5(GRIN2B):c.4242G>A (p.Ala1414=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 515602	NM_000834.5(GRIN2B):c.4241C>T (p.Ala1414Val)	GRIN2B (A1414V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1350761	NM_000834.5(GRIN2B):c.4240G>A (p.Ala1414Thr)	GRIN2B (A1414T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 98430	NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser)	GRIN2B (A1414S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +4 more	GBenign/Likely benign
Select item 2156461	NM_000834.5(GRIN2B):c.4236G>A (p.Ala1412=)	GRIN2B	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 27 +1 more	GLikely benign
Select item 435384	NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu)	GRIN2B (A1412E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +2 more	GBenign/Likely benign
Select item 502317	NM_000834.5(GRIN2B):c.4232T>G (p.Val1411Gly)	GRIN2B (V1411G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569547	NM_000834.5(GRIN2B):c.4230G>C (p.Thr1410=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 307736	NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=)	GRIN2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 6 +1 more	GBenign
Select item 855066	NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg)	GRIN2B (T1410R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GBenign

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