Related gene-specific medical variations for Gene (Select 2904) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065274	NM_000834.5(GRIN2B):c.2823del (p.Phe941fs)	GRIN2B (F941fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 6	GLikely pathogenic
Select item 3062093	NM_000834.5(GRIN2B):c.1335_1338del (p.Asp447fs)	GRIN2B (D447fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 6	GPathogenic
Select item 3061745	NM_000834.5(GRIN2B):c.2011-2_2021dup	GRIN2B	Duplication (splice acceptor variant)	Intellectual disability, autosomal dominant 6	GPathogenic
Select item 2690619	NM_000834.5(GRIN2B):c.2452A>T (p.Met818Leu)	GRIN2B (M818L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2689164	NM_000834.5(GRIN2B):c.4374CAA[1] (p.Asn1459del)	GRIN2B (N1459del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2689162	NM_000834.5(GRIN2B):c.3372G>A (p.Arg1124=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2582629	NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)	GRIN2B	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 27	GLikely pathogenic
Select item 2582307	NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)	GRIN2B (M818V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GConflicting classifications of pathogenicity
Select item 2432301	NM_000834.5(GRIN2B):c.2311G>C (p.Gly771Arg)	GRIN2B (G771R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432299	NM_000834.5(GRIN2B):c.857A>G (p.Asp286Gly)	GRIN2B (D286G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432298	NM_000834.5(GRIN2B):c.2487G>A (p.Met829Ile)	GRIN2B (M829I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432297	NM_000834.5(GRIN2B):c.3408G>C (p.Gln1136His)	GRIN2B (Q1136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432296	NM_000834.5(GRIN2B):c.200G>A (p.Arg67Gln)	GRIN2B (R67Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432295	NM_000834.5(GRIN2B):c.544T>G (p.Phe182Val)	GRIN2B (F182V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432294	NM_000834.5(GRIN2B):c.2773A>G (p.Ile925Val)	GRIN2B (I925V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432293	NM_000834.5(GRIN2B):c.805G>C (p.Val269Leu)	GRIN2B (V269L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2429958	NM_000834.5(GRIN2B):c.2431A>T (p.Ser811Cys)	GRIN2B (S811C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429947	NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)	GRIN2B (S9fs)	Insertion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2429927	NM_000834.5(GRIN2B):c.1755T>G (p.Tyr585Ter)	GRIN2B (Y585*)	Single nucleotide variant (nonsense)	Developmental disorder	GPathogenic
Select item 2429917	NM_000834.5(GRIN2B):c.1108G>T (p.Glu370Ter)	GRIN2B (E370*)	Single nucleotide variant (nonsense)	Developmental disorder	GPathogenic
Select item 1803033	NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys)	GRIN2B (E413K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GLikely pathogenic
Select item 1696671	NM_000834.5(GRIN2B):c.2117T>A (p.Met706Lys)	GRIN2B (M706K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GPathogenic
Select item 1690349	NM_000834.5(GRIN2B):c.1848C>A (p.Asn616Lys)	GRIN2B (N616K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1527685	GRCh37/hg19 12p13.1(chr12:14070549-14224680)	GRIN2B	Copy number loss	not specified	GPathogenic
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 1341678	NM_000834.3:c.3628_3629insALU	GRIN2B	Insertion	Intellectual disability, autosomal dominant 6	GUncertain significance
Select item 1323037	NM_000834.5(GRIN2B):c.2010+1del	GRIN2B	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1177378	NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp)	GRIN2B (E657D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely pathogenic
Select item 995413	NM_000834.5(GRIN2B):c.3284C>T (p.Ser1095Leu)	GRIN2B (S1095L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GUncertain significance
Select item 984688	NCBI36/hg18 12p13.1(chr12:13526418-13654145)x1	GRIN2B	Copy number loss	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 979950	GRCh37/hg19 12p13.1(chr12:13772992-13796378)x1	GRIN2B	Copy number loss	not provided	GUncertain significance
Select item 975555	NM_000834.5(GRIN2B):c.3702_3705dup (p.Arg1236fs)	GRIN2B (R1236fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 6	GPathogenic
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 931755	NM_000834.5(GRIN2B):c.2011-18_2011-3del	GRIN2B	Deletion (intron variant)	Intellectual disability, autosomal dominant 6	GUncertain significance
Select item 930832	NM_000834.5(GRIN2B):c.7C>T (p.Pro3Ser)	GRIN2B (P3S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GUncertain significance
Select item 872100	NM_000834.5(GRIN2B):c.1396A>T (p.Lys466Ter)	GRIN2B (K466*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 806836	NM_000834.5(GRIN2B):c.2613C>T (p.Cys871=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 806835	NM_000834.5(GRIN2B):c.3040C>A (p.Gln1014Lys)	GRIN2B (Q1014K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 687277	GRCh37/hg19 12p13.1(chr12:13722312-13788885)x3	GRIN2B	Copy number gain	not provided	GUncertain significance
Select item 560713	NM_000834.5(GRIN2B):c.3470A>G (p.Glu1157Gly)	GRIN2B (E1157G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27	GUncertain significance
Select item 441890	GRCh37/hg19 12p13.1(chr12:14062058-14210918)x1	GRIN2B	Copy number loss	See cases	GLikely pathogenic
Select item 425001	NM_000834.5(GRIN2B):c.1767C>G (p.Leu589=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 151286	GRCh38/hg38 12p13.1(chr12:13634987-13726033)x3	GRIN2B	Copy number gain	See cases	GLikely pathogenic
Select item 98439	NM_000834.5(GRIN2B):c.1833T>C (p.Gly611=)	GRIN2B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided

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Links from Gene

Items: 46