Related gene-specific medical variations for Gene (Select 2903) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065068	NM_001134407.3(GRIN2A):c.2197G>C (p.Ala733Pro)	GRIN2A (A733P)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3064535	NM_001134407.3(GRIN2A):c.3800A>G (p.Tyr1267Cys)	GRIN2A (Y1267C)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 3064513	NM_001134407.3(GRIN2A):c.2519T>A (p.Leu840His)	GRIN2A (L840H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2684784	GRCh37/hg19 16p13.2(chr16:9656789-10444689)x3	GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 2671962	NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)	GRIN2A (S1327G)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 2576168	NM_001134407.3(GRIN2A):c.2357-3704C>G	GRIN2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576167	NM_001134407.3(GRIN2A):c.414+29155A>T	GRIN2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2575938	NM_001134407.3(GRIN2A):c.2511G>A (p.Trp837Ter)	GRIN2A (W837*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2440611	NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)	GRIN2A (E315fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 2432291	NM_001134407.3(GRIN2A):c.2323A>G (p.Ile775Val)	GRIN2A (I775V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2432289	NM_001134407.3(GRIN2A):c.*6085G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2432288	NM_001134407.3(GRIN2A):c.3877G>A (p.Asp1293Asn)	GRIN2A (D1293N)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 2432287	NM_001134407.3(GRIN2A):c.2620G>A (p.Val874Met)	GRIN2A (V874M)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2432286	NM_001134407.3(GRIN2A):c.1006C>A (p.Pro336Thr)	GRIN2A (P336T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2432285	NM_001134407.3(GRIN2A):c.1084G>A (p.Val362Met)	GRIN2A (V362M)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1809421	GRCh37/hg19 16p13.2(chr16:10008022-10130991)x1	GRIN2A	Copy number loss	not provided	GPathogenic
Select item 1708207	NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)	GRIN2A (S554T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic
Select item 1708176	NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)	GRIN2A (N1294I)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1701697	NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 1700202	NM_001134407.3(GRIN2A):c.2197G>T (p.Ala733Ser)	GRIN2A (A733S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1684548	GRCh37/hg19 16p13.2(chr16:10031605-10033175)x1	GRIN2A	Copy number loss	See cases	GPathogenic
Select item 1679662	NM_001134407.3(GRIN2A):c.4319C>T (p.Ser1440Phe)	GRIN2A (S1440F)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 1526500	GRCh37/hg19 16p13.2(chr16:9937979-10149238)	GRIN2A	Copy number loss	not specified	GPathogenic
Select item 1342343	NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala)	GRIN2A (P1442A)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 1341865	NM_001134407.3(GRIN2A):c.415-89902G>A	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1341841	NM_001134407.3(GRIN2A):c.1008-22395A>T	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1341774	NM_001134407.3(GRIN2A):c.1007+5923G>C	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1319302	NM_001134407.3(GRIN2A):c.481A>T (p.Ile161Phe)	GRIN2A (I161F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213812	NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu)	GRIN2A (G957E)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 1098626	NM_001134407.3(GRIN2A):c.1778-2A>C	GRIN2A	Single nucleotide variant (splice acceptor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 998168	NM_000833.3:c.(?_-310-1)_(414+1_415-1)del	GRIN2A	Deletion	Epilepsy	GLikely pathogenic
Select item 987293	NM_001134407.3(GRIN2A):c.2660del (p.Leu887fs)	GRIN2A (L887fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986818	NM_001134407.3(GRIN2A):c.1498-2A>G	GRIN2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 978148	NM_001134407.3(GRIN2A):c.3604G>C (p.Glu1202Gln)	GRIN2A (E1202Q)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 975553	NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal)	GRIN2A	Insertion (inframe_insertion)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 975552	NM_001134407.3(GRIN2A):c.1498-6A>G	GRIN2A	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 930449	NM_001134407.3(GRIN2A):c.3705G>C (p.Lys1235Asn)	GRIN2A (K1235N)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 930312	NM_001134407.3(GRIN2A):c.3199C>T (p.Arg1067Trp)	GRIN2A (R1067W)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 872381	NM_001134407.3(GRIN2A):c.769G>A (p.Val257Ile)	GRIN2A (V257I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 815791	GRCh37/hg19 16p13.2(chr16:10269086-10408548)x3	GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 815790	GRCh37/hg19 16p13.2(chr16:9911385-10395882)x3	GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 815789	GRCh37/hg19 16p13.2(chr16:9890287-10086117)x3	GRIN2A	Copy number gain	not provided	GLikely pathogenic
Select item 813560	NM_001134407.3(GRIN2A):c.2325C>G (p.Ile775Met)	GRIN2A (I775M)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 807991	NM_001134407.3(GRIN2A):c.508T>C (p.Phe170Leu)	GRIN2A (F170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807986	NM_001134407.3(GRIN2A):c.3652C>T (p.Leu1218Phe)	GRIN2A (L1218F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625285	NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr)	GRIN2A (D1421Y)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 564269	GRCh37/hg19 16p13.2(chr16:10116698-10192271)x1	GRIN2A	Copy number loss	not provided	GUncertain significance
Select item 560130	Single allele	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 548453	NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His)	GRIN2A (N977H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 445704	NM_001134407.3(GRIN2A):c.142G>A (p.Glu48Lys)	GRIN2A (E48K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445656	NM_001134407.3(GRIN2A):c.2258G>C (p.Gly753Ala)	GRIN2A (G753A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 442102	GRCh37/hg19 16p13.2(chr16:9916365-10185615)x1	GRIN2A	Copy number loss	See cases	GPathogenic
Select item 377051	NM_001134407.3(GRIN2A):c.1895C>T (p.Ser632Phe)	GRIN2A (S632F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 377043	NM_001134407.3(GRIN2A):c.421A>C (p.Thr141Pro)	GRIN2A (T141P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253506	GRCh37/hg19 16p13.2(chr16:10031589-10051402)x1	GRIN2A	Copy number loss	See cases	GPathogenic
Select item 253382	GRCh37/hg19 16p13.2(chr16:9923137-9923798)x1	GRIN2A	Copy number loss	See cases	GPathogenic
Select item 253375	GRCh37/hg19 16p13.2(chr16:9915837-9916457)x1	GRIN2A	Copy number loss	See cases	GPathogenic
Select item 157355	Single allele	GRIN2A	Deletion	Preeclampsia	Gnot provided
Select item 98473	NM_001134407.3(GRIN2A):c.1362A>G (p.Lys454=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98472	NM_001134407.3(GRIN2A):c.1557T>C (p.Ser519=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98468	NM_001134407.3(GRIN2A):c.2199A>G (p.Ala733=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98466	NM_001134407.3(GRIN2A):c.2639A>G (p.Lys880Arg)	GRIN2A (K880R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98465	NM_001134407.3(GRIN2A):c.2657A>G (p.Asn886Ser)	GRIN2A (N886S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98462	NM_001134407.3(GRIN2A):c.3700T>G (p.Phe1234Val)	GRIN2A (F1234V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98457	NM_001134407.3(GRIN2A):c.205G>A (p.Val69Met)	GRIN2A (V69M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98450	NM_001134407.3(GRIN2A):c.909A>G (p.Ala303=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	Gnot provided

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Links from Gene

Items: 66