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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361973	NM_001134407.3(GRIN2A):c.1582T>A (p.Phe528Ile)	GRIN2A (F528I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361176	NM_001134407.3(GRIN2A):c.1574C>T (p.Ser525Phe)	GRIN2A (S525F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360341	NM_001134407.3(GRIN2A):c.1828G>C (p.Gly610Arg)	GRIN2A (G610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359474	NM_001134407.3(GRIN2A):c.1222A>G (p.Ile408Val)	GRIN2A (I408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359055	NM_001134407.3(GRIN2A):c.2251G>T (p.Gly751Trp)	GRIN2A (G751W)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3243420	NC_000016.9:g.(?_9857612)_(9865030_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243419	NC_000016.9:g.(?_9916101)_(9943838_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3243418	NC_000016.9:g.(?_9943593)_(10032428_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3243417	NC_000016.9:g.(?_9892114)_(10032428_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3243415	NC_000016.9:g.(?_9916101)_(10274268_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 3243414	NC_000016.9:g.(?_9857006)_(9862966_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 3243413	NC_000016.9:g.(?_10273835)_(10274268_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely benign
Select item 3243412	NC_000016.9:g.(?_9857006)_(10274268_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 3243411	NC_000016.9:g.(?_9892114)_(10032428_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243410	NC_000016.9:g.(?_9857006)_(9892341_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243408	NC_000016.9:g.(?_9862688)_(9862966_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 81