GRIN2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 149100	GRCh38/hg38 16p13.2(chr16:8994630-9793745)x3	GRIN2A, HAPSTR1 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 1696577	Single allele	GRIN2A, LOC130058418	Deletion	Landau-Kleffner syndrome	GLikely pathogenic
Select item 321458	NM_001134407.3(GRIN2A):c.*9692A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321459	NM_001134407.3(GRIN2A):c.*9632T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321460	NM_001134407.3(GRIN2A):c.*9517T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 884937	NM_001134407.3(GRIN2A):c.*9481T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 884938	NM_001134407.3(GRIN2A):c.*9392T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321461	NM_001134407.3(GRIN2A):c.*9325G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321462	NM_001134407.3(GRIN2A):c.*9278C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 885859	NM_001134407.3(GRIN2A):c.*9255C>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321463	NM_001134407.3(GRIN2A):c.*9207G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321464	NM_001134407.3(GRIN2A):c.*8978G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321465	NM_001134407.3(GRIN2A):c.*8781G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321466	NM_001134407.3(GRIN2A):c.*8753T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885860	NM_001134407.3(GRIN2A):c.*8714T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321467	NM_001134407.3(GRIN2A):c.*8626G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321468	NM_001134407.3(GRIN2A):c.*8609C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321469	NM_001134407.3(GRIN2A):c.*8542T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321470	NM_001134407.3(GRIN2A):c.8536_8537insC	GRIN2A	Insertion (3 prime UTR variant)	Landau-Kleffner syndrome	GLikely benign
Select item 321471	NM_001134407.3(GRIN2A):c.*8535A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321472	NM_001134407.3(GRIN2A):c.*8398G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 321473	NM_001134407.3(GRIN2A):c.*8396T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GBenign
Select item 2570930	NM_001134407.3(GRIN2A):c.*8362del	GRIN2A	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 321474	NM_001134407.3(GRIN2A):c.*8359T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321475	NM_001134407.3(GRIN2A):c.*8156A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321476	NM_001134407.3(GRIN2A):c.*8077T>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 888125	NM_001134407.3(GRIN2A):c.*8051A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321477	NM_001134407.3(GRIN2A):c.*7982A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 888126	NM_001134407.3(GRIN2A):c.*7906A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321478	NM_001134407.3(GRIN2A):c.*7898A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321479	NM_001134407.3(GRIN2A):c.*7897C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321480	NM_001134407.3(GRIN2A):c.*7775C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321481	NM_001134407.3(GRIN2A):c.7650_7654del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GLikely benign
Select item 321482	NM_001134407.3(GRIN2A):c.*7483C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 885003	NM_001134407.3(GRIN2A):c.*7425T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321483	NM_001134407.3(GRIN2A):c.*7379A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321484	NM_001134407.3(GRIN2A):c.*7349C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885004	NM_001134407.3(GRIN2A):c.*7326C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885005	NM_001134407.3(GRIN2A):c.*7324G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321485	NM_001134407.3(GRIN2A):c.*7324G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321486	NM_001134407.3(GRIN2A):c.*7293del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321487	NM_001134407.3(GRIN2A):c.*7289T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321488	NM_001134407.3(GRIN2A):c.*7278G>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321489	NM_001134407.3(GRIN2A):c.*7207G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321491	NM_001134407.3(GRIN2A):c.*7112A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321490	NM_001134407.3(GRIN2A):c.*7112A>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885916	NM_001134407.3(GRIN2A):c.*7089T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321492	NM_001134407.3(GRIN2A):c.*7009CA[9]	GRIN2A	Microsatellite (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321493	NM_001134407.3(GRIN2A):c.*6986A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321494	NM_001134407.3(GRIN2A):c.*6941C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885917	NM_001134407.3(GRIN2A):c.*6932T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321495	NM_001134407.3(GRIN2A):c.*6906T>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321496	NM_001134407.3(GRIN2A):c.*6897del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886923	NM_001134407.3(GRIN2A):c.*6865T>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321497	NM_001134407.3(GRIN2A):c.*6846C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886924	NM_001134407.3(GRIN2A):c.*6774T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321498	NM_001134407.3(GRIN2A):c.*6760G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886925	NM_001134407.3(GRIN2A):c.*6750T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886926	NM_001134407.3(GRIN2A):c.*6685G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321499	NM_001134407.3(GRIN2A):c.*6661G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321500	NM_001134407.3(GRIN2A):c.*6659G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321501	NM_001134407.3(GRIN2A):c.*6609T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321502	NM_001134407.3(GRIN2A):c.*6601G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321503	NM_001134407.3(GRIN2A):c.*6599T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321504	NM_001134407.3(GRIN2A):c.*6597G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321505	NM_001134407.3(GRIN2A):c.*6596C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321506	NM_001134407.3(GRIN2A):c.*6545C>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888191	NM_001134407.3(GRIN2A):c.*6528A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321507	NM_001134407.3(GRIN2A):c.*6475T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885066	NM_001134407.3(GRIN2A):c.*6472G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321508	NM_001134407.3(GRIN2A):c.*6452G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885067	NM_001134407.3(GRIN2A):c.*6451C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321509	NM_001134407.3(GRIN2A):c.*6449G>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321510	NM_001134407.3(GRIN2A):c.*6444G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885068	NM_001134407.3(GRIN2A):c.*6384G>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321511	NM_001134407.3(GRIN2A):c.*6323C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321512	NM_001134407.3(GRIN2A):c.*6282T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885989	NM_001134407.3(GRIN2A):c.*6180G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321513	NM_001134407.3(GRIN2A):c.*6178T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321514	NM_001134407.3(GRIN2A):c.*6149C>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GBenign
Select item 321515	NM_001134407.3(GRIN2A):c.*6128A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GBenign
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 885990	NM_001134407.3(GRIN2A):c.*6084C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321516	NM_001134407.3(GRIN2A):c.*6042A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 885991	NM_001134407.3(GRIN2A):c.*6013T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321517	NM_001134407.3(GRIN2A):c.*5996C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321518	NM_001134407.3(GRIN2A):c.*5942G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321519	NM_001134407.3(GRIN2A):c.*5884G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321520	NM_001134407.3(GRIN2A):c.*5818C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321521	NM_001134407.3(GRIN2A):c.*5790del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321523	NM_001134407.3(GRIN2A):c.*5775dup	GRIN2A	Duplication (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321522	NM_001134407.3(GRIN2A):c.*5776A>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GBenign
Select item 321524	NM_001134407.3(GRIN2A):c.*5775T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GBenign

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