"Mendelics"[submitter] AND "GRIN2A"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685865	NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs)	GRIN2A (T1441fs)	Deletion (frameshift variant +1 more)	Landau-Kleffner syndrome	GPathogenic
Select item 205679	NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)	GRIN2A (A1276G)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1684783	NM_001134407.3(GRIN2A):c.3712G>A (p.Ala1238Thr)	GRIN2A (A1238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 803212	NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu)	GRIN2A	Deletion (inframe_indel)	Landau-Kleffner syndrome	GLikely benign
Select item 803213	NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs)	GRIN2A (R1114fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 803214	NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs)	GRIN2A (T1108fs)	Insertion (frameshift variant)	Landau-Kleffner syndrome	GLikely benign
Select item 803215	NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile)	GRIN2A (K1107I)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 803216	NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs)	GRIN2A (K1107fs)	Insertion (frameshift variant)	Landau-Kleffner syndrome	GLikely benign
Select item 1684785	NM_001134407.3(GRIN2A):c.3032G>T (p.Arg1011Leu)	GRIN2A (R1011L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 205643	NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)	GRIN2A (G951V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +2 more	GBenign/Likely benign
Select item 495226	NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)	GRIN2A (A818E)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 803217	NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)	GRIN2A (M817T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 650867	NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)	GRIN2A (R504W)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic
Select item 803218	NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser)	GRIN2A (N443S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 205645	NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val)	GRIN2A (A290V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 129189	NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)	GRIN2A (F183I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 208502	NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly)	GRIN2A (D105G)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 803219	NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)	GRIN2A (T84S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1685337	NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile)	GRIN2A (M1I)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GLikely pathogenic