"GeneDx"[submitter] AND "GRIN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 1198978	NM_007327.4(GRIN1):c.-288CCG[5]	GRIN1	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 383437	NM_007327.4(GRIN1):c.-35C>A	GRIN1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 384548	NM_007327.4(GRIN1):c.-29G>A	GRIN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 391943	NM_007327.4(GRIN1):c.-24G>A	GRIN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508667	NM_007327.4(GRIN1):c.-16C>T	GRIN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1703385	NM_007327.4(GRIN1):c.5G>A (p.Ser2Asn)	GRIN1 (S2N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375966	NM_007327.4(GRIN1):c.44G>C (p.Cys15Ser)	GRIN1 (C15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509224	NM_007327.4(GRIN1):c.63G>A (p.Ala21=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 388209	NM_007327.4(GRIN1):c.66C>T (p.Cys22=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1082537	NM_007327.4(GRIN1):c.78C>T (p.Ile26=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1304486	NM_007327.4(GRIN1):c.103A>G (p.Thr35Ala)	GRIN1 (T35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385286	NM_007327.4(GRIN1):c.105G>A (p.Thr35=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 472572	NM_007327.4(GRIN1):c.152A>G (p.Lys51Arg)	GRIN1 (K51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 696902	NM_007327.4(GRIN1):c.159C>T (p.His53=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1703308	NM_007327.4(GRIN1):c.160G>A (p.Gly54Ser)	GRIN1 (G54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312120	NM_007327.4(GRIN1):c.183T>A (p.Asn61Lys)	GRIN1 (N61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365014	NM_007327.4(GRIN1):c.209A>G (p.Asn70Ser)	GRIN1 (N70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691205	NM_007327.4(GRIN1):c.230C>T (p.Ser77Leu)	GRIN1 (S77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488975	NM_007327.4(GRIN1):c.237C>A (p.Cys79Ter)	GRIN1 (C79*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 472575	NM_007327.4(GRIN1):c.237C>T (p.Cys79=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GBenign/Likely benign
Select item 384370	NM_007327.4(GRIN1):c.258+18C>T	GRIN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 668470	NM_007327.4(GRIN1):c.258+19G>A	GRIN1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 681618	NM_007327.4(GRIN1):c.258+235C>T	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677318	NM_007327.4(GRIN1):c.259-203G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258678	NM_007327.4(GRIN1):c.264C>T (p.Tyr88=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GBenign/Likely benign
Select item 2147758	NM_007327.4(GRIN1):c.268del (p.Ile90fs)	GRIN1 (I90fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3343687	NM_007327.4(GRIN1):c.284C>A (p.Pro95Gln)	GRIN1 (P95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511618	NM_007327.4(GRIN1):c.297C>T (p.Asn99=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 421219	NM_007327.4(GRIN1):c.329C>T (p.Thr110Ile)	GRIN1 (T110I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 388577	NM_007327.4(GRIN1):c.333C>T (p.Ala111=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 388821	NM_007327.4(GRIN1):c.351C>A (p.Pro117=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 211111	NM_007327.4(GRIN1):c.357G>A (p.Leu119=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1809909	NM_007327.4(GRIN1):c.362T>C (p.Leu121Pro)	GRIN1 (L121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562023	NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn)	GRIN1 (T123N)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 508906	NM_007327.4(GRIN1):c.387G>A (p.Ser129=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 391064	NM_007327.4(GRIN1):c.387G>C (p.Ser129=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 1217855	NM_007327.4(GRIN1):c.393+156G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256909	NM_007327.4(GRIN1):c.393+327_393+337del	GRIN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1203348	NM_007327.4(GRIN1):c.394-307G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194016	NM_007327.4(GRIN1):c.394-267A>G	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210487	NM_007327.4(GRIN1):c.394-247_394-188del	GRIN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1217595	NM_007327.4(GRIN1):c.394-215G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681797	NM_007327.4(GRIN1):c.394-188_394-130del	GRIN1	Deletion (intron variant)	not provided	GBenign
Select item 681798	NM_007327.4(GRIN1):c.394-176_394-175insA	GRIN1	Insertion (intron variant)	not provided	GBenign
Select item 681799	NM_007327.4(GRIN1):c.394-139C>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202708	NM_007327.4(GRIN1):c.394-38G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677617	NM_007327.4(GRIN1):c.394-32A>G	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271952	NM_007327.4(GRIN1):c.394-22G>A	GRIN1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive +3 more	GBenign
Select item 668421	NM_007327.4(GRIN1):c.394-22_394-20delinsACT	GRIN1	Indel (intron variant)	not provided	GLikely benign
Select item 387012	NM_007327.4(GRIN1):c.394-19G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8 +1 more	GBenign/Likely benign
Select item 383893	NM_007327.4(GRIN1):c.394-13C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 380817	NM_007327.4(GRIN1):c.394-11G>A	GRIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 387537	NM_007327.4(GRIN1):c.394-4G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8 +3 more	GBenign/Likely benign
Select item 698283	NM_007327.4(GRIN1):c.403C>T (p.Leu135=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 2115667	NM_007327.4(GRIN1):c.415C>T (p.Arg139Cys)	GRIN1 (R139C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +1 more	GUncertain significance
Select item 389124	NM_007327.4(GRIN1):c.426G>A (p.Pro142=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +2 more	GLikely benign
Select item 1513773	NM_007327.4(GRIN1):c.430T>G (p.Tyr144Asp)	GRIN1 (Y144D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 472580	NM_007327.4(GRIN1):c.467G>A (p.Arg156His)	GRIN1 (R156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 265555	NM_007327.4(GRIN1):c.505G>A (p.Asp169Asn)	GRIN1 (D169N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 701975	NM_007327.4(GRIN1):c.507C>T (p.Asp169=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GBenign/Likely benign
Select item 1080503	NM_007327.4(GRIN1):c.513C>T (p.His171=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 240835	NM_007327.4(GRIN1):c.525G>A (p.Ala175=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +3 more	GBenign/Likely benign
Select item 3338777	NM_007327.4(GRIN1):c.536G>A (p.Arg179His)	GRIN1 (R179H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388019	NM_007327.4(GRIN1):c.570+10G>A	GRIN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 385229	NM_007327.4(GRIN1):c.570+12C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8 +1 more	GBenign/Likely benign
Select item 515967	NM_007327.4(GRIN1):c.570+13G>A	GRIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 517783	NM_007327.4(GRIN1):c.570+16G>A	GRIN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 391405	NM_007327.4(GRIN1):c.570+20G>A	GRIN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 683402	NM_007327.4(GRIN1):c.570+263G>C	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683406	NM_007327.4(GRIN1):c.571-1141G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511673	NM_007327.4(GRIN1):c.571-19A>C	GRIN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507117	NM_007327.4(GRIN1):c.571-4G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8 +1 more	GLikely benign
Select item 851977	NM_007327.4(GRIN1):c.610G>A (p.Val204Met)	GRIN1 (V204M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 403960	NM_007327.4(GRIN1):c.614C>T (p.Thr205Met)	GRIN1 (T205M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 387829	NM_007327.4(GRIN1):c.630G>A (p.Glu210=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +2 more	GLikely benign
Select item 679953	NM_007327.4(GRIN1):c.633G>A (p.Ala211=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1216391	NM_007327.4(GRIN1):c.671+168G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670031	NM_007327.4(GRIN1):c.672-330A>G	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272474	NM_007327.4(GRIN1):c.672-324G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668913	NM_007327.4(GRIN1):c.672-267_672-229del	GRIN1	Deletion (intron variant)	not provided	GBenign
Select item 1186664	NM_007327.4(GRIN1):c.672-215C>T	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677787	NM_007327.4(GRIN1):c.672-148G>A	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677788	NM_007327.4(GRIN1):c.672-147C>T	GRIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681800	NM_007327.4(GRIN1):c.672-134A>G	GRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681801	NM_007327.4(GRIN1):c.672-106A>C	GRIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 681802	NM_007327.4(GRIN1):c.672-80A>G	GRIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1810463	NM_007327.4(GRIN1):c.679G>A (p.Asp227Asn)	GRIN1 (D227N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +1 more	GUncertain significance
Select item 2499684	NM_007327.4(GRIN1):c.691G>C (p.Val231Leu)	GRIN1 (V231L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385654	NM_007327.4(GRIN1):c.693A>C (p.Val231=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +2 more	GBenign/Likely benign
Select item 391919	NM_007327.4(GRIN1):c.696C>T (p.Tyr232=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +2 more	GLikely benign
Select item 1663918	NM_007327.4(GRIN1):c.700G>A (p.Ala234Thr)	GRIN1 (A234T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 1306459	NM_007327.4(GRIN1):c.722C>T (p.Thr241Met)	GRIN1 (T241M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625954	NM_007327.4(GRIN1):c.734A>T (p.Tyr245Phe)	GRIN1 (Y245F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +3 more	GUncertain significance
Select item 387574	NM_007327.4(GRIN1):c.747C>T (p.Val249=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 211112	NM_007327.4(GRIN1):c.768G>C (p.Gly256=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2582008	NM_007327.4(GRIN1):c.784G>A (p.Ala262Thr)	GRIN1 (A262T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129182	NM_007327.4(GRIN1):c.789A>G (p.Pro263=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign

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