ClinVar for MedGen (Select 481912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257722	NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala)	GRIN1 (V656A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 3245249	NC_000009.11:g.(?_140052948)_(140058289_?)del	GRIN1	Deletion	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3245248	NC_000009.11:g.(?_140036455)_(140040364_?)dup	GRIN1	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3245247	NC_000009.11:g.(?_140033939)_(140053176_?)dup	GRIN1	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3245246	NC_000009.11:g.(?_140033939)_(140043581_?)dup	GRIN1	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3245245	NC_000009.11:g.(?_139981452)_(140036619_?)dup	DPP7, GRIN1 +1 more	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3245244	NC_000009.11:g.(?_140061843)_(140061979_?)del	GRIN1	Deletion	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 3234021	NM_007327.4(GRIN1):c.950C>T (p.Thr317Ile)	GRIN1 (T317I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3067992	NM_007327.4(GRIN1):c.80T>G (p.Val27Gly)	GRIN1 (V27G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3024529	NM_007327.4(GRIN1):c.2015T>C (p.Leu672Pro)	GRIN1 (L672P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3024338	NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly)	GRIN1 (V635G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive +2 more	GPathogenic
Select item 3022877	NM_007327.4(GRIN1):c.1197+11C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 3017928	NM_007327.4(GRIN1):c.114C>T (p.His38=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 3017191	NM_007327.4(GRIN1):c.1247G>A (p.Ser416Asn)	GRIN1 (S416N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3012894	NM_007327.4(GRIN1):c.1134G>A (p.Lys378=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 3012498	NM_007327.4(GRIN1):c.693A>G (p.Val231=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 3010290	NM_007327.4(GRIN1):c.1321G>C (p.Asp441His)	GRIN1 (D441H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3009470	NM_007327.4(GRIN1):c.1786_1787delinsTT (p.Glu596Leu)	GRIN1 (E596L +1 more)	Indel (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3006883	NM_007327.4(GRIN1):c.155G>A (p.Arg52Gln)	GRIN1 (R52Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3005744	NM_007327.4(GRIN1):c.917G>A (p.Arg306Gln)	GRIN1 (R306Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2984984	NM_007327.4(GRIN1):c.707C>T (p.Ala236Val)	GRIN1 (A236V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2984070	NM_007327.4(GRIN1):c.1751+17G>C	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2970279	NM_007327.4(GRIN1):c.2199G>C (p.Ser733=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2970124	NM_007327.4(GRIN1):c.1865-19G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2919292	NM_007327.4(GRIN1):c.1458A>G (p.Thr486=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 2919065	NM_007327.4(GRIN1):c.1632+6C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2914657	NM_007327.4(GRIN1):c.1425G>A (p.Glu475=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2914544	NM_007327.4(GRIN1):c.41C>T (p.Ser14Phe)	GRIN1 (S14F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2910238	NM_007327.4(GRIN1):c.2365G>A (p.Asp789Asn)	GRIN1 (D810N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GPathogenic
Select item 2908543	NM_007327.4(GRIN1):c.1198-14C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2905334	NM_007327.4(GRIN1):c.1150G>A (p.Gly384Arg)	GRIN1 (G405R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2903453	NM_007327.4(GRIN1):c.2013+17C>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2900248	NM_007327.4(GRIN1):c.2244G>A (p.Thr748=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2891754	NM_007327.4(GRIN1):c.1894C>T (p.Leu632=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 2891072	NM_007327.4(GRIN1):c.2028G>A (p.Ser676=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2888194	NM_007327.4(GRIN1):c.156G>A (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2887126	NM_007327.4(GRIN1):c.1566G>C (p.Glu522Asp)	GRIN1 (E522D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2882637	NM_007327.4(GRIN1):c.1509C>G (p.Gly503=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2879595	NM_007327.4(GRIN1):c.2333+14C>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2877585	NM_007327.4(GRIN1):c.1521C>T (p.Ser507=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2877522	NM_007327.4(GRIN1):c.1878C>T (p.Ser626=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2875549	NM_007327.4(GRIN1):c.1265A>G (p.Glu422Gly)	GRIN1 (E422G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2875194	NM_007327.4(GRIN1):c.2444-18C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2868151	NM_007327.4(GRIN1):c.650G>A (p.Arg217Gln)	GRIN1 (R238Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2867545	NM_007327.4(GRIN1):c.2070T>C (p.Asp690=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2866137	NM_007327.4(GRIN1):c.1214A>T (p.Gln405Leu)	GRIN1 (Q426L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GPathogenic
Select item 2864750	NM_007327.4(GRIN1):c.2226G>A (p.Gln742=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2864596	NM_007327.4(GRIN1):c.1674C>G (p.Phe558Leu)	GRIN1 (F558L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2862342	NM_007327.4(GRIN1):c.2755C>T (p.Arg919Ter)	GRIN1 (R919* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2861859	NM_007327.4(GRIN1):c.292C>G (p.Pro98Ala)	GRIN1 (P98A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2861809	NM_007327.4(GRIN1):c.671+5G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2858443	NM_007327.4(GRIN1):c.794-12A>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2857939	NM_007327.4(GRIN1):c.1339+16_1339+27del	GRIN1	Deletion (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2855886	NM_007327.4(GRIN1):c.1339+9_1339+10delinsTT	GRIN1	Indel (intron variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2855740	NM_007327.4(GRIN1):c.861G>A (p.Val287=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2854335	NM_007327.4(GRIN1):c.1468-4G>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2854320	NM_007327.4(GRIN1):c.438C>T (p.His146=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2853929	NM_007327.4(GRIN1):c.991G>A (p.Ala331Thr)	GRIN1 (A331T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2853015	NM_007327.4(GRIN1):c.60C>G (p.Ala20=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2852527	NM_007327.4(GRIN1):c.626T>C (p.Met209Thr)	GRIN1 (M209T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2850292	NM_007327.4(GRIN1):c.1509C>T (p.Gly503=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2849970	NM_007327.4(GRIN1):c.2484C>A (p.Ile828=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2847907	NM_007327.4(GRIN1):c.388G>A (p.Asp130Asn)	GRIN1 (D130N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2844419	NM_007327.4(GRIN1):c.2171+20C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2842516	NM_007327.4(GRIN1):c.619C>G (p.Leu207Val)	GRIN1 (L207V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2841633	NM_007327.4(GRIN1):c.365C>T (p.Thr122Ile)	GRIN1 (T122I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2841405	NM_007327.4(GRIN1):c.2473G>A (p.Val825Met)	GRIN1 (V846M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2840553	NM_007327.4(GRIN1):c.1113+2T>C	GRIN1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 2836372	NM_007327.4(GRIN1):c.1736del (p.Leu579fs)	GRIN1 (L600fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 8	GPathogenic
Select item 2835750	NM_007327.4(GRIN1):c.2444-2_2448del	GRIN1	Deletion (splice acceptor variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 2835641	NM_007327.4(GRIN1):c.486C>T (p.His162=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2835017	NM_007327.4(GRIN1):c.461T>A (p.Met154Lys)	GRIN1 (M154K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2835010	NM_007327.4(GRIN1):c.997G>T (p.Gly333Trp)	GRIN1 (G354W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2832560	NM_007327.4(GRIN1):c.1086G>A (p.Val362=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2832138	NM_007327.4(GRIN1):c.652G>C (p.Val218Leu)	GRIN1 (V239L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2831658	NM_007327.4(GRIN1):c.1041G>T (p.Lys347Asn)	GRIN1 (K368N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2830527	NM_007327.4(GRIN1):c.1865-8G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2830510	NM_007327.4(GRIN1):c.672-15C>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2830023	NM_007327.4(GRIN1):c.2700+12A>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2829209	NM_007327.4(GRIN1):c.600G>A (p.Gly200=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2827635	NM_007327.4(GRIN1):c.1707G>C (p.Ser569=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2827634	NM_007327.4(GRIN1):c.793+20G>C	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2827020	NM_007327.4(GRIN1):c.1605C>T (p.Tyr535=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 2827001	NM_007327.4(GRIN1):c.428C>T (p.Pro143Leu)	GRIN1 (P143L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2826326	NM_007327.4(GRIN1):c.2171+18A>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2823064	NM_007327.4(GRIN1):c.1467+2T>G	GRIN1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 2823049	NM_007327.4(GRIN1):c.2608G>A (p.Ala870Thr)	GRIN1 (A870T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2820459	NM_007327.4(GRIN1):c.969-1G>C	GRIN1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 2820159	NM_007327.4(GRIN1):c.1101C>T (p.Tyr367=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2818169	NM_007327.4(GRIN1):c.1467+11C>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2817403	NM_007327.4(GRIN1):c.465G>T (p.Met155Ile)	GRIN1 (M155I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2817329	NM_007327.4(GRIN1):c.1864+19C>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2816897	NM_007327.4(GRIN1):c.128G>T (p.Arg43Leu)	GRIN1 (R43L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2816214	NM_007327.4(GRIN1):c.197C>T (p.Thr66Met)	GRIN1 (T66M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2816025	NM_007327.4(GRIN1):c.2589+20G>C	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2813826	NM_007327.4(GRIN1):c.2443+12_2443+14del	GRIN1	Deletion (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2812589	NM_007327.4(GRIN1):c.1864+20G>T	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2812522	NM_007327.4(GRIN1):c.134C>T (p.Ala45Val)	GRIN1 (A45V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2810784	NM_007327.4(GRIN1):c.2076C>T (p.Tyr692=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2807358	NM_007327.4(GRIN1):c.1350G>C (p.Thr450=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign

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