GRIN1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1087

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 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 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC130003113, LOC130003114 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
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 specified	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 539839	NM_007327.4(GRIN1):c.1A>T (p.Met1Leu)	GRIN1 (M1L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2028111	NM_007327.4(GRIN1):c.2T>C (p.Met1Thr)	GRIN1 (M1T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 8	GUncertain significance
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 1117332	NM_007327.4(GRIN1):c.9C>T (p.Thr3=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1773981	NM_007327.4(GRIN1):c.14G>A (p.Arg5His)	GRIN1 (R5H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +1 more	GUncertain significance
Select item 562038	NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)	GRIN1 (T8P)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GBenign/Likely benign
Select item 2104375	NM_007327.4(GRIN1):c.23C>T (p.Thr8Met)	GRIN1 (T8M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 959066	NM_007327.4(GRIN1):c.35T>C (p.Leu12Pro)	GRIN1 (L12P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 726042	NM_007327.4(GRIN1):c.36G>C (p.Leu12=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1004101	NM_007327.4(GRIN1):c.41_43del (p.Ser14del)	GRIN1 (S14del)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 8	GUncertain significance
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 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 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 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 1764732	NM_007327.4(GRIN1):c.87T>C (p.Ile29=)	GRIN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2074663	NM_007327.4(GRIN1):c.92C>A (p.Ala31Glu)	GRIN1 (A31E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
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)	not provided +1 more	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 2119508	NM_007327.4(GRIN1):c.118C>T (p.Gln40Ter)	GRIN1 (Q40*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 8	GPathogenic
Select item 2778597	NM_007327.4(GRIN1):c.123G>A (p.Met41Ile)	GRIN1 (M41I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
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 1934032	NM_007327.4(GRIN1):c.129C>T (p.Arg43=)	GRIN1	Single nucleotide variant (synonymous 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 1599714	NM_007327.4(GRIN1):c.139A>T (p.Asn47Tyr)	GRIN1 (N47Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 472572	NM_007327.4(GRIN1):c.152A>G (p.Lys51Arg)	GRIN1 (K51R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2117298	NM_007327.4(GRIN1):c.154C>A (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 539838	NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly)	GRIN1 (R52G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GBenign
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 1592976	NM_007327.4(GRIN1):c.155G>C (p.Arg52Pro)	GRIN1 (R52P)	Single nucleotide variant (missense 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 2700857	NM_007327.4(GRIN1):c.156G>C (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1568945	NM_007327.4(GRIN1):c.156G>T (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
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 3102461	NM_007327.4(GRIN1):c.168G>C (p.Trp56Cys)	GRIN1 (W56C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2750014	NM_007327.4(GRIN1):c.176A>G (p.Gln59Arg)	GRIN1 (Q59R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1142448	NM_007327.4(GRIN1):c.180C>T (p.Leu60=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
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 1100697	NM_007327.4(GRIN1):c.192C>T (p.Ser64=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1544576	NM_007327.4(GRIN1):c.195C>T (p.Val65=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
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 2700492	NM_007327.4(GRIN1):c.201C>G (p.His67Gln)	GRIN1 (H67Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	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 1999069	NM_007327.4(GRIN1):c.231G>T (p.Ser77=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 810479	NM_007327.4(GRIN1):c.231G>A (p.Ser77=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 488975	NM_007327.4(GRIN1):c.237C>A (p.Cys79Ter)	GRIN1 (C79*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 8 +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 646663	NM_007327.4(GRIN1):c.238G>A (p.Glu80Lys)	GRIN1 (E80K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 240834	NM_007327.4(GRIN1):c.246C>T (p.Leu82=)	GRIN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1667621	NM_007327.4(GRIN1):c.249C>A (p.Ile83=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 211110	NM_007327.4(GRIN1):c.255C>T (p.Ser85=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2006070	NM_007327.4(GRIN1):c.258+8C>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1993321	NM_007327.4(GRIN1):c.258+12C>G	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 384370	NM_007327.4(GRIN1):c.258+18C>T	GRIN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 668470	NM_007327.4(GRIN1):c.258+19G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8 +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 1642382	NM_007327.4(GRIN1):c.259-18T>C	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2726802	NM_007327.4(GRIN1):c.259-13_259-11del	GRIN1	Deletion (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 472578	NM_007327.4(GRIN1):c.259-10G>A	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 539844	NM_007327.4(GRIN1):c.259-9T>C	GRIN1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 8	GLikely benign

<< First< Prev

Page of 11