ClinVar for Gene (Select 2905) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 111

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344884	NM_000835.6(GRIN2C):c.2583+4G>C	GRIN2C (G863R)	Single nucleotide variant (missense variant +1 more)	GRIN2C-related disorder	GUncertain significance
Select item 3282780	NM_000835.6(GRIN2C):c.545T>G (p.Val182Gly)	GRIN2C, LOC130061625 (V182G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282779	NM_000835.6(GRIN2C):c.4G>A (p.Gly2Ser)	GRIN2C (G2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282778	NM_000835.6(GRIN2C):c.199G>A (p.Val67Ile)	GRIN2C (V67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282777	NM_000835.6(GRIN2C):c.1301G>A (p.Arg434His)	GRIN2C (R434H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282776	NM_000835.6(GRIN2C):c.2645C>T (p.Pro882Leu)	GRIN2C (P882L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282775	NM_000835.6(GRIN2C):c.1195G>C (p.Asp399His)	GRIN2C (D399H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282774	NM_000835.6(GRIN2C):c.2816G>A (p.Arg939Gln)	GRIN2C (R939Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282773	NM_000835.6(GRIN2C):c.2786C>T (p.Ala929Val)	GRIN2C (A929V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282771	NM_000835.6(GRIN2C):c.869G>A (p.Arg290His)	GRIN2C (R290H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102498	NM_000835.6(GRIN2C):c.935C>T (p.Ala312Val)	GRIN2C (A312V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102497	NM_000835.6(GRIN2C):c.860A>G (p.Gln287Arg)	GRIN2C (Q287R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102496	NM_000835.6(GRIN2C):c.731G>C (p.Gly244Ala)	GRIN2C (G244A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102495	NM_000835.6(GRIN2C):c.667G>C (p.Val223Leu)	GRIN2C (V223L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102494	NM_000835.6(GRIN2C):c.65G>A (p.Gly22Asp)	GRIN2C (G22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102493	NM_000835.6(GRIN2C):c.617G>C (p.Gly206Ala)	GRIN2C (G206A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102492	NM_000835.6(GRIN2C):c.437T>C (p.Leu146Pro)	GRIN2C (L146P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102490	NM_000835.6(GRIN2C):c.2815C>T (p.Arg939Trp)	GRIN2C (R939W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102489	NM_000835.6(GRIN2C):c.2659A>G (p.Ser887Gly)	GRIN2C (S887G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102488	NM_000835.6(GRIN2C):c.2625C>G (p.Ser875Arg)	GRIN2C (S875R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102487	NM_000835.6(GRIN2C):c.2624G>C (p.Ser875Thr)	GRIN2C (S875T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102486	NM_000835.6(GRIN2C):c.2573C>G (p.Ala858Gly)	GRIN2C (A858G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102485	NM_000835.6(GRIN2C):c.2456T>A (p.Phe819Tyr)	GRIN2C (F819Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102484	NM_000835.6(GRIN2C):c.2434A>G (p.Ile812Val)	GRIN2C (I812V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102483	NM_000835.6(GRIN2C):c.2311C>T (p.Arg771Trp)	GRIN2C (R771W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102482	NM_000835.6(GRIN2C):c.2029C>T (p.Pro677Ser)	GRIN2C (P677S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102481	NM_000835.6(GRIN2C):c.1969A>G (p.Ile657Val)	GRIN2C (I657V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102480	NM_000835.6(GRIN2C):c.1711G>A (p.Val571Ile)	GRIN2C (V571I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102479	NM_000835.6(GRIN2C):c.161G>A (p.Ser54Asn)	GRIN2C (S54N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102478	NM_000835.6(GRIN2C):c.1618G>A (p.Gly540Ser)	GRIN2C (G540S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102477	NM_000835.6(GRIN2C):c.157C>G (p.Gln53Glu)	GRIN2C (Q53E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102476	NM_000835.6(GRIN2C):c.145C>T (p.Arg49Cys)	GRIN2C (R49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102475	NM_000835.6(GRIN2C):c.1397C>G (p.Ala466Gly)	GRIN2C (A466G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102474	NM_000835.6(GRIN2C):c.1121G>T (p.Arg374Leu)	GRIN2C (R374L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102473	NM_000835.6(GRIN2C):c.1072A>G (p.Met358Val)	GRIN2C (M358V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052629	NM_000835.6(GRIN2C):c.3560_3580del (p.His1187_Gly1193del)	GRIN2C	Deletion (non-coding transcript variant)	GRIN2C-related disorder	GBenign
Select item 3048527	NM_000835.6(GRIN2C):c.3329G>C (p.Gly1110Ala)	GRIN2C (G1110A)	Single nucleotide variant (missense variant +1 more)	GRIN2C-related disorder	GLikely benign
Select item 3048464	NM_000835.6(GRIN2C):c.58G>C (p.Gly20Arg)	GRIN2C (G20R)	Single nucleotide variant (missense variant +1 more)	GRIN2C-related disorder	GLikely benign
Select item 3048290	NM_000835.6(GRIN2C):c.3333C>G (p.His1111Gln)	GRIN2C (H1111Q)	Single nucleotide variant (missense variant +1 more)	GRIN2C-related disorder	GLikely benign
Select item 3047243	NM_000835.6(GRIN2C):c.3547_3567dup (p.Gly1189_Arg1190insGlyProLeuGlyHisArgGly)	GRIN2C	Duplication (non-coding transcript variant)	GRIN2C-related disorder	GLikely benign
Select item 3046661	NM_000835.6(GRIN2C):c.3594_3595del (p.Tyr1198_Arg1199delinsTer)	GRIN2C	Deletion (nonsense +1 more)	GRIN2C-related disorder	GUncertain significance
Select item 2648237	NM_000835.6(GRIN2C):c.2277C>T (p.Tyr759=)	GRIN2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648236	NM_000835.6(GRIN2C):c.2328G>A (p.Ala776=)	GRIN2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2632197	NM_000835.6(GRIN2C):c.1295C>G (p.Pro432Arg)	GRIN2C (P432R)	Single nucleotide variant (missense variant +1 more)	GRIN2C-related disorder	GUncertain significance
Select item 2620497	NM_000835.6(GRIN2C):c.2234T>C (p.Leu745Pro)	GRIN2C (L745P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618969	NM_000835.6(GRIN2C):c.2069G>A (p.Arg690Gln)	GRIN2C (R690Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616426	NM_000835.6(GRIN2C):c.875G>T (p.Gly292Val)	GRIN2C (G292V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606078	NM_000835.6(GRIN2C):c.1211C>T (p.Thr404Met)	GRIN2C (T404M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603518	NM_000835.6(GRIN2C):c.545T>C (p.Val182Ala)	GRIN2C, LOC130061625 (V182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2559364	NM_000835.6(GRIN2C):c.2885C>T (p.Pro962Leu)	GRIN2C (P962L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553533	NM_000835.6(GRIN2C):c.1349C>A (p.Thr450Asn)	GRIN2C (T450N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546743	NM_000835.6(GRIN2C):c.1966T>A (p.Tyr656Asn)	GRIN2C (Y656N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539965	NM_000835.6(GRIN2C):c.2197C>G (p.Leu733Val)	GRIN2C (L733V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527509	NM_000835.6(GRIN2C):c.2890G>C (p.Asp964His)	GRIN2C (D964H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521106	NM_000835.6(GRIN2C):c.1037C>T (p.Ser346Phe)	GRIN2C (S346F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512972	NM_000835.6(GRIN2C):c.2009G>A (p.Arg670Gln)	GRIN2C (R670Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489883	NM_000835.6(GRIN2C):c.2858C>G (p.Pro953Arg)	GRIN2C (P953R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486232	NM_000835.6(GRIN2C):c.2288T>C (p.Met763Thr)	GRIN2C (M763T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480239	NM_000835.6(GRIN2C):c.1786G>A (p.Ala596Thr)	GRIN2C (A596T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403973	NM_000835.6(GRIN2C):c.1093C>T (p.Arg365Trp)	GRIN2C (R365W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402709	NM_000835.6(GRIN2C):c.1201C>T (p.Arg401Trp)	GRIN2C (R401W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392483	NM_000835.6(GRIN2C):c.2531G>A (p.Arg844His)	GRIN2C (R844H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388041	NM_000835.6(GRIN2C):c.152C>T (p.Thr51Ile)	GRIN2C (T51I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387532	NM_000835.6(GRIN2C):c.1231C>T (p.Arg411Trp)	GRIN2C (R411W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378110	NM_000835.6(GRIN2C):c.2647G>A (p.Asp883Asn)	GRIN2C (D883N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370160	NM_000835.6(GRIN2C):c.709T>C (p.Phe237Leu)	GRIN2C (F237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362608	NM_000835.6(GRIN2C):c.2093A>G (p.Asp698Gly)	GRIN2C (D698G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358905	NM_000835.6(GRIN2C):c.2858C>A (p.Pro953Gln)	GRIN2C (P953Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343083	NM_000835.6(GRIN2C):c.20C>T (p.Pro7Leu)	GRIN2C (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342986	NM_000835.6(GRIN2C):c.785C>T (p.Thr262Ile)	GRIN2C (T262I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337887	NM_000835.6(GRIN2C):c.1465G>A (p.Gly489Ser)	GRIN2C (G489S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323256	NM_000835.6(GRIN2C):c.938C>T (p.Pro313Leu)	GRIN2C (P313L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312052	NM_000835.6(GRIN2C):c.2020C>G (p.Gln674Glu)	GRIN2C (Q674E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302934	NM_000835.6(GRIN2C):c.1300C>T (p.Arg434Cys)	GRIN2C (R434C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296126	NM_000835.6(GRIN2C):c.439G>A (p.Glu147Lys)	GRIN2C (E147K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290985	NM_000835.6(GRIN2C):c.548G>A (p.Arg183His)	GRIN2C, LOC130061625 (R183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290021	NM_000835.6(GRIN2C):c.125C>A (p.Pro42His)	GRIN2C (P42H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271743	NM_000835.6(GRIN2C):c.2530C>T (p.Arg844Cys)	GRIN2C (R844C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270024	NM_000835.6(GRIN2C):c.86G>A (p.Gly29Asp)	GRIN2C (G29D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267513	NM_000835.6(GRIN2C):c.1030G>A (p.Asp344Asn)	GRIN2C (D344N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260537	NM_000835.6(GRIN2C):c.2255A>G (p.Lys752Arg)	GRIN2C (K752R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253064	NM_000835.6(GRIN2C):c.2911G>C (p.Val971Leu)	GRIN2C (V971L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229858	NM_000835.6(GRIN2C):c.346C>A (p.His116Asn)	GRIN2C (H116N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222460	NM_000835.6(GRIN2C):c.1252A>G (p.Ser418Gly)	GRIN2C (S418G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219288	NM_000835.6(GRIN2C):c.401A>C (p.Glu134Ala)	GRIN2C (E134A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218858	NM_000835.6(GRIN2C):c.670T>G (p.Phe224Val)	GRIN2C (F224V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1266094	NM_000835.6(GRIN2C):c.400-11dup	GRIN2C	Duplication (intron variant)	not provided	GBenign
Select item 789492	NM_000835.6(GRIN2C):c.1468G>A (p.Val490Ile)	GRIN2C (V490I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788830	NM_000835.6(GRIN2C):c.22G>A (p.Ala8Thr)	GRIN2C (A8T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 787992	NM_000835.6(GRIN2C):c.3587C>T (p.Thr1196Ile)	GRIN2C (T1196I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780168	NM_000835.6(GRIN2C):c.1305G>A (p.Arg435=)	GRIN2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778533	NM_000835.6(GRIN2C):c.572T>C (p.Val191Ala)	GRIN2C (V191A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 769927	NM_000835.6(GRIN2C):c.2997C>T (p.Ala999=)	GRIN2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 769223	NM_000835.6(GRIN2C):c.99C>T (p.Ala33=)	GRIN2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768915	NM_000835.6(GRIN2C):c.140G>A (p.Arg47His)	GRIN2C (R47H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 731067	NM_000835.6(GRIN2C):c.1557C>T (p.Ile519=)	GRIN2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 728980	NM_000835.6(GRIN2C):c.1202G>A (p.Arg401Gln)	GRIN2C (R401Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718638	NM_000835.6(GRIN2C):c.193C>T (p.Leu65Phe)	GRIN2C (L65F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2