RAI2[gene] and "single gene"[properties] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2229083	NM_021785.6(RAI2):c.1582C>T (p.Pro528Ser)	RAI2 (P478S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296188	NM_021785.6(RAI2):c.1522G>A (p.Val508Met)	RAI2 (V508M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151229	NM_021785.6(RAI2):c.1430G>A (p.Gly477Asp)	RAI2 (G477D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519535	NM_021785.6(RAI2):c.1428G>T (p.Gln476His)	RAI2 (Q476H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151228	NM_021785.6(RAI2):c.1420G>C (p.Val474Leu)	RAI2 (V424L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589583	NM_021785.6(RAI2):c.1409G>C (p.Arg470Thr)	RAI2 (R420T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740738	NM_021785.6(RAI2):c.1386C>T (p.Ser462=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3312572	NM_021785.6(RAI2):c.1379G>A (p.Gly460Glu)	RAI2 (G410E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612161	NM_021785.6(RAI2):c.1354T>C (p.Cys452Arg)	RAI2 (C452R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312571	NM_021785.6(RAI2):c.1297G>A (p.Glu433Lys)	RAI2 (E383K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151227	NM_021785.6(RAI2):c.1282A>T (p.Ile428Phe)	RAI2 (I378F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719850	NM_021785.6(RAI2):c.1263A>G (p.Glu421=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2410495	NM_021785.6(RAI2):c.1243C>G (p.Pro415Ala)	RAI2 (P415A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600889	NM_021785.6(RAI2):c.1228G>A (p.Glu410Lys)	RAI2 (E410K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151226	NM_021785.6(RAI2):c.1218T>G (p.Asp406Glu)	RAI2 (D356E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151225	NM_021785.6(RAI2):c.1202A>T (p.His401Leu)	RAI2 (H401L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613410	NM_021785.6(RAI2):c.1186G>A (p.Ala396Thr)	RAI2 (A346T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624078	NM_021785.6(RAI2):c.1184C>G (p.Pro395Arg)	RAI2 (P395R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312575	NM_021785.6(RAI2):c.1178A>C (p.Glu393Ala)	RAI2 (E393A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526296	NM_021785.6(RAI2):c.1176T>G (p.His392Gln)	RAI2 (H342Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542177	NM_021785.6(RAI2):c.1165G>C (p.Ala389Pro)	RAI2 (A339P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257871	NM_021785.6(RAI2):c.1157T>C (p.Phe386Ser)	RAI2 (F336S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404537	NM_021785.6(RAI2):c.1052G>A (p.Arg351Gln)	RAI2 (R301Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249759	NM_021785.6(RAI2):c.1039G>C (p.Val347Leu)	RAI2 (V347L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3312574	NM_021785.6(RAI2):c.1017A>C (p.Glu339Asp)	RAI2 (E339D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558448	NM_021785.6(RAI2):c.1006A>G (p.Ile336Val)	RAI2 (I286V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788342	NM_021785.6(RAI2):c.1002C>A (p.Pro334=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2313628	NM_021785.6(RAI2):c.956T>G (p.Leu319Arg)	RAI2 (L269R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219097	NM_021785.6(RAI2):c.917C>T (p.Thr306Met)	RAI2 (T306M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311598	NM_021785.6(RAI2):c.911G>A (p.Arg304His)	RAI2 (R304H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151232	NM_021785.6(RAI2):c.880C>T (p.Leu294Phe)	RAI2 (L294F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464596	NM_021785.6(RAI2):c.821A>C (p.His274Pro)	RAI2 (H274P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660092	NM_021785.6(RAI2):c.816C>T (p.Gly272=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784563	NM_021785.6(RAI2):c.813C>T (p.Phe271=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780685	NM_021785.6(RAI2):c.773C>T (p.Ser258Phe)	RAI2 (S208F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 545561	NM_021785.6(RAI2):c.712G>A (p.Val238Ile)	RAI2 (V238I +1 more)	Single nucleotide variant (missense variant +1 more)	Dextrocardia	GUncertain significance
Select item 3151231	NM_021785.6(RAI2):c.665C>G (p.Ser222Cys)	RAI2 (S222C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554550	NM_021785.6(RAI2):c.664T>C (p.Ser222Pro)	RAI2 (S222P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232630	NM_021785.6(RAI2):c.640C>T (p.Pro214Ser)	RAI2 (P164S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660093	NM_021785.6(RAI2):c.623_634del (p.Gly208_Pro211del)	RAI2	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2290245	NM_021785.6(RAI2):c.614C>G (p.Pro205Arg)	RAI2 (P205R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312576	NM_021785.6(RAI2):c.607T>C (p.Cys203Arg)	RAI2 (C153R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660094	NM_021785.6(RAI2):c.531G>A (p.Pro177=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737181	NM_021785.6(RAI2):c.531G>T (p.Pro177=)	RAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2493336	NM_021785.6(RAI2):c.526C>A (p.Gln176Lys)	RAI2 (Q126K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470230	NM_021785.6(RAI2):c.463C>T (p.Leu155Phe)	RAI2 (L155F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487670	NM_021785.6(RAI2):c.438C>G (p.Cys146Trp)	RAI2 (C96W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151230	NM_021785.6(RAI2):c.337G>A (p.Val113Ile)	RAI2 (V113I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727508	NM_021785.6(RAI2):c.222G>A (p.Ala74=)	RAI2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3312573	NM_021785.6(RAI2):c.148C>G (p.Leu50Val)	RAI2 (L50V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312577	NM_021785.6(RAI2):c.14A>C (p.Gln5Pro)	RAI2 (Q5P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 51