GRB14[gene] and "single gene"[properties] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2281835	NM_004490.3(GRB14):c.1526G>A (p.Arg509Lys)	GRB14 (R509K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102219	NM_004490.3(GRB14):c.1522A>G (p.Thr508Ala)	GRB14 (T421A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616608	NM_004490.3(GRB14):c.1493A>C (p.Glu498Ala)	GRB14 (E411A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252630	NM_004490.3(GRB14):c.1474C>T (p.Pro492Ser)	GRB14 (P492S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320137	NM_004490.3(GRB14):c.1435A>G (p.Met479Val)	GRB14 (M392V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282616	NM_004490.3(GRB14):c.1397G>A (p.Arg466Gln)	GRB14 (R466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337798	NM_004490.3(GRB14):c.1373T>C (p.Leu458Pro)	GRB14 (L458P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102218	NM_004490.3(GRB14):c.1301A>G (p.His434Arg)	GRB14 (H347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370800	NM_004490.3(GRB14):c.1268C>A (p.Ser423Tyr)	GRB14 (S336Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347555	NM_004490.3(GRB14):c.1265C>T (p.Ala422Val)	GRB14 (A335V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315590	NM_004490.3(GRB14):c.1246A>G (p.Thr416Ala)	GRB14 (T329A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361612	NM_004490.3(GRB14):c.1238G>A (p.Arg413His)	GRB14 (R413H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519042	NM_004490.3(GRB14):c.1237C>T (p.Arg413Cys)	GRB14 (R413C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471865	NM_004490.3(GRB14):c.1223A>G (p.Lys408Arg)	GRB14 (K321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320385	NM_004490.3(GRB14):c.1147G>A (p.Gly383Ser)	GRB14 (G296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779408	NM_004490.3(GRB14):c.1077C>T (p.Gly359=)	GRB14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593490	NM_004490.3(GRB14):c.1006G>A (p.Ala336Thr)	GRB14 (A336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228417	NM_004490.3(GRB14):c.992C>T (p.Thr331Met)	GRB14 (T244M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102228	NM_004490.3(GRB14):c.976G>C (p.Glu326Gln)	GRB14 (E239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247109	NM_004490.3(GRB14):c.967T>C (p.Cys323Arg)	GRB14 (C236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542777	NM_004490.3(GRB14):c.962T>A (p.Met321Lys)	GRB14 (M321K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102227	NM_004490.3(GRB14):c.901C>G (p.Pro301Ala)	GRB14 (P214A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243158	NM_004490.3(GRB14):c.901C>T (p.Pro301Ser)	GRB14 (P214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230822	NM_004490.3(GRB14):c.844G>A (p.Glu282Lys)	GRB14 (E195K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376141	NM_004490.3(GRB14):c.751T>C (p.Trp251Arg)	GRB14 (W164R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395159	NM_004490.3(GRB14):c.739G>A (p.Gly247Arg)	GRB14 (G247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495242	NM_004490.3(GRB14):c.725A>G (p.His242Arg)	GRB14 (H242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102226	NM_004490.3(GRB14):c.675G>T (p.Leu225Phe)	GRB14 (L225F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476942	NM_004490.3(GRB14):c.646A>C (p.Asn216His)	GRB14 (N216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102225	NM_004490.3(GRB14):c.601A>G (p.Met201Val)	GRB14 (M114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102224	NM_004490.3(GRB14):c.584A>T (p.Glu195Val)	GRB14 (E108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102223	NM_004490.3(GRB14):c.572A>G (p.Tyr191Cys)	GRB14 (Y104C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102222	NM_004490.3(GRB14):c.569A>G (p.Asn190Ser)	GRB14 (N103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282617	NM_004490.3(GRB14):c.556T>C (p.Tyr186His)	GRB14 (Y186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507598	NM_004490.3(GRB14):c.444C>G (p.Ser148Arg)	GRB14 (S61R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596465	NM_004490.3(GRB14):c.434A>G (p.Asp145Gly)	GRB14 (D145G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102220	NM_004490.3(GRB14):c.357C>G (p.Ser119Arg)	GRB14 (S32R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538212	NM_004490.3(GRB14):c.340A>G (p.Ser114Gly)	GRB14 (S27G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288974	NM_004490.3(GRB14):c.321A>T (p.Lys107Asn)	GRB14 (K107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311683	NM_004490.3(GRB14):c.307A>C (p.Asn103His)	GRB14 (N103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298408	NM_004490.3(GRB14):c.301A>G (p.Lys101Glu)	GRB14 (K101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282615	NM_004490.3(GRB14):c.251A>G (p.Glu84Gly)	GRB14 (E84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274115	NM_004490.3(GRB14):c.138C>A (p.His46Gln)	GRB14 (H46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461081	NM_004490.3(GRB14):c.127C>G (p.Pro43Ala)	GRB14 (P43A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490469	NM_004490.3(GRB14):c.125C>T (p.Ala42Val)	GRB14 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387826	NM_004490.3(GRB14):c.76G>A (p.Val26Met)	GRB14 (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808577	GRCh37/hg19 2q24.3(chr2:165285591-165451353)x1	GRB14	Copy number loss	not provided	GUncertain significance
Select item 1340856	GRCh37/hg19 2q24.3(chr2:165456832-165520690)x1	GRB14	Copy number loss	not provided	GLikely benign
Select item 1340026	GRCh37/hg19 2q24.3(chr2:165444430-165536546)x1	GRB14	Copy number loss	not provided	GUncertain significance
Select item 624467	GRCh37/hg19 2q24.3(chr2:165369716-165537572)x1	GRB14	Copy number loss	not provided	GUncertain significance

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Items: 50