"Ambry Genetics"[submitter] AND "ROBO3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2268975	NM_022370.4(ROBO3):c.19A>C (p.Lys7Gln)	ROBO3 (K7Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616135	NM_022370.4(ROBO3):c.34A>C (p.Met12Leu)	ROBO3 (M12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303218	NM_022370.4(ROBO3):c.43T>C (p.Phe15Leu)	ROBO3 (F15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2345637	NM_022370.4(ROBO3):c.76T>C (p.Ser26Pro)	ROBO3 (S26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155617	NM_022370.4(ROBO3):c.169G>A (p.Val57Ile)	ROBO3 (V57I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278036	NM_022370.4(ROBO3):c.176C>T (p.Pro59Leu)	ROBO3 (P59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473660	NM_022370.4(ROBO3):c.466A>C (p.Asn156His)	ROBO3 (N156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398853	NM_022370.4(ROBO3):c.520A>G (p.Asn174Asp)	ROBO3 (N174D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632150	NM_022370.4(ROBO3):c.571dup (p.Arg191fs)	ROBO3 (R191fs)	Duplication (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 2618116	NM_022370.4(ROBO3):c.565C>A (p.Pro189Thr)	ROBO3 (P189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155637	NM_022370.4(ROBO3):c.571C>G (p.Arg191Gly)	ROBO3 (R191G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256352	NM_022370.4(ROBO3):c.578A>G (p.His193Arg)	ROBO3 (H193R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155638	NM_022370.4(ROBO3):c.709G>A (p.Val237Ile)	ROBO3 (V237I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314310	NM_022370.4(ROBO3):c.710T>A (p.Val237Glu)	ROBO3 (V237E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528298	NM_022370.4(ROBO3):c.722T>C (p.Met241Thr)	ROBO3 (M241T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303229	NM_022370.4(ROBO3):c.769C>T (p.Arg257Cys)	ROBO3 (R257C)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GUncertain significance
Select item 2461370	NM_022370.4(ROBO3):c.793G>A (p.Val265Met)	ROBO3 (V265M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155639	NM_022370.4(ROBO3):c.818C>T (p.Ala273Val)	ROBO3 (A273V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303230	NM_022370.4(ROBO3):c.850G>A (p.Asp284Asn)	ROBO3 (D284N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3315004	NM_022370.4(ROBO3):c.968C>A (p.Thr323Lys)	ROBO3 (T323K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303231	NM_022370.4(ROBO3):c.968C>T (p.Thr323Met)	ROBO3 (T323M)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 2617771	NM_022370.4(ROBO3):c.1150G>A (p.Gly384Arg)	ROBO3 (G384R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552442	NM_022370.4(ROBO3):c.1151G>A (p.Gly384Glu)	ROBO3 (G384E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155612	NM_022370.4(ROBO3):c.1234A>G (p.Thr412Ala)	ROBO3 (T412A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291353	NM_022370.4(ROBO3):c.1237G>A (p.Ala413Thr)	ROBO3 (A413T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255982	NM_022370.4(ROBO3):c.1494C>A (p.Phe498Leu)	ROBO3 (F498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2553546	NM_022370.4(ROBO3):c.1507A>C (p.Asn503His)	ROBO3 (N503H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155613	NM_022370.4(ROBO3):c.1529A>G (p.Asn510Ser)	ROBO3 (N510S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2539406	NM_022370.4(ROBO3):c.1531G>A (p.Val511Met)	ROBO3 (V511M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155614	NM_022370.4(ROBO3):c.1539G>C (p.Glu513Asp)	ROBO3 (E513D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303240	NM_022370.4(ROBO3):c.1542G>A (p.Met514Ile)	ROBO3 (M514I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2544065	NM_022370.4(ROBO3):c.1564G>A (p.Val522Met)	ROBO3 (V522M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155616	NM_022370.4(ROBO3):c.1628G>A (p.Gly543Glu)	ROBO3 (G543E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213905	NM_022370.4(ROBO3):c.1667C>T (p.Pro556Leu)	ROBO3 (P556L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314999	NM_022370.4(ROBO3):c.1675C>G (p.Pro559Ala)	ROBO3 (P559A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549003	NM_022370.4(ROBO3):c.1750G>A (p.Ala584Thr)	ROBO3 (A584T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372839	NM_022370.4(ROBO3):c.1825G>A (p.Val609Met)	ROBO3 (V609M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314995	NM_022370.4(ROBO3):c.1868C>A (p.Thr623Asn)	ROBO3 (T623N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155618	NM_022370.4(ROBO3):c.1900G>A (p.Ala634Thr)	ROBO3 (A634T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314754	NM_022370.4(ROBO3):c.1906G>T (p.Gly636Cys)	ROBO3 (G636C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368404	NM_022370.4(ROBO3):c.1943G>A (p.Arg648His)	ROBO3 (R648H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 225079	NM_022370.4(ROBO3):c.2020C>T (p.Arg674Cys)	ROBO3 (R674C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2208855	NM_022370.4(ROBO3):c.2036T>C (p.Ile679Thr)	ROBO3 (I679T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303248	NM_022370.4(ROBO3):c.2048C>T (p.Pro683Leu)	ROBO3 (P683L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2366591	NM_022370.4(ROBO3):c.2051G>A (p.Arg684Gln)	ROBO3 (R684Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315001	NM_022370.4(ROBO3):c.2071A>G (p.Thr691Ala)	ROBO3 (T691A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155619	NM_022370.4(ROBO3):c.2093T>C (p.Leu698Pro)	ROBO3 (L698P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299506	NM_022370.4(ROBO3):c.2167T>A (p.Ser723Thr)	ROBO3 (S723T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299507	NM_022370.4(ROBO3):c.2168C>A (p.Ser723Tyr)	ROBO3 (S723Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320145	NM_022370.4(ROBO3):c.2222A>C (p.Gln741Pro)	ROBO3 (Q741P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320146	NM_022370.4(ROBO3):c.2223G>C (p.Gln741His)	ROBO3 (Q741H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155620	NM_022370.4(ROBO3):c.2264A>T (p.Glu755Val)	ROBO3 (E755V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253047	NM_022370.4(ROBO3):c.2287A>G (p.Ile763Val)	ROBO3 (I763V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271248	NM_022370.4(ROBO3):c.2339G>A (p.Gly780Glu)	ROBO3 (G780E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155621	NM_022370.4(ROBO3):c.2648G>A (p.Arg883Gln)	LOC130007006, ROBO3 (R883Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155623	NM_022370.4(ROBO3):c.2668G>C (p.Glu890Gln)	LOC130007006, ROBO3 (E890Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155622	NM_022370.4(ROBO3):c.2668G>A (p.Glu890Lys)	LOC130007006, ROBO3 (E890K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3155624	NM_022370.4(ROBO3):c.2672C>T (p.Pro891Leu)	LOC130007006, ROBO3 (P891L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3314996	NM_022370.4(ROBO3):c.2693G>T (p.Gly898Val)	LOC130007006, ROBO3 (G898V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 878383	NM_022370.4(ROBO3):c.2699C>T (p.Ala900Val)	ROBO3 (A900V)	Single nucleotide variant (5 prime UTR variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GUncertain significance
Select item 3314997	NM_022370.4(ROBO3):c.2707G>T (p.Ala903Ser)	ROBO3 (A903S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596002	NM_022370.4(ROBO3):c.2707G>A (p.Ala903Thr)	ROBO3 (A903T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3315000	NM_022370.4(ROBO3):c.2711T>C (p.Leu904Pro)	ROBO3 (L904P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3315003	NM_022370.4(ROBO3):c.2773T>C (p.Tyr925His)	ROBO3 (Y925H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236548	NM_022370.4(ROBO3):c.2777C>T (p.Thr926Met)	ROBO3 (T926M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594430	NM_022370.4(ROBO3):c.2792A>G (p.Tyr931Cys)	ROBO3 (Y931C)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2394037	NM_022370.4(ROBO3):c.2870C>T (p.Ala957Val)	ROBO3 (A957V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155626	NM_022370.4(ROBO3):c.2872C>A (p.Pro958Thr)	ROBO3 (P7T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221253	NM_022370.4(ROBO3):c.2881T>G (p.Trp961Gly)	ROBO3 (W961G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604885	NM_022370.4(ROBO3):c.2905C>G (p.Pro969Ala)	ROBO3 (P18A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570320	NM_022370.4(ROBO3):c.2970C>G (p.Asp990Glu)	ROBO3 (D990E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323391	NM_022370.4(ROBO3):c.3016A>G (p.Thr1006Ala)	ROBO3 (T1006A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155627	NM_022370.4(ROBO3):c.3038C>T (p.Pro1013Leu)	ROBO3 (P62L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155628	NM_022370.4(ROBO3):c.3112C>A (p.Gln1038Lys)	ROBO3 (Q1038K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321627	NM_022370.4(ROBO3):c.3113A>G (p.Gln1038Arg)	ROBO3 (Q87R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155629	NM_022370.4(ROBO3):c.3127G>A (p.Asp1043Asn)	ROBO3 (D92N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2377986	NM_022370.4(ROBO3):c.3143G>T (p.Ser1048Ile)	ROBO3 (S1048I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155630	NM_022370.4(ROBO3):c.3193G>A (p.Gly1065Ser)	ROBO3 (G114S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291079	NM_022370.4(ROBO3):c.3205C>T (p.Leu1069Phe)	ROBO3 (L118F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262039	NM_022370.4(ROBO3):c.3260C>T (p.Pro1087Leu)	ROBO3 (P71L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404873	NM_022370.4(ROBO3):c.3371C>T (p.Thr1124Met)	ROBO3 (T1124M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283190	NM_022370.4(ROBO3):c.3374A>G (p.Glu1125Gly)	ROBO3 (E1125G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238388	NM_022370.4(ROBO3):c.3418G>A (p.Glu1140Lys)	ROBO3 (E124K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465717	NM_022370.4(ROBO3):c.3436C>T (p.Pro1146Ser)	ROBO3 (P1146S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618216	NM_022370.4(ROBO3):c.3496C>T (p.Pro1166Ser)	ROBO3 (P150S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615274	NM_022370.4(ROBO3):c.3528G>A (p.Met1176Ile)	ROBO3 (M1176I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523719	NM_022370.4(ROBO3):c.3529C>G (p.Pro1177Ala)	ROBO3 (P1177A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314994	NM_022370.4(ROBO3):c.3551C>G (p.Pro1184Arg)	ROBO3 (P1184R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155632	NM_022370.4(ROBO3):c.3551C>T (p.Pro1184Leu)	ROBO3 (P233L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155633	NM_022370.4(ROBO3):c.3565A>G (p.Ser1189Gly)	ROBO3 (S173G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350248	NM_022370.4(ROBO3):c.3599C>T (p.Ala1200Val)	ROBO3 (A184V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325304	NM_022370.4(ROBO3):c.3626C>A (p.Pro1209His)	ROBO3 (P1209H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557578	NM_022370.4(ROBO3):c.3637C>T (p.Pro1213Ser)	ROBO3 (P262S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529983	NM_022370.4(ROBO3):c.3641A>T (p.His1214Leu)	ROBO3 (H1214L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338947	NM_022370.4(ROBO3):c.3737G>A (p.Arg1246His)	ROBO3 (R295H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315005	NM_022370.4(ROBO3):c.3793G>A (p.Gly1265Arg)	ROBO3 (G314R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 878435	NM_022370.4(ROBO3):c.3836C>T (p.Ala1279Val)	ROBO3 (A1279V +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 2207062	NM_022370.4(ROBO3):c.3848T>G (p.Leu1283Arg)	ROBO3 (L267R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383267	NM_022370.4(ROBO3):c.3871A>G (p.Met1291Val)	ROBO3 (M340V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155634	NM_022370.4(ROBO3):c.3887G>A (p.Arg1296Gln)	ROBO3 (R1296Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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