ClinVar for Gene (Select 64221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362580	NM_022370.4(ROBO3):c.403_404del (p.Arg135fs)	ROBO3 (R135fs)	Microsatellite (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 3361530	NM_022370.4(ROBO3):c.398G>C (p.Arg133Pro)	ROBO3 (R133P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358529	NM_022370.4(ROBO3):c.1951+3A>G	ROBO3	Single nucleotide variant (intron variant)	ROBO3-related disorder	GLikely benign
Select item 3356219	NM_022370.4(ROBO3):c.2899C>T (p.Pro967Ser)	ROBO3 (P16S +1 more)	Single nucleotide variant (missense variant +1 more)	ROBO3-related disorder	GUncertain significance
Select item 3354963	NM_022370.4(ROBO3):c.2054C>G (p.Thr685Ser)	ROBO3 (T685S)	Single nucleotide variant (missense variant)	ROBO3-related disorder	GUncertain significance
Select item 3352514	NM_022370.4(ROBO3):c.1616G>A (p.Arg539Gln)	ROBO3 (R539Q)	Single nucleotide variant (missense variant)	ROBO3-related disorder	GUncertain significance
Select item 3346331	NM_022370.4(ROBO3):c.300C>T (p.Asn100=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
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 3315004	NM_022370.4(ROBO3):c.968C>A (p.Thr323Lys)	ROBO3 (T323K)	Single nucleotide variant (missense variant)	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 3315002	NM_022370.4(ROBO3):c.4018A>C (p.Thr1340Pro)	ROBO3 (T1340P +2 more)	Single nucleotide variant (missense variant +1 more)	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 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 3314999	NM_022370.4(ROBO3):c.1675C>G (p.Pro559Ala)	ROBO3 (P559A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3314995	NM_022370.4(ROBO3):c.1868C>A (p.Thr623Asn)	ROBO3 (T623N)	Single nucleotide variant (missense variant)	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 3155639	NM_022370.4(ROBO3):c.818C>T (p.Ala273Val)	ROBO3 (A273V)	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 3155637	NM_022370.4(ROBO3):c.571C>G (p.Arg191Gly)	ROBO3 (R191G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155636	NM_022370.4(ROBO3):c.4094G>A (p.Arg1365Gln)	ROBO3 (R1365Q +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
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 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 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 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 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 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 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 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 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 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 3155620	NM_022370.4(ROBO3):c.2264A>T (p.Glu755Val)	ROBO3 (E755V)	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 3155618	NM_022370.4(ROBO3):c.1900G>A (p.Ala634Thr)	ROBO3 (A634T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3155616	NM_022370.4(ROBO3):c.1628G>A (p.Gly543Glu)	ROBO3 (G543E)	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 3155613	NM_022370.4(ROBO3):c.1529A>G (p.Asn510Ser)	ROBO3 (N510S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3064172	NM_022370.4(ROBO3):c.3937C>T (p.Gln1313Ter)	ROBO3 (Q1313* +2 more)	Single nucleotide variant (nonsense +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3053294	NM_022370.4(ROBO3):c.2308_2310delinsTGT (p.Gly770Cys)	ROBO3 (G770C)	Indel (missense variant)	ROBO3-related disorder	GUncertain significance
Select item 3053078	NM_022370.4(ROBO3):c.819C>T (p.Ala273=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 3047232	NM_022370.4(ROBO3):c.3056A>G (p.Tyr1019Cys)	ROBO3 (Y1019C +1 more)	Single nucleotide variant (missense variant +2 more)	ROBO3-related disorder	GUncertain significance
Select item 3046546	NM_022370.4(ROBO3):c.225C>T (p.Val75=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 3044846	NM_022370.4(ROBO3):c.91T>C (p.Leu31=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 3036923	NM_022370.4(ROBO3):c.906-3C>T	ROBO3	Single nucleotide variant (intron variant)	ROBO3-related disorder	GLikely benign
Select item 3031708	NM_022370.4(ROBO3):c.2706G>A (p.Gly902=)	ROBO3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3026017	NM_022370.4(ROBO3):c.1524C>T (p.Ile508=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689880	NM_022370.4(ROBO3):c.3932C>T (p.Ala1311Val)	ROBO3 (A1311V +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2663329	NM_022370.4(ROBO3):c.1322T>G (p.Ile441Arg)	ROBO3 (I441R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662222	NM_022370.4(ROBO3):c.2704G>A (p.Gly902Arg)	ROBO3 (G902R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2642501	NM_022370.4(ROBO3):c.2865C>A (p.Gly955=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642500	NM_022370.4(ROBO3):c.916C>A (p.Arg306=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642499	NM_022370.4(ROBO3):c.744G>A (p.Ala248=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637325	NM_022370.4(ROBO3):c.449G>A (p.Gly150Glu)	ROBO3 (G150E)	Single nucleotide variant (missense variant)	ROBO3-related disorder	GUncertain significance
Select item 2637036	NM_022370.4(ROBO3):c.2146T>G (p.Trp716Gly)	ROBO3 (W716G)	Single nucleotide variant (missense variant)	ROBO3-related disorder	GUncertain significance
Select item 2636518	NM_022370.4(ROBO3):c.2801del (p.Ala934fs)	ROBO3 (A934fs)	Deletion (5 prime UTR variant +3 more)	ROBO3-related disorder	GLikely pathogenic
Select item 2629002	NM_022370.4(ROBO3):c.228_245del (p.Arg77_Thr82del)	ROBO3	Deletion (inframe_deletion)	ROBO3-related disorder	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 2618116	NM_022370.4(ROBO3):c.565C>A (p.Pro189Thr)	ROBO3 (P189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2616135	NM_022370.4(ROBO3):c.34A>C (p.Met12Leu)	ROBO3 (M12L)	Single nucleotide variant (missense variant)	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 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 2602556	NM_022370.4(ROBO3):c.4028C>T (p.Thr1343Met)	ROBO3 (T327M +2 more)	Single nucleotide variant (missense variant +1 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 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 2589510	NM_022370.4(ROBO3):c.3896G>A (p.Ser1299Asn)	ROBO3 (S1299N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585490	NM_022370.4(ROBO3):c.3493C>T (p.Gln1165Ter)	ROBO3 (Q149* +2 more)	Single nucleotide variant (nonsense +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
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 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 2553546	NM_022370.4(ROBO3):c.1507A>C (p.Asn503His)	ROBO3 (N503H)	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 2549003	NM_022370.4(ROBO3):c.1750G>A (p.Ala584Thr)	ROBO3 (A584T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2539406	NM_022370.4(ROBO3):c.1531G>A (p.Val511Met)	ROBO3 (V511M)	Single nucleotide variant (missense variant)	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 2528298	NM_022370.4(ROBO3):c.722T>C (p.Met241Thr)	ROBO3 (M241T)	Single nucleotide variant (missense variant)	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 2516287	NM_022370.4(ROBO3):c.4145G>T (p.Arg1382Leu)	ROBO3 (R1382L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2478091	NM_022370.4(ROBO3):c.4139A>C (p.Lys1380Thr)	ROBO3 (K429T +2 more)	Single nucleotide variant (missense variant +1 more)	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 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 2461370	NM_022370.4(ROBO3):c.793G>A (p.Val265Met)	ROBO3 (V265M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	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 2398853	NM_022370.4(ROBO3):c.520A>G (p.Asn174Asp)	ROBO3 (N174D)	Single nucleotide variant (missense variant)	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 2393812	NM_022370.4(ROBO3):c.3911C>T (p.Ala1304Val)	ROBO3 (A353V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 2379107	NM_022370.4(ROBO3):c.4132G>C (p.Gly1378Arg)	ROBO3 (G1378R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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