"Illumina Laboratory Services, Illumina"[submitter] AND "ROBO3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303216	NM_022370.4(ROBO3):c.-120G>C	ROBO3	Single nucleotide variant (5 prime UTR variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303217	NM_022370.4(ROBO3):c.-60G>T	ROBO3	Single nucleotide variant (5 prime UTR variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	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 303219	NM_022370.4(ROBO3):c.46G>A (p.Ala16Thr)	ROBO3 (A16T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 303220	NM_022370.4(ROBO3):c.160+12C>T	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely benign
Select item 303221	NM_022370.4(ROBO3):c.468C>T (p.Asn156=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303222	NM_022370.4(ROBO3):c.488-14A>C	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
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 303223	NM_022370.4(ROBO3):c.567C>T (p.Pro189=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 303224	NM_022370.4(ROBO3):c.592G>A (p.Val198Met)	ROBO3 (V198M)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880104	NM_022370.4(ROBO3):c.630G>A (p.Glu210=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303225	NM_022370.4(ROBO3):c.637A>C (p.Arg213=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 880105	NM_022370.4(ROBO3):c.646-11T>G	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303226	NM_022370.4(ROBO3):c.716C>T (p.Ser239Phe)	ROBO3 (S239F)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303227	NM_022370.4(ROBO3):c.726G>C (p.Ala242=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
Select item 2184	NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)	ROBO3 (R245W)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GConflicting classifications of pathogenicity
Select item 303228	NM_022370.4(ROBO3):c.764T>C (p.Leu255Pro)	ROBO3 (L255P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	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 877305	NM_022370.4(ROBO3):c.770G>A (p.Arg257His)	ROBO3 (R257H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	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 303231	NM_022370.4(ROBO3):c.968C>T (p.Thr323Met)	ROBO3 (T323M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 303232	NM_022370.4(ROBO3):c.1034-13C>G	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303233	NM_022370.4(ROBO3):c.1104C>T (p.Cys368=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303234	NM_022370.4(ROBO3):c.1189C>A (p.Pro397Thr)	ROBO3 (P397T)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
Select item 78246	NM_022370.4(ROBO3):c.1189C>T (p.Pro397Ser)	ROBO3 (P397S)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 747318	NM_022370.4(ROBO3):c.1194G>A (p.Thr398=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303235	NM_022370.4(ROBO3):c.1247G>A (p.Arg416His)	ROBO3 (R416H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303236	NM_022370.4(ROBO3):c.1267G>A (p.Val423Met)	ROBO3 (V423M)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303237	NM_022370.4(ROBO3):c.1331-3C>T	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
Select item 632151	NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg)	ROBO3 (Q460R)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GConflicting classifications of pathogenicity
Select item 303238	NM_022370.4(ROBO3):c.1485C>A (p.Asp495Glu)	ROBO3 (D495E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 303239	NM_022370.4(ROBO3):c.1515C>T (p.Thr505=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303240	NM_022370.4(ROBO3):c.1542G>A (p.Met514Ile)	ROBO3 (M514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 303241	NM_022370.4(ROBO3):c.1615C>T (p.Arg539Trp)	ROBO3 (R539W)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
Select item 303242	NM_022370.4(ROBO3):c.1617G>A (p.Arg539=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 878340	NM_022370.4(ROBO3):c.1619-9C>T	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 878925	NM_022370.4(ROBO3):c.1634C>T (p.Ser545Leu)	ROBO3 (S545L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303243	NM_022370.4(ROBO3):c.1720C>T (p.Leu574=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 303244	NM_022370.4(ROBO3):c.1752T>G (p.Ala584=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878926	NM_022370.4(ROBO3):c.1805G>T (p.Trp602Leu)	ROBO3 (W602L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 878927	NM_022370.4(ROBO3):c.1808G>A (p.Arg603His)	ROBO3 (R603H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303245	NM_022370.4(ROBO3):c.1824C>T (p.Gly608=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303246	NM_022370.4(ROBO3):c.1852G>A (p.Gly618Ser)	ROBO3 (G618S)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GBenign
Select item 878928	NM_022370.4(ROBO3):c.1953T>C (p.Asp651=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303247	NM_022370.4(ROBO3):c.1957A>C (p.Ser653Arg)	ROBO3 (S653R)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880146	NM_022370.4(ROBO3):c.2007G>A (p.Ala669=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 225079	NM_022370.4(ROBO3):c.2020C>T (p.Arg674Cys)	ROBO3 (R674C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 880147	NM_022370.4(ROBO3):c.2061G>C (p.Gln687His)	ROBO3 (Q687H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303249	NM_022370.4(ROBO3):c.2102G>T (p.Gly701Val)	ROBO3 (G701V)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303250	NM_022370.4(ROBO3):c.2183G>A (p.Ser728Asn)	ROBO3 (S728N)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 880148	NM_022370.4(ROBO3):c.2308G>T (p.Gly770Cys)	ROBO3 (G770C)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303251	NM_022370.4(ROBO3):c.2310C>T (p.Gly770=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 632152	NM_022370.4(ROBO3):c.2329dup (p.Val777fs)	ROBO3 (V777fs)	Duplication (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303252	NM_022370.4(ROBO3):c.2328G>A (p.Ala776=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 716324	NM_022370.4(ROBO3):c.2472A>C (p.Ala824=)	LOC124625862, ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 303253	NM_022370.4(ROBO3):c.2504T>C (p.Leu835Pro)	LOC124625862, ROBO3 (L835P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303254	NM_022370.4(ROBO3):c.2511C>G (p.Pro837=)	LOC124625862, ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 877358	NM_022370.4(ROBO3):c.2515C>A (p.Leu839Ile)	LOC124625862, ROBO3 (L839I)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303255	NM_022370.4(ROBO3):c.2603C>T (p.Pro868Leu)	LOC130007006, ROBO3 (P868L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 303256	NM_022370.4(ROBO3):c.2621T>A (p.Leu874Gln)	LOC130007006, ROBO3 (L874Q)	Single nucleotide variant (5 prime UTR variant +2 more)	ROBO3-related condition +2 more	GBenign/Likely benign
Select item 303257	NM_022370.4(ROBO3):c.2697A>G (p.Ala899=)	ROBO3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 878383	NM_022370.4(ROBO3):c.2699C>T (p.Ala900Val)	ROBO3 (A900V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 303258	NM_022370.4(ROBO3):c.2763G>C (p.Glu921Asp)	ROBO3 (E921D)	Single nucleotide variant (5 prime UTR variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GLikely benign
Select item 303259	NM_022370.4(ROBO3):c.2779+9C>T	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 878384	NM_022370.4(ROBO3):c.2879C>T (p.Ser960Leu)	ROBO3 (S9L +1 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303260	NM_022370.4(ROBO3):c.2931A>T (p.Glu977Asp)	ROBO3 (E977D +1 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303261	NM_022370.4(ROBO3):c.2947T>C (p.Cys983Arg)	ROBO3 (C983R +1 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303262	NM_022370.4(ROBO3):c.2991G>A (p.Ala997=)	ROBO3	Single nucleotide variant (synonymous variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303263	NM_022370.4(ROBO3):c.2993G>T (p.Gly998Val)	ROBO3 (G998V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 878972	NM_022370.4(ROBO3):c.3042C>T (p.Gly1014=)	ROBO3	Single nucleotide variant (synonymous variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303264	NM_022370.4(ROBO3):c.3091A>C (p.Thr1031Pro)	ROBO3 (T1031P +1 more)	Single nucleotide variant (missense variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303265	NM_022370.4(ROBO3):c.3139T>G (p.Trp1047Gly)	ROBO3 (W1047G +1 more)	Single nucleotide variant (missense variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303266	NM_022370.4(ROBO3):c.3182-5_3182-3del	ROBO3	Microsatellite (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely benign
Select item 303267	NM_022370.4(ROBO3):c.3184G>A (p.Ala1062Thr)	ROBO3 (A1062T +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 878973	NM_022370.4(ROBO3):c.3275G>C (p.Cys1092Ser)	ROBO3 (C141S +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880197	NM_022370.4(ROBO3):c.3300G>C (p.Pro1100=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303268	NM_022370.4(ROBO3):c.3300G>A (p.Pro1100=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303269	NM_022370.4(ROBO3):c.3320+12C>T	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880198	NM_022370.4(ROBO3):c.3350T>C (p.Met1117Thr)	ROBO3 (M166T +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880199	NM_022370.4(ROBO3):c.3354T>A (p.Pro1118=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880200	NM_022370.4(ROBO3):c.3372G>A (p.Thr1124=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880201	NM_022370.4(ROBO3):c.3462C>T (p.Ala1154=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 732988	NM_022370.4(ROBO3):c.3525G>A (p.Gln1175=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880202	NM_022370.4(ROBO3):c.3551C>A (p.Pro1184Gln)	ROBO3 (P1184Q +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303270	NM_022370.4(ROBO3):c.3567T>C (p.Ser1189=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 303271	NM_022370.4(ROBO3):c.3593G>A (p.Arg1198His)	ROBO3 (R1198H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 303272	NM_022370.4(ROBO3):c.3706G>A (p.Gly1236Arg)	ROBO3 (G1236R +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303273	NM_022370.4(ROBO3):c.3707G>T (p.Gly1236Val)	ROBO3 (G1236V +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303274	NM_022370.4(ROBO3):c.3780G>A (p.Arg1260=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877412	NM_022370.4(ROBO3):c.3788G>C (p.Ser1263Thr)	ROBO3 (S312T +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 877413	NM_022370.4(ROBO3):c.3792T>A (p.Pro1264=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely benign
Select item 303275	NM_022370.4(ROBO3):c.3822G>A (p.Pro1274=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GBenign/Likely benign
Select item 878435	NM_022370.4(ROBO3):c.3836C>T (p.Ala1279Val)	ROBO3 (A1279V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303276	NM_022370.4(ROBO3):c.3886C>G (p.Arg1296Gly)	ROBO3 (R1296G +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303277	NM_022370.4(ROBO3):c.3921C>T (p.Ala1307=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303278	NM_022370.4(ROBO3):c.3922G>A (p.Val1308Met)	ROBO3 (V1308M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 878436	NM_022370.4(ROBO3):c.4010G>A (p.Gly1337Asp)	ROBO3 (G1337D +2 more)	Single nucleotide variant (missense variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 878437	NM_022370.4(ROBO3):c.4087C>T (p.Arg1363Trp)	ROBO3 (R412W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 303279	NM_022370.4(ROBO3):c.4094GGAGTC[1] (p.1363RS[2])	ROBO3	Microsatellite (non-coding transcript variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign

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