"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2179	NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro)	ROBO3 (L5P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 2180	NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu)	ROBO3 (I66L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996109	NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser)	ROBO3 (P91S)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996120	NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr)	ROBO3 (I95T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 996119	NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro)	ROBO3 (R112P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996112	NM_022370.4(ROBO3):c.416G>T (p.Gly139Val)	ROBO3 (G139V)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
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 2177	NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys)	ROBO3 (E319K)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 561157	NM_022370.4(ROBO3):c.1051A>C (p.Thr351Pro)	ROBO3 (T351P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 2172	NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu)	ROBO3 (G361E)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996108	NM_022370.4(ROBO3):c.1158G>C (p.Gln386His)	ROBO3 (Q386H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
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 996105	NM_022370.4(ROBO3):c.1433C>T (p.Pro478Leu)	ROBO3 (P478L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996106	NM_022370.4(ROBO3):c.1450T>C (p.Trp484Arg)	ROBO3 (W484R)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996107	NM_022370.4(ROBO3):c.1726T>C (p.Trp576Arg)	ROBO3 (W576R)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 2174	NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro)	ROBO3 (R703P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 2175	NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro)	ROBO3 (S705P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996102	NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu)	ROBO3 (P771L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996103	NM_022370.4(ROBO3):c.2663T>C (p.Leu888Pro)	LOC130007006, ROBO3 (L888P)	Single nucleotide variant (5 prime UTR variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic