Related gene-specific medical variations for Gene (Select 64221) - ClinVar

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Items: 23

	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 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 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 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 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 1319649	NM_022370.4(ROBO3):c.160G>A (p.Gly54Arg)	ROBO3 (G54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319648	NM_022370.4(ROBO3):c.3581T>C (p.Met1194Thr)	ROBO3 (M1194T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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
Select item 974850	NM_022370.4(ROBO3):c.767-1G>A	ROBO3	Single nucleotide variant (splice acceptor variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GPathogenic/Likely pathogenic
Select item 974849	NM_022370.4(ROBO3):c.3412del (p.Arg1138fs)	ROBO3 (R1138fs +2 more)	Deletion (frameshift variant +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 962582	NM_022370.4(ROBO3):c.2637dup (p.Leu880fs)	LOC130007006, ROBO3 (L880fs)	Duplication (5 prime UTR variant +2 more)	not provided	GPathogenic
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 733757	NM_022370.4(ROBO3):c.2472A>T (p.Ala824=)	LOC124625862, ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722199	NM_022370.4(ROBO3):c.2550C>T (p.Ser850=)	LOC124625862, ROBO3	Single nucleotide variant (synonymous variant)	not provided	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 303256	NM_022370.4(ROBO3):c.2621T>A (p.Leu874Gln)	LOC130007006, ROBO3 (L874Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign/Likely benign
Select item 303255	NM_022370.4(ROBO3):c.2603C>T (p.Pro868Leu)	ROBO3, LOC130007006 (P868L)	Single nucleotide variant (5 prime UTR variant +2 more)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
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 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

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Links from Gene

Items: 23