"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ROBO3"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444276	NM_022370.4(ROBO3):c.568C>T (p.Pro190Ser)	ROBO3 (P190S)	Single nucleotide variant (missense variant)	not provided	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 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 2642499	NM_022370.4(ROBO3):c.744G>A (p.Ala248=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2642500	NM_022370.4(ROBO3):c.916C>A (p.Arg306=)	ROBO3	Single nucleotide variant (synonymous variant)	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 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 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 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 2642501	NM_022370.4(ROBO3):c.2865C>A (p.Gly955=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 878435	NM_022370.4(ROBO3):c.3836C>T (p.Ala1279Val)	ROBO3 (A1279V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 303280	NM_022370.4(ROBO3):c.4098T>C (p.Ser1366=)	ROBO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity