ClinVar for OMIM (Select 620305) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393104	NM_002941.4(ROBO1):c.791T>C (p.Phe264Ser)	ROBO1 (F225S +1 more)	Single nucleotide variant (missense variant)	Neurooculorenal syndrome	GUncertain significance
Select item 2631840	NM_002941.4(ROBO1):c.1073G>A (p.Arg358His)	ROBO1 (R322H +1 more)	Single nucleotide variant (missense variant)	Neurooculorenal syndrome +1 more	GLikely benign
Select item 1077090	NM_002941.4(ROBO1):c.2758C>T (p.Arg920Ter)	ROBO1 (R884* +1 more)	Single nucleotide variant (nonsense)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1077089	NM_002941.4(ROBO1):c.687C>G (p.Tyr229Ter)	ROBO1 (Y190* +1 more)	Single nucleotide variant (nonsense)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 996111	NM_002941.4(ROBO1):c.526C>T (p.Pro176Ser)	ROBO1 (P137S +1 more)	Single nucleotide variant (missense variant)	Bilateral renal agenesis	GLikely pathogenic
Select item 996101	NM_002941.4(ROBO1):c.4823C>G (p.Ser1608Ter)	ROBO1 (S1508* +2 more)	Single nucleotide variant (nonsense)	Bilateral renal agenesis	GLikely pathogenic
Select item 996098	NM_002941.4(ROBO1):c.2882+1G>T	ROBO1	Single nucleotide variant (splice donor variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 996034	NM_002941.4(ROBO1):c.1342+1G>A	ROBO1	Single nucleotide variant (splice donor variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 995981	NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)	ROBO1 (R119* +1 more)	Single nucleotide variant (nonsense)	Neurooculorenal syndrome +1 more	GLikely pathogenic