"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ROBO1"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2653979	NM_002941.4(ROBO1):c.4719A>T (p.Pro1573=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2052159	NM_002941.4(ROBO1):c.4360G>T (p.Val1454Leu)	ROBO1 (V1409L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2583015	NM_002941.4(ROBO1):c.4182C>T (p.Asp1394=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713785	NM_002941.4(ROBO1):c.3823T>C (p.Leu1275=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2048225	NM_002941.4(ROBO1):c.3651C>T (p.Pro1217=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661394	NM_002941.4(ROBO1):c.3411A>G (p.Pro1137=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 774169	NM_002941.4(ROBO1):c.2088+7T>G	ROBO1	Single nucleotide variant (intron variant)	ROBO1-related disorder +1 more	GBenign/Likely benign
Select item 2653980	NM_002941.4(ROBO1):c.1800-8A>G	ROBO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 776474	NM_002941.4(ROBO1):c.1224C>T (p.Ser408=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2653981	NM_002941.4(ROBO1):c.1223C>T (p.Ser408Phe)	ROBO1 (S372F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2583016	NM_002941.4(ROBO1):c.1011C>T (p.Gly337=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672946	NC_000003.12:g.78717410CT[1]	ROBO1	Microsatellite	not provided	GUncertain significance
Select item 712462	NM_002941.4(ROBO1):c.699T>C (p.Ser233=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653982	NM_002941.4(ROBO1):c.531G>A (p.Ser177=)	ROBO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571786	NM_002941.4(ROBO1):c.505C>T (p.Arg169Trp)	ROBO1 (R130W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653983	NM_002941.4(ROBO1):c.173-79516C>A	ROBO1 (H7N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 444848	GRCh37/hg19 3p12.3(chr3:79051770-79203457)x3	ROBO1	Copy number gain	not provided	GUncertain significance