Related gene-specific medical variations for Gene (Select 6091) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690687	NM_002941.4(ROBO1):c.1501C>T (p.Arg501Ter)	ROBO1 (R465* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690686	NM_002941.4(ROBO1):c.3808G>T (p.Glu1270Ter)	ROBO1 (E1170* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2689879	NM_002941.4(ROBO1):c.384T>A (p.Phe128Leu)	ROBO1 (F128L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685926	GRCh37/hg19 3p12.3-12.2(chr3:79324762-79960750)x3	ROBO1	Copy number gain	not provided	GUncertain significance
Select item 1808826	GRCh37/hg19 3p12.3-12.2(chr3:79175867-81092271)x3	ROBO1	Copy number gain	not provided	GUncertain significance
Select item 1527027	GRCh37/hg19 3p12.3-12.2(chr3:79302526-80288252)	ROBO1	Copy number gain	not specified	GUncertain significance
Select item 1343417	NM_002941.4(ROBO1):c.1265A>G (p.Asp422Gly)	ROBO1 (D386G +1 more)	Single nucleotide variant (missense variant)	Short stature	GPathogenic
Select item 1098921	GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1	ROBO1	Copy number loss	Tetralogy of Fallot	GLikely pathogenic
Select item 814458	GRCh37/hg19 3p12.3(chr3:78491347-78709361)x3	ROBO1	Copy number gain	not provided	GUncertain significance
Select item 444848	GRCh37/hg19 3p12.3(chr3:79051770-79203457)x3	ROBO1	Copy number gain	not provided	GUncertain significance
Select item 442203	GRCh37/hg19 3p12.3-12.2(chr3:79409920-81525880)x3	ROBO1	Copy number gain	See cases	GUncertain significance
Select item 395347	GRCh37/hg19 3p12.3-12.2(chr3:79604120-81307181)x1	ROBO1	Copy number loss	See cases	GUncertain significance
Select item 394407	GRCh37/hg19 3p12.2(chr3:79810845-80743447)x3	ROBO1	Copy number gain	See cases	GLikely benign
Select item 152473	GRCh38/hg38 3p12.3(chr3:79513424-79550313)x3	ROBO1	Copy number gain	See cases	GBenign