Related gene-specific medical variations for Gene (Select 6092) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155602	NM_001395656.1(ROBO2):c.2083G>A (p.Val695Ile)	LOC126806727, ROBO2 (V695I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062717	GRCh37/hg19 3p12.3(chr3:77048339-77136679)x1	ROBO2	Copy number loss	not specified	GUncertain significance
Select item 2506733	NM_001395656.1(ROBO2):c.2054C>A (p.Thr685Lys)	ROBO2, LOC126806727 (T681K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435452	NM_001395656.1(ROBO2):c.1312A>G (p.Thr438Ala)	ROBO2 (T434A +5 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 2246452	NM_001395656.1(ROBO2):c.2120A>G (p.Lys707Arg)	LOC126806727, ROBO2 (K703R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067223	NM_001395656.1(ROBO2):c.2201G>A (p.Arg734His)	LOC126806727, ROBO2 (R750H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2009453	NM_001395656.1(ROBO2):c.2196G>C (p.Thr732=)	LOC126806727, ROBO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986878	NM_001395656.1(ROBO2):c.1984-10T>C	LOC126806727, ROBO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911741	NM_001395656.1(ROBO2):c.2061G>A (p.Ser687=)	LOC126806727, ROBO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808590	GRCh37/hg19 3p12.3(chr3:77048340-77236025)x1	ROBO2	Copy number loss	not provided	GUncertain significance
Select item 1136675	NM_001395656.1(ROBO2):c.2051C>T (p.Ala684Val)	LOC126806727, ROBO2 (A680V +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 931412	NM_001395656.1(ROBO2):c.3379G>A (p.Glu1127Lys)	ROBO2 (E1123K +12 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 2	GUncertain significance
Select item 900887	NM_001395656.1(ROBO2):c.2200C>T (p.Arg734Cys)	LOC126806727, ROBO2 (R750C +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 900886	NM_001395656.1(ROBO2):c.2058T>C (p.Ser686=)	LOC126806727, ROBO2	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 2 +1 more	GLikely benign
Select item 900885	NM_001395656.1(ROBO2):c.2056T>C (p.Ser686Pro)	LOC126806727, ROBO2 (S682P +6 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 2	GUncertain significance
Select item 900884	NM_001395656.1(ROBO2):c.2024T>C (p.Met675Thr)	LOC126806727, ROBO2 (M687T +6 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 2	GUncertain significance
Select item 744404	NM_001395656.1(ROBO2):c.2196G>A (p.Thr732=)	LOC126806727, ROBO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685136	GRCh37/hg19 3p12.3(chr3:77002316-77751414)x1	ROBO2	Copy number loss	not provided	GUncertain significance
Select item 633692	NM_001395656.1(ROBO2):c.3676G>A (p.Asp1226Asn)	ROBO2 (D1238N +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591664	NM_001395656.1(ROBO2):c.3828_3830del (p.Ser1277del)	ROBO2 (S1289del +12 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 562383	NM_001395656.1(ROBO2):c.95G>A (p.Arg32Gln)	ROBO2 (R48Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 346697	NM_001395656.1(ROBO2):c.2086C>T (p.Pro696Ser)	LOC126806727, ROBO2 (P692S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 346696	NM_001395656.1(ROBO2):c.2030G>A (p.Arg677His)	LOC126806727, ROBO2 (R673H +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 346695	NM_001395656.1(ROBO2):c.2019A>C (p.Arg673=)	LOC126806727, ROBO2	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 2	GUncertain significance
Select item 346694	NM_001395656.1(ROBO2):c.1984G>A (p.Val662Ile)	LOC126806727, ROBO2 (V658I +6 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux	GUncertain significance
Select item 226156	GRCh37/hg19 3p12.3(chr3:76848167-76951689)	ROBO2	Copy number loss	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26