ROBO2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 446

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 154281	GRCh38/hg38 3p12.3(chr3:75153221-76021659)x3	FRG2C, LINC00960 +17 more	Copy number gain	See cases	GLikely benign
Select item 3035762	NM_001128929.3(ROBO2):c.-3G>T	ROBO2	Single nucleotide variant (5 prime UTR variant)	ROBO2-related disorder	GLikely benign
Select item 518348	NM_001128929.3(ROBO2):c.19C>A (p.Arg7Ser)	ROBO2 (R7S)	Single nucleotide variant (missense variant)	ROBO2-related disorder +1 more	GBenign
Select item 3054800	NM_001128929.3(ROBO2):c.41C>G (p.Thr14Arg)	ROBO2 (T14R)	Single nucleotide variant (missense variant)	ROBO2-related disorder	GUncertain significance
Select item 3059790	NM_001128929.3(ROBO2):c.42A>G (p.Thr14=)	ROBO2	Single nucleotide variant (synonymous variant)	ROBO2-related disorder	GBenign
Select item 3059993	NM_001128929.3(ROBO2):c.51G>A (p.Pro17=)	ROBO2	Single nucleotide variant (synonymous variant)	ROBO2-related disorder	GBenign
Select item 3040686	NM_001128929.3(ROBO2):c.54A>G (p.Gly18=)	ROBO2	Single nucleotide variant (synonymous variant)	ROBO2-related disorder	GLikely benign
Select item 518349	NM_001128929.3(ROBO2):c.73G>A (p.Val25Met)	ROBO2 (V25M)	Single nucleotide variant (missense variant)	ROBO2-related disorder +1 more	GBenign
Select item 3060297	NM_001128929.3(ROBO2):c.75G>C (p.Val25=)	ROBO2	Single nucleotide variant (synonymous variant)	ROBO2-related disorder	GBenign
Select item 2653976	NM_001128929.3(ROBO2):c.75G>A (p.Val25=)	ROBO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224347	NM_001128929.3(ROBO2):c.97G>T (p.Gly33Ter)	ROBO2 (G33*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 152479	GRCh38/hg38 3p12.3(chr3:76000375-76868907)x3	LOC126806723, LOC126806724 +9 more	Copy number gain	See cases	GBenign
Select item 148579	GRCh38/hg38 3p12.3(chr3:76656769-77048226)x1	LOC129389093, LOC129389094 +3 more	Copy number loss	See cases	GUncertain significance
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 60086	GRCh38/hg38 3p12.3(chr3:76974990-77050465)x1	LOC129389095, ROBO2	Copy number loss	See cases	GUncertain significance
Select item 1251594	NM_001128929.3(ROBO2):c.110-58070C>G	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346665	NM_001395656.1(ROBO2):c.-571C>G	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 346666	NM_001395656.1(ROBO2):c.-562A>G	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 346667	NM_001395656.1(ROBO2):c.-542T>C	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2 +1 more	GBenign
Select item 346668	NM_001395656.1(ROBO2):c.-482C>T	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 346669	NM_001395656.1(ROBO2):c.-459G>A	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2	GBenign
Select item 346670	NM_001395656.1(ROBO2):c.-404G>C	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2 +1 more	GBenign
Select item 346671	NM_001395656.1(ROBO2):c.-238T>G	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2 +1 more	GBenign
Select item 346672	NM_001395656.1(ROBO2):c.-166C>T	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 346673	NM_001395656.1(ROBO2):c.-110C>G	ROBO2	Single nucleotide variant (5 prime UTR variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 2712373	NM_001395656.1(ROBO2):c.8T>A (p.Leu3Gln)	ROBO2 (L3Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3021382	NM_001395656.1(ROBO2):c.35G>A (p.Cys12Tyr)	ROBO2 (C12Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1966076	NM_001395656.1(ROBO2):c.52C>T (p.Arg18Trp)	ROBO2 (R18W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1247361	NM_001395656.1(ROBO2):c.61+115C>T	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245198	NM_001395656.1(ROBO2):c.62-217A>T	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245909	NM_001395656.1(ROBO2):c.62-158G>A	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253088	NM_001395656.1(ROBO2):c.62-126C>A	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282281	NM_001395656.1(ROBO2):c.62-53G>A	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1896931	NM_001395656.1(ROBO2):c.62-14G>A	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346674	NM_001395656.1(ROBO2):c.62-14G>T	ROBO2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2276747	NM_001395656.1(ROBO2):c.92C>T (p.Pro31Leu)	ROBO2 (P31L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 346675	NM_001395656.1(ROBO2):c.94C>A (p.Arg32=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2 +1 more	GBenign
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 3029368	NM_001395656.1(ROBO2):c.111T>G (p.Pro37=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	ROBO2-related disorder	GLikely benign
Select item 1306357	NM_001395656.1(ROBO2):c.169C>T (p.Arg57Trp)	ROBO2 (R57W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734237	NM_001395656.1(ROBO2):c.171G>T (p.Arg57=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2 +1 more	GBenign/Likely benign
Select item 2249633	NM_001395656.1(ROBO2):c.175A>G (p.Thr59Ala)	ROBO2 (T75A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1601252	NM_001395656.1(ROBO2):c.204G>A (p.Gly68=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2 +2 more	GBenign/Likely benign
Select item 899661	NM_001395656.1(ROBO2):c.218C>G (p.Thr73Ser)	ROBO2 (T73S +2 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2 +1 more	GUncertain significance
Select item 1901997	NM_001395656.1(ROBO2):c.235C>T (p.Arg79Trp)	ROBO2 (R95W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2369048	NM_001395656.1(ROBO2):c.251T>A (p.Leu84His)	ROBO2 (L107H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 995966	NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)	ROBO2 (G114W +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 1957257	NM_001395656.1(ROBO2):c.297C>A (p.Arg99=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022981	NM_001395656.1(ROBO2):c.335C>G (p.Ala112Gly)	ROBO2 (A135G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224346	NM_001395656.1(ROBO2):c.335C>T (p.Ala112Val)	ROBO2 (A112V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GConflicting classifications of pathogenicity
Select item 900807	NM_001395656.1(ROBO2):c.339G>T (p.Arg113Ser)	ROBO2 (R113S +2 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 3007667	NM_001395656.1(ROBO2):c.341A>G (p.Asn114Ser)	ROBO2 (N114S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2602382	NM_001395656.1(ROBO2):c.343T>C (p.Tyr115His)	ROBO2 (Y138H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1303319	NM_001395656.1(ROBO2):c.371C>T (p.Ala124Val)	ROBO2 (A124V +2 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2 +1 more	GUncertain significance
Select item 900808	NM_001395656.1(ROBO2):c.372G>A (p.Ala124=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 3040898	NM_001395656.1(ROBO2):c.384G>C (p.Val128=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	ROBO2-related disorder	GLikely benign
Select item 3042679	NM_001395656.1(ROBO2):c.389-6C>A	ROBO2	Single nucleotide variant (intron variant)	ROBO2-related disorder	GLikely benign
Select item 3030436	NM_001395656.1(ROBO2):c.450A>G (p.Ala150=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	ROBO2-related disorder	GLikely benign
Select item 346676	NM_001395656.1(ROBO2):c.462C>T (p.Cys154=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2	GBenign/Likely benign
Select item 900809	NM_001395656.1(ROBO2):c.467C>T (p.Pro156Leu)	ROBO2 (P156L +2 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 346677	NM_001395656.1(ROBO2):c.471C>T (p.Pro157=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2	GBenign/Likely benign
Select item 2823931	NM_001395656.1(ROBO2):c.479A>G (p.His160Arg)	ROBO2 (H183R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2018097	NM_001395656.1(ROBO2):c.480C>T (p.His160=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1321637	NM_001395656.1(ROBO2):c.509A>G (p.Asp170Gly)	ROBO2 (D170G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784125	NM_001395656.1(ROBO2):c.514G>T (p.Val172Phe)	ROBO2 (V172F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942291	NM_001395656.1(ROBO2):c.518G>A (p.Arg173Gln)	ROBO2 (R196Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2966440	NM_001395656.1(ROBO2):c.546+18C>T	ROBO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 346678	NM_001395656.1(ROBO2):c.547-3C>T	ROBO2	Single nucleotide variant (intron variant)	Vesicoureteral reflux 2 +1 more	GBenign
Select item 2050479	NM_001395656.1(ROBO2):c.550C>T (p.Arg184Cys)	ROBO2 (R200C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2165502	NM_001395656.1(ROBO2):c.551G>A (p.Arg184His)	ROBO2 (R207H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 346679	NM_001395656.1(ROBO2):c.558A>G (p.Gly186=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 2520755	NM_001395656.1(ROBO2):c.561A>T (p.Lys187Asn)	ROBO2 (K203N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520757	NM_001395656.1(ROBO2):c.567G>T (p.Met189Ile)	ROBO2 (M189I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485098	NM_001395656.1(ROBO2):c.575A>G (p.Asn192Ser)	ROBO2 (N215S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2653977	NM_001395656.1(ROBO2):c.578C>T (p.Thr193Ile)	ROBO2 (T193I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3044782	NM_001395656.1(ROBO2):c.618C>A (p.Thr206=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	ROBO2-related disorder	GLikely benign
Select item 900810	NM_001395656.1(ROBO2):c.628G>A (p.Gly210Arg)	ROBO2 (G226R +2 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 2271218	NM_001395656.1(ROBO2):c.638A>G (p.Asp213Gly)	ROBO2 (D229G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2060525	NM_001395656.1(ROBO2):c.639C>G (p.Asp213Glu)	ROBO2 (D229E +2 more)	Single nucleotide variant (missense variant +1 more)	ROBO2-related disorder +1 more	GBenign/Likely benign
Select item 1269637	NM_001395656.1(ROBO2):c.667+267T>C	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987380	NM_001395656.1(ROBO2):c.668-5dup	ROBO2	Duplication (intron variant)	not provided	GBenign
Select item 2966534	NM_001395656.1(ROBO2):c.668-5del	ROBO2	Deletion (intron variant)	not provided	GBenign
Select item 3043225	NM_001395656.1(ROBO2):c.668-6T>C	ROBO2	Single nucleotide variant (intron variant)	ROBO2-related disorder	GLikely benign
Select item 2074783	NM_001395656.1(ROBO2):c.668-4del	ROBO2	Deletion (intron variant)	not provided	GLikely benign
Select item 995961	NM_001395656.1(ROBO2):c.676A>G (p.Thr226Ala)	ROBO2 (T226A +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 2813154	NM_001395656.1(ROBO2):c.682C>T (p.Leu228Phe)	ROBO2 (L244F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334706	NM_001395656.1(ROBO2):c.712G>A (p.Glu238Lys)	ROBO2 (E238K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2615910	NM_001395656.1(ROBO2):c.752A>C (p.Asp251Ala)	ROBO2 (D267A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 995960	NM_001395656.1(ROBO2):c.760C>G (p.Pro254Ala)	ROBO2 (P254A +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 902477	NM_001395656.1(ROBO2):c.775A>G (p.Lys259Glu)	ROBO2 (K275E +2 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 2	GUncertain significance
Select item 1245328	NM_001395656.1(ROBO2):c.807-287A>C	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241516	NM_001395656.1(ROBO2):c.807-248G>A	ROBO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897950	NM_001395656.1(ROBO2):c.807-13A>G	ROBO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 346680	NM_001395656.1(ROBO2):c.807-7T>A	ROBO2	Single nucleotide variant (intron variant)	Vesicoureteral reflux 2	GBenign
Select item 2885337	NM_001395656.1(ROBO2):c.822C>T (p.Asp274=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

<< First< Prev

Page of 5