"Ambry Genetics"[submitter] AND "ROBO2"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2294130	NM_001395656.1(ROBO2):c.875T>C (p.Met292Thr)	ROBO2 (M315T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2463360	NM_001395656.1(ROBO2):c.882T>G (p.Ile294Met)	ROBO2 (I294M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1802057	NM_001395656.1(ROBO2):c.950C>A (p.Pro317His)	ROBO2 (P313H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2508788	NM_001395656.1(ROBO2):c.1084C>T (p.Pro362Ser)	ROBO2 (P358S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303044	NM_001395656.1(ROBO2):c.1325A>T (p.Lys442Ile)	ROBO2 (K458I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240893	NM_001395656.1(ROBO2):c.1359T>G (p.Ile453Met)	ROBO2 (I469M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548372	NM_001395656.1(ROBO2):c.1394G>C (p.Arg465Thr)	ROBO2 (R461T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207258	NM_001395656.1(ROBO2):c.1423G>C (p.Gly475Arg)	ROBO2 (G475R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601047	NM_001395656.1(ROBO2):c.1432C>A (p.Gln478Lys)	ROBO2 (Q497K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246087	NM_001395656.1(ROBO2):c.1513G>A (p.Ala505Thr)	ROBO2 (A501T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253135	NM_001395656.1(ROBO2):c.1589C>G (p.Ser530Cys)	ROBO2 (S546C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2306709	NM_001395656.1(ROBO2):c.1603A>C (p.Thr535Pro)	ROBO2 (T547P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606887	NM_001395656.1(ROBO2):c.1646G>A (p.Gly549Asp)	ROBO2 (G568D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 346688	NM_001395656.1(ROBO2):c.1706G>C (p.Ser569Thr)	ROBO2 (S565T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2257075	NM_001395656.1(ROBO2):c.1952T>C (p.Leu651Pro)	ROBO2 (L663P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2548373	NM_001395656.1(ROBO2):c.2276G>A (p.Ser759Asn)	ROBO2 (S778N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050325	NM_001395656.1(ROBO2):c.2578G>C (p.Val860Leu)	ROBO2 (V263L +6 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 2 +1 more	GUncertain significance
Select item 2556978	NM_001395656.1(ROBO2):c.2611G>A (p.Gly871Ser)	ROBO2 (G274S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283007	NM_001395656.1(ROBO2):c.2747G>A (p.Gly916Asp)	ROBO2 (G912D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064947	NM_001395656.1(ROBO2):c.2804C>T (p.Thr935Met)	ROBO2 (T935M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2594663	NM_001395656.1(ROBO2):c.2861G>A (p.Arg954His)	ROBO2 (R950H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616794	NM_001395656.1(ROBO2):c.2867A>T (p.Asp956Val)	ROBO2 (D359V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1598465	NM_001395656.1(ROBO2):c.3070T>C (p.Trp1024Arg)	ROBO2 (W1020R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2464798	NM_001395656.1(ROBO2):c.3115T>C (p.Tyr1039His)	ROBO2 (Y1035H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2410153	NM_001395656.1(ROBO2):c.3238C>G (p.Pro1080Ala)	ROBO2 (P1076A +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065898	NM_001395656.1(ROBO2):c.3242C>G (p.Pro1081Arg)	ROBO2 (P1077R +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 809509	NM_001395656.1(ROBO2):c.3245C>G (p.Pro1082Arg)	ROBO2 (P1094R +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2292270	NM_001395656.1(ROBO2):c.3257T>C (p.Leu1086Pro)	ROBO2 (L1105P +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175686	NM_001395656.1(ROBO2):c.3259C>T (p.Pro1087Ser)	ROBO2 (P1084S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2358019	NM_001395656.1(ROBO2):c.3430T>A (p.Ser1144Thr)	ROBO2 (S1140T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2356269	NM_001395656.1(ROBO2):c.3552A>G (p.Ile1184Met)	ROBO2 (I1181M +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2236757	NM_001395656.1(ROBO2):c.3576A>C (p.Gln1192His)	ROBO2 (Q1189H +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2259836	NM_001395656.1(ROBO2):c.3800C>T (p.Pro1267Leu)	ROBO2 (P1283L +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543596	NM_001395656.1(ROBO2):c.3917T>C (p.Leu1306Ser)	ROBO2 (L1318S +12 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2301949	NM_001395656.1(ROBO2):c.4292C>T (p.Ser1431Phe)	ROBO2 (S1298F +19 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547193	NM_001395656.1(ROBO2):c.4334G>C (p.Arg1445Thr)	ROBO2 (R1373T +19 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321626	NM_001395656.1(ROBO2):c.4349G>T (p.Arg1450Leu)	ROBO2 (R1317L +19 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 346715	NM_001395656.1(ROBO2):c.4349G>A (p.Arg1450His)	ROBO2 (R1371H +19 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 2 +1 more	GUncertain significance

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Items: 48