ClinVar for Gene (Select 54538) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236629	NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met)	ROBO4 (L553M +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 3155675	NM_019055.6(ROBO4):c.869C>T (p.Pro290Leu)	ROBO4 (P290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155674	NM_019055.6(ROBO4):c.4G>C (p.Gly2Arg)	ROBO4 (G2R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155673	NM_019055.6(ROBO4):c.475G>C (p.Gly159Arg)	ROBO4 (G14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155672	NM_019055.6(ROBO4):c.46C>A (p.Pro16Thr)	ROBO4 (P16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155671	NM_019055.6(ROBO4):c.365C>T (p.Thr122Met)	ROBO4 (T122M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155670	NM_019055.6(ROBO4):c.301G>A (p.Asp101Asn)	ROBO4 (D101N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155669	NM_019055.6(ROBO4):c.3014A>G (p.Asp1005Gly)	ROBO4 (D1005G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155668	NM_019055.6(ROBO4):c.2981G>A (p.Cys994Tyr)	ROBO4 (C849Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155667	NM_019055.6(ROBO4):c.2951A>C (p.Gln984Pro)	ROBO4 (Q839P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155666	NM_019055.6(ROBO4):c.2912G>A (p.Arg971Gln)	ROBO4 (R826Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155665	NM_019055.6(ROBO4):c.2813C>T (p.Ser938Phe)	ROBO4 (S938F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155664	NM_019055.6(ROBO4):c.2759G>A (p.Gly920Asp)	ROBO4 (G775D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155663	NM_019055.6(ROBO4):c.2636C>T (p.Ser879Leu)	ROBO4 (S879L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155662	NM_019055.6(ROBO4):c.2561G>C (p.Gly854Ala)	ROBO4 (G709A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155661	NM_019055.6(ROBO4):c.2327G>A (p.Arg776His)	ROBO4 (R631H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3155660	NM_019055.6(ROBO4):c.2283C>A (p.Ser761Arg)	ROBO4 (S616R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155659	NM_019055.6(ROBO4):c.221T>C (p.Met74Thr)	ROBO4 (M74T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155658	NM_019055.6(ROBO4):c.2124G>T (p.Glu708Asp)	ROBO4 (E708D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155657	NM_019055.6(ROBO4):c.1982G>A (p.Arg661Gln)	ROBO4 (R661Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155656	NM_019055.6(ROBO4):c.1964A>G (p.Asn655Ser)	ROBO4 (N655S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155655	NM_019055.6(ROBO4):c.1933G>T (p.Ala645Ser)	ROBO4 (A500S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155654	NM_019055.6(ROBO4):c.1901G>T (p.Arg634Leu)	ROBO4 (R489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155653	NM_019055.6(ROBO4):c.1901G>A (p.Arg634His)	ROBO4 (R489H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155652	NM_019055.6(ROBO4):c.1895C>A (p.Ser632Tyr)	ROBO4 (S487Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155651	NM_019055.6(ROBO4):c.1886G>A (p.Gly629Glu)	ROBO4 (G484E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155650	NM_019055.6(ROBO4):c.1816C>T (p.Arg606Cys)	ROBO4 (R461C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155649	NM_019055.6(ROBO4):c.1789C>A (p.Pro597Thr)	ROBO4 (P452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155648	NM_019055.6(ROBO4):c.1771T>C (p.Ser591Pro)	ROBO4 (S591P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155647	NM_019055.6(ROBO4):c.1663C>G (p.Pro555Ala)	ROBO4 (P555A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155646	NM_019055.6(ROBO4):c.1589G>A (p.Arg530His)	ROBO4 (R385H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155645	NM_019055.6(ROBO4):c.1423G>A (p.Gly475Ser)	ROBO4 (G330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155644	NM_019055.6(ROBO4):c.1262C>T (p.Ala421Val)	ROBO4 (A421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155643	NM_019055.6(ROBO4):c.1225G>A (p.Ala409Thr)	ROBO4 (A264T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155642	NM_019055.6(ROBO4):c.1135A>C (p.Ile379Leu)	ROBO4 (I379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155641	NM_019055.6(ROBO4):c.1067T>G (p.Leu356Arg)	ROBO4 (L211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155640	NM_019055.6(ROBO4):c.1028C>T (p.Pro343Leu)	ROBO4 (P198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3069132	NM_019055.6(ROBO4):c.681G>T (p.Glu227Asp)	ROBO4 (E227D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3050364	NM_019055.6(ROBO4):c.843G>A (p.Thr281=)	ROBO4	Single nucleotide variant (synonymous variant)	ROBO4-related disorder	GLikely benign
Select item 3049393	NM_019055.6(ROBO4):c.2153C>T (p.Pro718Leu)	ROBO4 (P573L +1 more)	Single nucleotide variant (missense variant)	ROBO4-related disorder	GBenign
Select item 3040276	NM_019055.6(ROBO4):c.1998G>A (p.Leu666=)	ROBO4	Single nucleotide variant (synonymous variant)	ROBO4-related disorder	GLikely benign
Select item 3040164	NM_019055.6(ROBO4):c.2100G>T (p.Pro700=)	ROBO4	Single nucleotide variant (synonymous variant)	ROBO4-related disorder	GLikely benign
Select item 3034561	NM_019055.6(ROBO4):c.985C>T (p.Arg329Trp)	ROBO4 (R184W +1 more)	Single nucleotide variant (missense variant)	ROBO4-related disorder	GLikely benign
Select item 3025481	NM_019055.6(ROBO4):c.691T>C (p.Tyr231His)	ROBO4 (Y231H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024526	NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro)	ROBO4 (L104P +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 2691250	NM_019055.6(ROBO4):c.1650G>A (p.Ala550=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691249	NM_019055.6(ROBO4):c.1640G>A (p.Arg547Gln)	ROBO4 (R402Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691248	NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)	ROBO4 (R402W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691247	NM_019055.6(ROBO4):c.1603T>C (p.Ser535Pro)	ROBO4 (S390P +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691246	NM_019055.6(ROBO4):c.1570T>C (p.Trp524Arg)	ROBO4 (W379R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691245	NM_019055.6(ROBO4):c.1468C>G (p.His490Asp)	ROBO4 (H345D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691244	NM_019055.6(ROBO4):c.1400G>A (p.Arg467Gln)	ROBO4 (R322Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691243	NM_019055.6(ROBO4):c.1150G>A (p.Val384Ile)	ROBO4 (V239I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691242	NM_019055.6(ROBO4):c.103C>T (p.Leu35=)	ROBO4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691241	NM_019055.6(ROBO4):c.102C>A (p.Ile34=)	ROBO4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691026	NM_019055.6(ROBO4):c.878A>C (p.Gln293Pro)	ROBO4 (Q148P +1 more)	Single nucleotide variant (missense variant)	ROBO4-related disorder +1 more	GBenign
Select item 2691025	NM_019055.6(ROBO4):c.831C>A (p.Ala277=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2691024	NM_019055.6(ROBO4):c.6C>A (p.Gly2=)	ROBO4	Single nucleotide variant (5 prime UTR variant +1 more)	ROBO4-related disorder +1 more	GBenign
Select item 2691023	NM_019055.6(ROBO4):c.645T>C (p.His215=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691022	NM_019055.6(ROBO4):c.570G>A (p.Gly190=)	ROBO4	Single nucleotide variant (synonymous variant)	ROBO4-related disorder +1 more	GBenign
Select item 2691021	NM_019055.6(ROBO4):c.430C>T (p.Arg144Trp)	ROBO4 (R144W)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691020	NM_019055.6(ROBO4):c.2748C>T (p.Ser916=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691019	NM_019055.6(ROBO4):c.2689G>A (p.Asp897Asn)	ROBO4 (D752N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691018	NM_019055.6(ROBO4):c.2279C>T (p.Pro760Leu)	ROBO4 (P615L +1 more)	Single nucleotide variant (missense variant)	ROBO4-related disorder +1 more	GBenign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642509	NM_019055.6(ROBO4):c.406C>A (p.Arg136=)	ROBO4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2642508	NM_019055.6(ROBO4):c.523G>A (p.Gly175Arg)	ROBO4 (G175R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642507	NM_019055.6(ROBO4):c.625G>T (p.Ala209Ser)	ROBO4 (A209S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642506	NM_019055.6(ROBO4):c.1219G>A (p.Glu407Lys)	ROBO4 (E262K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642505	NM_019055.6(ROBO4):c.1758C>A (p.Ile586=)	ROBO4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642504	NM_019055.6(ROBO4):c.1775G>A (p.Ser592Asn)	ROBO4 (S447N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
Select item 2642503	NM_019055.6(ROBO4):c.2005C>T (p.Arg669Trp)	ROBO4 (R524W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2642502	NM_019055.6(ROBO4):c.3001+3G>A	ROBO4	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 2634997	NM_019055.6(ROBO4):c.92C>T (p.Pro31Leu)	ROBO4 (P31L)	Single nucleotide variant (missense variant +1 more)	ROBO4-related disorder	GUncertain significance
Select item 2612131	NM_019055.6(ROBO4):c.2905A>C (p.Thr969Pro)	ROBO4 (T969P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610674	NM_019055.6(ROBO4):c.2834T>C (p.Leu945Pro)	ROBO4 (L800P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599141	NM_019055.6(ROBO4):c.1798C>G (p.Gln600Glu)	ROBO4 (Q455E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597590	NM_019055.6(ROBO4):c.1160T>C (p.Leu387Pro)	ROBO4 (L387P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593012	NM_019055.6(ROBO4):c.1252G>A (p.Val418Met)	ROBO4 (V418M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2585562	NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)	ROBO4 (G775S +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 2559272	NM_019055.6(ROBO4):c.1288G>A (p.Glu430Lys)	ROBO4 (E285K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552390	NM_019055.6(ROBO4):c.542A>G (p.Gln181Arg)	ROBO4 (Q36R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535972	NM_019055.6(ROBO4):c.565G>A (p.Gly189Arg)	ROBO4 (G189R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519095	NM_019055.6(ROBO4):c.1675C>T (p.Arg559Cys)	ROBO4 (R414C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507798	NM_019055.6(ROBO4):c.2757C>G (p.Phe919Leu)	ROBO4 (F774L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2495743	NM_019055.6(ROBO4):c.97C>G (p.Gln33Glu)	ROBO4 (Q33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490978	NM_019055.6(ROBO4):c.2911C>T (p.Arg971Trp)	ROBO4 (R826W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487231	NM_019055.6(ROBO4):c.605A>T (p.Glu202Val)	ROBO4 (E202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485875	NM_019055.6(ROBO4):c.2561G>A (p.Gly854Glu)	ROBO4 (G854E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480926	NM_019055.6(ROBO4):c.2039A>T (p.Asn680Ile)	ROBO4 (N680I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474681	NM_019055.6(ROBO4):c.1424G>A (p.Gly475Asp)	ROBO4 (G330D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472530	NM_019055.6(ROBO4):c.2995G>A (p.Ala999Thr)	ROBO4 (A854T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470628	NM_019055.6(ROBO4):c.1663C>T (p.Pro555Ser)	ROBO4 (P410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441673	NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)	ROBO4 (S182fs +1 more)	Microsatellite (frameshift variant)	Aortic valve disease 3	GLikely pathogenic
Select item 2435454	NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)	ROBO4 (Q583* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 3	GUncertain significance

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