ROBO4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149014	GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1	CCDC15, ESAM +37 more	Copy number loss	See cases	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 2642502	NM_019055.6(ROBO4):c.3001+3G>A	ROBO4	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
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 3315014	NM_019055.6(ROBO4):c.2990C>T (p.Pro997Leu)	ROBO4 (P852L +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 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 717253	NM_019055.6(ROBO4):c.2907C>T (p.Thr969=)	ROBO4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3315013	NM_019055.6(ROBO4):c.2873C>T (p.Pro958Leu)	ROBO4 (P813L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403079	NM_019055.6(ROBO4):c.2866T>C (p.Trp956Arg)	ROBO4 (W811R +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 2302861	NM_019055.6(ROBO4):c.2822A>T (p.Asp941Val)	ROBO4 (D796V +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 2213935	NM_019055.6(ROBO4):c.2772G>T (p.Arg924Ser)	ROBO4 (R924S +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 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 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 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 2367598	NM_019055.6(ROBO4):c.2722C>T (p.Arg908Trp)	ROBO4 (R908W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3315009	NM_019055.6(ROBO4):c.2656G>A (p.Ala886Thr)	ROBO4 (A741T +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 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 2383176	NM_019055.6(ROBO4):c.2471C>G (p.Pro824Arg)	ROBO4 (P679R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184826	NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter)	ROBO4 (E652* +1 more)	Single nucleotide variant (nonsense)	Thoracic aortic aneurysm	GLikely pathogenic
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 790460	NM_019055.6(ROBO4):c.2326C>T (p.Arg776Cys)	ROBO4 (R631C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely 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 2691018	NM_019055.6(ROBO4):c.2279C>T (p.Pro760Leu)	ROBO4 (P615L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 560402	NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	ROBO4 (A604L +1 more)	Indel (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 2327102	NM_019055.6(ROBO4):c.2233C>A (p.Leu745Met)	ROBO4 (L600M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 2240984	NM_019055.6(ROBO4):c.2173C>T (p.Pro725Ser)	ROBO4 (P580S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353403	NM_019055.6(ROBO4):c.2171C>T (p.Thr724Ile)	ROBO4 (T724I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2329142	NM_019055.6(ROBO4):c.2143C>T (p.Pro715Ser)	ROBO4 (P715S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394443	NM_019055.6(ROBO4):c.2135G>A (p.Arg712His)	ROBO4 (R712H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3040164	NM_019055.6(ROBO4):c.2100G>T (p.Pro700=)	ROBO4	Single nucleotide variant (synonymous variant)	ROBO4-related disorder	GLikely benign
Select item 2329701	NM_019055.6(ROBO4):c.2099C>T (p.Pro700Leu)	ROBO4 (P555L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2276817	NM_019055.6(ROBO4):c.2078T>C (p.Val693Ala)	ROBO4 (V693A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560404	NM_019055.6(ROBO4):c.2056+1G>T	ROBO4	Single nucleotide variant (splice donor variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
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 791180	NM_019055.6(ROBO4):c.2006G>A (p.Arg669Gln)	ROBO4 (R524Q +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	GLikely benign
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 1284937	NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)	ROBO4 (G517D +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3 +2 more	GBenign/Likely benign
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 2367736	NM_019055.6(ROBO4):c.1937A>G (p.Lys646Arg)	ROBO4 (K646R +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 2206151	NM_019055.6(ROBO4):c.1923G>T (p.Glu641Asp)	ROBO4 (E496D +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 1805002	NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)	ROBO4 (R489C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 560401	NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	ROBO4 (D622H +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 3315006	NM_019055.6(ROBO4):c.1840C>G (p.Leu614Val)	ROBO4 (L469V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298078	NM_019055.6(ROBO4):c.1825C>G (p.Pro609Ala)	ROBO4 (P609A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713013	NM_019055.6(ROBO4):c.1817G>A (p.Arg606His)	ROBO4 (R606H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
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 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 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 2642504	NM_019055.6(ROBO4):c.1775G>A (p.Ser592Asn)	ROBO4 (S447N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 3315011	NM_019055.6(ROBO4):c.1765C>A (p.Leu589Met)	ROBO4 (L589M +1 more)	Single nucleotide variant (missense variant)	not specified	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 2327697	NM_019055.6(ROBO4):c.1745A>T (p.Tyr582Phe)	ROBO4 (Y437F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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