"PreventionGenetics, part of Exact Sciences"[submitter] AND "CUL7"[gen - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1909748	NM_014780.5(CUL7):c.4917C>T (p.Asp1639=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3050745	NM_014780.5(CUL7):c.4774-6C>T	CUL7	Single nucleotide variant (intron variant)	CUL7-related disorder	GLikely benign
Select item 1169930	NM_014780.5(CUL7):c.4731C>T (p.Ala1577=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder +1 more	GBenign/Likely benign
Select item 290743	NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3058242	NM_014780.5(CUL7):c.4617C>T (p.Asp1539=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 356822	NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro)	CUL7 (L1488P +2 more)	Single nucleotide variant (missense variant)	3M syndrome 1 +2 more	GBenign
Select item 1615	NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs)	CUL7 (V1483fs +2 more)	Microsatellite (frameshift variant)	3M syndrome 1 +1 more	GPathogenic
Select item 741051	NM_014780.5(CUL7):c.4431C>T (p.Asn1477=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 727945	NM_014780.5(CUL7):c.4104G>A (p.Ala1368=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder +1 more	GLikely benign
Select item 908445	NM_014780.5(CUL7):c.4059C>T (p.Ser1353=)	CUL7	Single nucleotide variant (synonymous variant)	3M syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 260441	NM_014780.5(CUL7):c.3993G>A (p.Leu1331=)	CUL7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260440	NM_014780.5(CUL7):c.3876C>T (p.Ile1292=)	CUL7	Single nucleotide variant (synonymous variant)	3M syndrome 1 +2 more	GBenign/Likely benign
Select item 735879	NM_014780.5(CUL7):c.3768C>T (p.Ser1256=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 282091	NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 281912	NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln)	CUL7 (R1232Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3056970	NM_014780.5(CUL7):c.3645+34C>A	CUL7	Single nucleotide variant (intron variant)	CUL7-related disorder	GLikely benign
Select item 260439	NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3032333	NM_014780.5(CUL7):c.3398G>A (p.Arg1133Gln)	CUL7 (R1132Q +2 more)	Single nucleotide variant (missense variant)	CUL7-related disorder	GUncertain significance
Select item 2398447	NM_014780.5(CUL7):c.3257G>A (p.Gly1086Asp)	CUL7 (G1086D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 712634	NM_014780.5(CUL7):c.3049G>A (p.Ala1017Thr)	CUL7 (A1049T +1 more)	Single nucleotide variant (missense variant)	CUL7-related disorder +1 more	GLikely benign
Select item 3058423	NM_014780.5(CUL7):c.2877G>A (p.Thr959=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 282333	NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)	CUL7 (G872S +1 more)	Single nucleotide variant (missense variant)	CUL7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 356838	NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser)	CUL7 (N868S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 260437	NM_014780.5(CUL7):c.2439A>G (p.Gln813=)	CUL7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260435	NM_014780.5(CUL7):c.2438_2439delinsGG (p.Gln813Arg)	CUL7 (Q813R +1 more)	Indel (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 260436	NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg)	CUL7 (Q813R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 356843	NM_014780.5(CUL7):c.2115C>T (p.His705=)	CUL7	Single nucleotide variant (synonymous variant)	3M syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1093739	NM_014780.5(CUL7):c.2064-5C>T	CUL7	Single nucleotide variant (intron variant)	CUL7-related disorder +1 more	GLikely benign
Select item 1621158	NM_014780.5(CUL7):c.2064-7C>T	CUL7	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 712373	NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln)	CUL7 (R693Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 502473	NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu)	CUL7 (P620L +1 more)	Single nucleotide variant (missense variant)	CUL7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1605074	NM_014780.5(CUL7):c.1782G>C (p.Ala594=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 592977	NM_014780.5(CUL7):c.1782G>A (p.Ala594=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260434	NM_014780.5(CUL7):c.1590A>C (p.Leu530=)	CUL7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 284608	NM_014780.5(CUL7):c.1570-8G>A	CUL7	Single nucleotide variant (intron variant)	CUL7-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 774866	NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del)	CUL7 (E423del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 502465	NM_014780.5(CUL7):c.1067G>A (p.Arg356His)	CUL7 (R356H +1 more)	Single nucleotide variant (missense variant)	CUL7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 260442	NM_014780.5(CUL7):c.861G>A (p.Gly287=)	CUL7	Single nucleotide variant (synonymous variant)	3M syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 3042430	NM_014780.5(CUL7):c.816G>A (p.Ala272=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3053742	NM_014780.5(CUL7):c.789C>A (p.Leu263=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3060234	NM_014780.5(CUL7):c.711C>T (p.Phe237=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 756424	NM_014780.5(CUL7):c.687G>A (p.Thr229=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 756046	NM_014780.5(CUL7):c.426C>T (p.His142=)	CUL7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260438	NM_014780.5(CUL7):c.339C>T (p.Asp113=)	CUL7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3058226	NM_014780.5(CUL7):c.123T>C (p.Arg41=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 2633441	NM_014780.5(CUL7):c.97G>A (p.Asp33Asn)	CUL7 (D33N)	Single nucleotide variant (missense variant)	CUL7-related disorder	GUncertain significance

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Items: 46