ClinVar for MedGen (Select 336440) - ClinVar - NCBI

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Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26377851.	NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs) GRCh37: Chr6:43008299-43008300 GRCh38: Chr6:43040561-43040562	CUL7	L1330fs, L1331fs, L1363fs	3-M syndrome	Pathogenic (Oct 17, 2023)	criteria provided, single submitter
Select item 18782242.	NM_014780.5(CUL7):c.3645+1G>A GRCh37: Chr6:43010539 GRCh38: Chr6:43042801	CUL7		3-M syndrome	Likely pathogenic (Dec 6, 2022)	criteria provided, single submitter
Select item 16833443.	NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) GRCh37: Chr6:43019428-43019433 GRCh38: Chr6:43051690-43051695	CUL7		3-M syndrome	Likely pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 9980184.	NM_014780.5(CUL7):c.[3129G>A;4763T>C] GRCh37: Chr6:43006015 Chr6:43012533 GRCh38: Chr6:43038277 Chr6:43044795	CUL7, CUL7	L1587P, L1588P, L1592P, L1620P, W1043, W1075	3M syndrome 1	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 9980075.	NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) GRCh37: Chr6:43006015 GRCh38: Chr6:43038277	CUL7	L1587P, L1588P, L1592P, L1620P	3-M syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 16, 2023)	criteria provided, conflicting interpretations
Select item 5875296.	NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) GRCh37: Chr6:43008060-43008062 GRCh38: Chr6:43040322-43040324	CUL7	E1376del, E1375del, E1408del	3M syndrome 1, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4255457.	NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs) GRCh37: Chr6:43013059-43013060 GRCh38: Chr6:43045321-43045322	CUL7	C982fs, C1014fs	3-M syndrome	Pathogenic (Oct 14, 2016)	no assertion criteria provided
Select item 3568498.	NM_014780.5(CUL7):c.1265G>T (p.Trp422Leu) GRCh37: Chr6:43018105 GRCh38: Chr6:43050367	CUL7	W422L, W454L	3-M syndrome, not provided	Uncertain significance (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3568369.	NM_014780.5(CUL7):c.2720T>C (p.Val907Ala) GRCh37: Chr6:43013770 GRCh38: Chr6:43046032	CUL7	V907A, V939A	3-M syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35682110.	NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln) GRCh37: Chr6:43006153 GRCh38: Chr6:43038415	CUL7	R1542Q, R1541Q, R1546Q, R1574Q	Inborn genetic diseases, 3-M syndrome, not provided	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33454411.	NM_015311.3(OBSL1):c.-43del GRCh37: Chr2:220435997 GRCh38: Chr2:219571275	OBSL1		3-M syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33454212.	NM_015311.3(OBSL1):c.-43dup GRCh37: Chr2:220435996-220435997 GRCh38: Chr2:219571274-219571275	OBSL1		3-M syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33454113.	NM_015311.3(OBSL1):c.-43_-42del GRCh37: Chr2:220435996-220435997 GRCh38: Chr2:219571274-219571275	OBSL1		3-M syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33454014.	NM_015311.3(OBSL1):c.-42del GRCh37: Chr2:220435996 GRCh38: Chr2:219571274	OBSL1		3-M syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33445815.	NM_015311.3(OBSL1):c.102_103insTA GRCh37: Chr2:220415454-220415455 GRCh38: Chr2:219550732-219550733	OBSL1		3-M syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 19465716.	NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) GRCh37: Chr6:43012621 GRCh38: Chr6:43044883	CUL7	L1014R, L1098R, L1046R	Inborn genetic diseases, 3-M syndrome, not provided, 3M syndrome 1	Conflicting interpretations of pathogenicity (Jun 8, 2023)	criteria provided, conflicting interpretations
Select item 161417.	NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) GRCh37: Chr6:43006629 GRCh38: Chr6:43038891	CUL7	H1464P, H1463P, H1496P	3-M syndrome	Pathogenic (Jul 15, 2022)	criteria provided, single submitter