"Baylor Genetics"[submitter] AND "CUL7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027894	NM_014780.5(CUL7):c.5041C>G (p.Arg1681Gly)	CUL7 (R1713G +3 more)	Single nucleotide variant (missense variant)	3M syndrome 1	GUncertain significance
Select item 911417	NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu)	CUL7 (S1535L +3 more)	Single nucleotide variant (missense variant)	3M syndrome 1	GUncertain significance
Select item 1027893	NM_014780.5(CUL7):c.4504A>T (p.Ile1502Phe)	CUL7 (I1534F +2 more)	Single nucleotide variant (missense variant)	3M syndrome 1	GUncertain significance
Select item 828132	NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)	CUL7 (W996* +1 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GPathogenic
Select item 1027891	NM_014780.5(CUL7):c.2381T>G (p.Leu794Arg)	CUL7 (L826R +1 more)	Single nucleotide variant (missense variant)	3M syndrome 1	GUncertain significance
Select item 1025751	NM_014780.5(CUL7):c.2200C>T (p.Arg734Cys)	CUL7 (R734C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029207	NM_014780.5(CUL7):c.580+48C>T	CUL7 (R210W)	Single nucleotide variant (missense variant +1 more)	3M syndrome 1	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic

ClinVar