ClinVar for MedGen (Select 462340) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 19116861.	NM_002979.5(SCP2):c.588dup GRCh37: Chr1:53442353-53442354 GRCh38: Chr1:52976681-52976682	SCP2		Sterol carrier protein 2 deficiency, not provided	Pathogenic/Likely pathogenic (Jul 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16101632.	NM_002979.5(SCP2):c.973+15T>G GRCh37: Chr1:53446230 GRCh38: Chr1:52980558	SCP2		Sterol carrier protein 2 deficiency, not provided	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10505893.	NM_002979.5(SCP2):c.572A>G (p.His191Arg) GRCh37: Chr1:53440489 GRCh38: Chr1:52974817	SCP2	H110R, H147R, H167R, H191R	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 10339664.	NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter) GRCh37: Chr1:53480591 GRCh38: Chr1:53014919	SCP2	Q371, Q327, Q290, Q347	Sterol carrier protein 2 deficiency, not provided	Pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9772315.	NM_002979.5(SCP2):c.886C>T (p.Pro296Ser) GRCh37: Chr1:53446128 GRCh38: Chr1:52980456	SCP2	P215S, P252S, P272S, P296S	Sterol carrier protein 2 deficiency	Uncertain significance (Jan 26, 2020)	criteria provided, single submitter
Select item 8014916.	NM_002979.5(SCP2):c.70-47del GRCh37: Chr1:53407407 GRCh38: Chr1:52941735	SCP2		not provided, Sterol carrier protein 2 deficiency	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5945617.	NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly) GRCh37: Chr1:53480714 GRCh38: Chr1:53015042	SCP2	S412G, R8G, S368G, S331G, S388G, S8G	not provided	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5850308.	NM_002979.5(SCP2):c.825G>T (p.Met275Ile) GRCh37: Chr1:53444039 GRCh38: Chr1:52978367	SCP2	M275I, M194I, M231I, M251I	Sterol carrier protein 2 deficiency	not provided	no assertion provided
Select item 4885909.	NM_002979.5(SCP2):c.825+1G>T GRCh37: Chr1:53444040 GRCh38: Chr1:52978368	SCP2		Sterol carrier protein 2 deficiency, SCP2-related condition, not provided	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1281010.	NM_002979.5(SCP2):c.550dup (p.Ile184fs) GRCh37: Chr1:53440462-53440463 GRCh38: Chr1:52974790-52974791	SCP2	I103fs, I140fs, I160fs, I184fs	not provided	Pathogenic (May 20, 2022)	criteria provided, single submitter