ClinVar for MedGen (Select 863898) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13331581.	NM_032018.7(SPRTN):c.887C>T (p.Pro296Leu) GRCh37: Chr1:231488524 GRCh38: Chr1:231352778	SPRTN	P296L	Progeroid features-hepatocellular carcinoma predisposition syndrome	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13331572.	NM_032018.7(SPRTN):c.451-33T>C GRCh37: Chr1:231487017 GRCh38: Chr1:231351271	SPRTN		Progeroid features-hepatocellular carcinoma predisposition syndrome	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 1626283.	NM_032018.7(SPRTN):c.723del (p.Lys241fs) GRCh37: Chr1:231488358 GRCh38: Chr1:231352612	SPRTN	K241fs	Progeroid features-hepatocellular carcinoma predisposition syndrome	Pathogenic (Nov 1, 2014)	no assertion criteria provided
Select item 1439164.	NM_032018.7(SPRTN):c.350A>G (p.Tyr117Cys) GRCh37: Chr1:231483571 GRCh38: Chr1:231347825	SPRTN	Y117C	Progeroid features-hepatocellular carcinoma predisposition syndrome	Pathogenic (Nov 1, 2014)	no assertion criteria provided
Select item 1439155.	NM_032018.7(SPRTN):c.718_718+3del GRCh37: Chr1:231487316-231487319 GRCh38: Chr1:231351571-231351574	SPRTN	G197fs, G240fs	not provided	Pathogenic	criteria provided, single submitter

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