ClinVar for MedGen (Select 6009) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17035711.	GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788) GRCh37: Chr8:79982581-80674788	STMN2		Langer-Giedion syndrome	Pathogenic	no assertion criteria provided
Select item 4190642.	NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) GRCh37: Chr8:116430655-116430656 GRCh38: Chr8:115418427-115418428	TRPS1	C900fs, C909fs, C902fs, C896fs	Langer-Giedion syndrome, not provided	Pathogenic (Jun 1, 2015)	criteria provided, multiple submitters, no conflicts
Select item 3616753.	NM_000127.3(EXT1):c.-642G>A GRCh37: Chr8:119123927 GRCh38: Chr8:118111688	EXT1		Multiple congenital exostosis, Langer-Giedion syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 2677464.	NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) GRCh37: Chr8:116616566 GRCh38: Chr8:115604339	TRPS1	R544, R535, R531, R537	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I, Langer-Giedion syndrome, not provided	Pathogenic (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1342005.	NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) GRCh37: Chr8:118834761 GRCh38: Chr8:117822522	EXT1	V454I	Exostoses, multiple, type 1, Langer-Giedion syndrome, Multiple congenital exostosis	Conflicting interpretations of pathogenicity (Jul 7, 2023)	criteria provided, conflicting interpretations

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