ClinVar for MedGen (Select 903881) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24388771.	NM_198569.3(ADGRG6):c.2180C>G (p.Pro727Arg) GRCh37: Chr6:142726877 GRCh38: Chr6:142405740	ADGRG6	P699R, P727R	Lethal congenital contracture syndrome 9	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 13427042.	NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter) GRCh37: Chr6:142726916 GRCh38: Chr6:142405779	ADGRG6	L712, L740	Lethal congenital contracture syndrome 9	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 10293483.	NM_198569.3(ADGRG6):c.2470G>C (p.Ala824Pro) GRCh37: Chr6:142732477 GRCh38: Chr6:142411340	ADGRG6	A824P, A796P	Lethal congenital contracture syndrome 9	Uncertain significance (Jan 16, 2020)	criteria provided, single submitter
Select item 8022794.	NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg) GRCh37: Chr6:142758631 GRCh38: Chr6:142437494	ADGRG6	Q1127R, Q1099R	Lethal congenital contracture syndrome 9	Benign (May 28, 2019)	criteria provided, single submitter
Select item 8022785.	NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=) GRCh37: Chr6:142718801 GRCh38: Chr6:142397664	ADGRG6		Lethal congenital contracture syndrome 9	Benign (May 28, 2019)	criteria provided, single submitter
Select item 7914516.	NM_198569.3(ADGRG6):c.354A>G (p.Leu118=) GRCh37: Chr6:142688956 GRCh38: Chr6:142367819	ADGRG6		Lethal congenital contracture syndrome 9, not provided	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1923497.	NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) GRCh37: Chr6:142729324 GRCh38: Chr6:142408187	ADGRG6	V769E	Arthrogryposis multiplex congenita	Pathogenic (Dec 1, 2014)	criteria provided, single submitter
Select item 1923488.	NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) GRCh37: Chr6:142726839-142726840 GRCh38: Chr6:142405702-142405703	ADGRG6	Q688fs, Q716fs	Arthrogryposis multiplex congenita	Pathogenic (Dec 1, 2014)	criteria provided, single submitter
Select item 1923479.	NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) GRCh37: Chr6:142630697 GRCh38: Chr6:142309560	ADGRG6	R7*	Arthrogryposis multiplex congenita	Pathogenic (Dec 1, 2014)	criteria provided, single submitter