ClinVar for MedGen (Select 90977) - ClinVar

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Items: 28

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8278451.	NM_005450.6(NOG):c.64dup (p.Ala22fs) GRCh37: Chr17:54671645-54671646 GRCh38: Chr17:56594284-56594285	NOG	A22fs	Symphalangism-brachydactyly syndrome	Pathogenic (Dec 6, 2019)	criteria provided, single submitter
Select item 3752952.	NM_005450.6(NOG):c.611G>A (p.Arg204Gln) GRCh37: Chr17:54672195 GRCh38: Chr17:56594834	NOG	R204Q	not provided, Tarsal-carpal coalition syndrome	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 3383243.	NM_000557.5(GDF5):c.-30C>A GRCh37: Chr20:34025738 GRCh38: Chr20:35437958	GDF5, LOC109461476		Symphalangism-brachydactyly syndrome, Acromesomelic dysplasia 2B, Brachydactyly, Acromesomelic dysplasia, Chondrodysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3114694.	NM_002010.3(FGF9):c.*2497del GRCh37: Chr13:22278070 GRCh38: Chr13:21703931	FGF9		Symphalangism-brachydactyly syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3114685.	NM_002010.3(FGF9):c.*2463dup GRCh37: Chr13:22278024-22278025 GRCh38: Chr13:21703885-21703886	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3114656.	NM_002010.3(FGF9):c.*2210del GRCh37: Chr13:22277775 GRCh38: Chr13:21703636	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3114587.	NM_002010.3(FGF9):c.*1507A>G GRCh37: Chr13:22277081 GRCh38: Chr13:21702942	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3114458.	NM_002010.3(FGF9):c.*479CTTA[1] GRCh37: Chr13:22276053-22276056 GRCh38: Chr13:21701914-21701917	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3114439.	NM_002010.3(FGF9):c.*435C>T GRCh37: Chr13:22276009 GRCh38: Chr13:21701870	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143710.	NM_002010.3(FGF9):c.*276GT[14] GRCh37: Chr13:22275849-22275850 GRCh38: Chr13:21701710-21701711	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143611.	NM_002010.3(FGF9):c.*276GT[19] GRCh37: Chr13:22275848-22275849 GRCh38: Chr13:21701709-21701710	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143512.	NM_002010.3(FGF9):c.*276GT[16] GRCh37: Chr13:22275848-22275849 GRCh38: Chr13:21701709-21701710	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143413.	NM_002010.3(FGF9):c.274_275del GRCh37: Chr13:22275847-22275848 GRCh38: Chr13:21701708-21701709	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143314.	NM_002010.3(FGF9):c.274_277del GRCh37: Chr13:22275845-22275848 GRCh38: Chr13:21701706-21701709	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143215.	NM_002010.3(FGF9):c.274_279del GRCh37: Chr13:22275843-22275848 GRCh38: Chr13:21701704-21701709	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31143016.	NM_002010.3(FGF9):c.*266GT[5] GRCh37: Chr13:22275839-22275840 GRCh38: Chr13:21701700-21701701	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31142017.	NM_002010.3(FGF9):c.-37dup GRCh37: Chr13:22246014-22246015 GRCh38: Chr13:21671875-21671876	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31141818.	NM_002010.3(FGF9):c.-116dup GRCh37: Chr13:22245935-22245936 GRCh38: Chr13:21671796-21671797	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31141719.	NM_002010.3(FGF9):c.-118_-117insC GRCh37: Chr13:22245934-22245935 GRCh38: Chr13:21671795-21671796	FGF9		Symphalangism-brachydactyly syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31141620.	NM_002010.3(FGF9):c.-118_-117dup GRCh37: Chr13:22245927-22245928 GRCh38: Chr13:21671788-21671789	FGF9		Symphalangism-brachydactyly syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31141521.	NM_002010.3(FGF9):c.-117dup GRCh37: Chr13:22245927-22245928 GRCh38: Chr13:21671788-21671789	FGF9		Symphalangism-brachydactyly syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31141122.	NM_002010.3(FGF9):c.-335del GRCh37: Chr13:22245710 GRCh38: Chr13:21671571	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31140723.	NM_002010.3(FGF9):c.-585dup GRCh37: Chr13:22245461-22245462 GRCh38: Chr13:21671322-21671323	FGF9		Symphalangism-brachydactyly syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3029024.	NM_005450.6(NOG):c.696C>G (p.Cys232Trp) GRCh37: Chr17:54672280 GRCh38: Chr17:56594919	NOG	C232W	Symphalangism-brachydactyly syndrome	Pathogenic (Jun 1, 2010)	no assertion criteria provided
Select item 670725.	NM_005450.6(NOG):c.615G>C (p.Trp205Cys) GRCh37: Chr17:54672199 GRCh38: Chr17:56594838	NOG	W205C	Symphalangism-brachydactyly syndrome	Pathogenic (Apr 1, 2005)	no assertion criteria provided
Select item 670626.	NM_005450.6(NOG):c.614G>A (p.Trp205Ter) GRCh37: Chr17:54672198 GRCh38: Chr17:56594837	NOG	W205*	Symphalangism-brachydactyly syndrome	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 670127.	NM_005450.6(NOG):c.58del (p.Leu20fs) GRCh37: Chr17:54671642 GRCh38: Chr17:56594281	NOG	L20fs	Symphalangism-brachydactyly syndrome	Pathogenic (Dec 1, 2001)	no assertion criteria provided
Select item 669328.	NM_005450.6(NOG):c.649T>G (p.Trp217Gly) GRCh37: Chr17:54672233 GRCh38: Chr17:56594872	NOG	W217G	Symphalangism-brachydactyly syndrome	Pathogenic (Mar 1, 1999)	no assertion criteria provided

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Items: 28