ClinVar for MedGen (Select 767342) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064997	NM_018112.3(TMEM38B):c.455-64_542+7del	TMEM38B	Deletion (splice acceptor variant +1 more)	Osteogenesis imperfecta type 14	GLikely pathogenic
Select item 1540962	NM_018112.3(TMEM38B):c.875A>G (p.Ter292=)	TMEM38B	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 14 +1 more	GLikely benign
Select item 1323694	NM_018112.3(TMEM38B):c.507G>A (p.Trp169Ter)	TMEM38B (W169*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1299480	NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr)	TMEM38B (I221T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 14 +2 more	GConflicting classifications of pathogenicity
Select item 1202024	NM_018112.3(TMEM38B):c.750G>A (p.Pro250=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1029513	NM_018112.3(TMEM38B):c.543-10T>G	TMEM38B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931131	NM_018112.3(TMEM38B):c.661-8del	TMEM38B	Deletion (intron variant)	TMEM38B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 713913	NM_018112.3(TMEM38B):c.113-7A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 708103	NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile)	TMEM38B (V267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 39494	NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA	TMEM38B	Indel	Osteogenesis imperfecta type 14	GPathogenic