Related gene-specific medical variations for Gene (Select 55151) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245361	NC_000009.11:g.(?_108510334)_(108536361_?)del	TMEM38B	Deletion	not provided	GUncertain significance
Select item 3245360	NC_000009.11:g.(?_108456942)_(108468054_?)del	TMEM38B	Deletion	not provided	GPathogenic
Select item 3245359	NC_000009.11:g.(?_108467858)_(108468054_?)del	TMEM38B	Deletion	not provided	GPathogenic
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 3063086	GRCh37/hg19 9q31.2(chr9:108443820-108476067)x1	TMEM38B	Copy number loss	not specified	GUncertain significance
Select item 1527541	GRCh37/hg19 9q31.2(chr9:108494774-108528915)	TMEM38B	Copy number loss	not specified	GUncertain significance
Select item 1271405	NM_018112.3(TMEM38B):c.-54A>C	LOC130002290, TMEM38B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 688413	GRCh37/hg19 9q31.2(chr9:108444651-108476067)x1	TMEM38B	Copy number loss	not provided	GPathogenic
Select item 688394	GRCh37/hg19 9q31.2(chr9:108444651-108476067)x1	TMEM38B	Copy number loss	not provided	GPathogenic
Select item 155632	GRCh38/hg38 9q31.2(chr9:105721899-105741297)x0	TMEM38B	Copy number loss	See cases	GPathogenic