Related gene-specific medical variations for Gene (Select 5651) - ClinVar

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

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248180	NC_000021.8:g.(?_19651261)_(19653558_?)dup	TMPRSS15	Duplication	not provided	GLikely pathogenic
Select item 3248179	NC_000021.8:g.(?_19653337)_(19666989_?)dup	TMPRSS15	Duplication	not provided	GLikely pathogenic
Select item 3068205	NM_002772.3(TMPRSS15):c.2765-2A>G	TMPRSS15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3064855	NM_002772.3(TMPRSS15):c.2809delinsATCA (p.Ser937delinsIleThr)	TMPRSS15	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2437121	NM_002772.3(TMPRSS15):c.1170A>C (p.Ser390=)	TMPRSS15	Single nucleotide variant (synonymous variant)	Enterokinase deficiency	GUncertain significance
Select item 1251988	NM_002772.3(TMPRSS15):c.2808_2809insATCA (p.Ser937fs)	TMPRSS15 (S937fs)	Insertion (frameshift variant)	Enterokinase deficiency	GPathogenic
Select item 979745	GRCh37/hg19 21q21.1(chr21:19693463-22077644)x3	TMPRSS15	Copy number gain	not provided	GLikely benign
Select item 816148	GRCh37/hg19 21q21.1(chr21:19751422-22077644)x3	TMPRSS15	Copy number gain	not provided	GLikely benign
Select item 687339	GRCh37/hg19 21q21.1(chr21:19721193-19802272)x3	TMPRSS15	Copy number gain	not provided	GUncertain significance
Select item 523101	NM_002772.3(TMPRSS15):c.151_155del (p.Ala51fs)	TMPRSS15 (A51fs)	Deletion (frameshift variant)	Enterokinase deficiency	GLikely pathogenic