Related gene-specific medical variations for Gene (Select 9159) - ClinVar - NCBI

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

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642406	NM_004716.4(PCSK7):c.1917C>T (p.His639=)	TAGLN, PCSK7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2544616	NM_004716.4(PCSK7):c.2060A>G (p.Tyr687Cys)	PCSK7, TAGLN (Y687C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470863	NM_004716.4(PCSK7):c.2288A>C (p.Asn763Thr)	PCSK7, TAGLN (N763T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308300	NM_004716.4(PCSK7):c.1853G>C (p.Ser618Thr)	PCSK7, TAGLN (S618T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308185	NM_004716.4(PCSK7):c.1510C>T (p.Arg504Cys)	PCSK7, LOC126861352 (R504C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289208	NM_004716.4(PCSK7):c.1462T>C (p.Tyr488His)	LOC126861352, PCSK7 (Y488H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261270	NM_004716.4(PCSK7):c.2053G>A (p.Glu685Lys)	PCSK7, TAGLN (E685K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238664	NM_004716.4(PCSK7):c.2284C>G (p.Gln762Glu)	PCSK7, TAGLN (Q762E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790849	NM_004716.4(PCSK7):c.2330C>T (p.Pro777Leu)	PCSK7, TAGLN (P777L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign