"Ambry Genetics"[submitter] AND "TEPSIN"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2261744	NM_001363764.2(TEPSIN):c.1741C>G (p.Pro581Ala)	TEPSIN, LOC105371925 (P581A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239323	NM_001363764.2(TEPSIN):c.1687G>C (p.Asp563His)	TEPSIN, LOC105371925 (D563H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364907	NM_001363764.2(TEPSIN):c.1670C>T (p.Ala557Val)	LOC105371925, TEPSIN (A489V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254717	NM_001363764.2(TEPSIN):c.1583C>T (p.Pro528Leu)	LOC105371925, TEPSIN (P460L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206925	NM_001363764.2(TEPSIN):c.1409G>A (p.Arg470Gln)	LOC105371925, TEPSIN (R402Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386398	NM_001363764.2(TEPSIN):c.1397C>T (p.Pro466Leu)	TEPSIN, LOC105371925 (P466L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2210656	NM_001363764.2(TEPSIN):c.992G>A (p.Arg331His)	TEPSIN, LOC105371925 (R263H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410737	NM_001363764.2(TEPSIN):c.887C>T (p.Pro296Leu)	TEPSIN, LOC105371925 (P228L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385371	NM_001363764.2(TEPSIN):c.784G>A (p.Gly262Ser)	LOC105371925, TEPSIN (G194S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2358330	NM_001363764.2(TEPSIN):c.361C>T (p.Arg121Cys)	TEPSIN (R121C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance