Related gene-specific medical variations for Gene (Select 116461) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183586	NM_052965.4(TSEN15):c.40A>G (p.Ser14Gly)	LOC112577522, TSEN15 (S14G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183584	NM_052965.4(TSEN15):c.31C>A (p.Pro11Thr)	LOC112577522, TSEN15 (P11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183583	NM_052965.4(TSEN15):c.22G>C (p.Glu8Gln)	LOC112577522, TSEN15 (E8Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057340	NM_052965.4(TSEN15):c.46C>A (p.Leu16Met)	LOC112577522, TSEN15 (L16M)	Single nucleotide variant (missense variant +1 more)	TSEN15-related disorder	GLikely benign
Select item 3038526	NM_052965.4(TSEN15):c.-5C>T	LOC112577522, TSEN15	Single nucleotide variant (5 prime UTR variant +1 more)	TSEN15-related disorder	GLikely benign
Select item 2492468	NM_052965.4(TSEN15):c.13G>A (p.Gly5Ser)	LOC112577522, TSEN15 (G5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478888	NM_052965.4(TSEN15):c.28A>G (p.Thr10Ala)	LOC112577522, TSEN15 (T10A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1317347	NM_052965.4(TSEN15):c.36C>T (p.Gly12=)	LOC112577522, TSEN15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

ClinVar