Related gene-specific medical variations for Gene (Select 7494) - 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 3190947	NM_001079539.2(XBP1):c.190C>T (p.Leu64Phe)	LOC130067168, XBP1 (L64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190946	NM_001079539.2(XBP1):c.151G>A (p.Ala51Thr)	LOC130067168, XBP1 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615284	NM_001079539.2(XBP1):c.180G>C (p.Lys60Asn)	LOC130067168, XBP1 (K60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527637	NM_001079539.2(XBP1):c.179A>C (p.Lys60Thr)	LOC130067168, XBP1 (K60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252465	NM_001079539.2(XBP1):c.172G>T (p.Ala58Ser)	LOC130067168, XBP1 (A58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255618	NM_001079539.2(XBP1):c.12_14dup (p.Ala7dup)	LOC130067168, XBP1	Duplication (inframe_insertion)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1255617	NM_001079539.2(XBP1):c.44C>T (p.Pro15Leu)	LOC130067168, XBP1 (P15L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1255615	NM_001079539.2(XBP1):c.95C>T (p.Ala32Val)	LOC130067168, XBP1 (A32V)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 811701	NM_001079539.2(XBP1):c.573+1G>T	XBP1	Single nucleotide variant (splice donor variant)	Major affective disorder 7	GUncertain significance