XBP1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 150220	GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3	CCDC117, CHEK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 2223840	NM_001079539.2(XBP1):c.674A>C (p.Tyr225Ser)	XBP1 (T184P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811701	NM_001079539.2(XBP1):c.573+1G>T	XBP1	Single nucleotide variant (splice donor variant)	Major affective disorder 7	GUncertain significance
Select item 2270948	NM_001079539.2(XBP1):c.564A>G (p.Ser188=)	XBP1 (Q147R +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 744228	NM_001079539.2(XBP1):c.453+7C>A	XBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2227944	NM_001079539.2(XBP1):c.391C>G (p.Gln131Glu)	XBP1 (Q81E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259903	NM_001079539.2(XBP1):c.343G>C (p.Glu115Gln)	XBP1 (E65Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615284	NM_001079539.2(XBP1):c.180G>C (p.Lys60Asn)	LOC130067168, XBP1 (K60N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527637	NM_001079539.2(XBP1):c.179A>C (p.Lys60Thr)	LOC130067168, XBP1 (K60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252465	NM_001079539.2(XBP1):c.172G>T (p.Ala58Ser)	LOC130067168, XBP1 (A58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1255617	NM_001079539.2(XBP1):c.44C>T (p.Pro15Leu)	LOC130067168, XBP1 (P15L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
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 12195	NC_000022.11:g.28800769G>C	XBP1	Single nucleotide variant	Major affective disorder 7, susceptibility to	Grisk factor
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	KREMEN1, MTMR3 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	CABP7, CCDC117 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	ZNRF3, CCDC117 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 832563	NC_000022.10:g.(?_29083885)_(29621477_?)del	CCDC117, CHEK2 +6 more	Deletion	Familial cancer of breast	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685157	GRCh37/hg19 22q12.1(chr22:29167380-29205638)x1	CCDC117, XBP1	Copy number loss	not provided	GUncertain significance
Select item 685123	GRCh37/hg19 22q12.1(chr22:29167380-29205638)x1	CCDC117, XBP1	Copy number loss	not provided	GUncertain significance
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	AP1B1, ASCC2 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 43