XCL1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 151207	GRCh38/hg38 1q24.2(chr1:168480792-168743193)x1	DPT, LOC101928565 +6 more	Copy number loss	See cases	GUncertain significance
Select item 149155	GRCh38/hg38 1q24.2(chr1:168498046-169184625)x4	ATP1B1, DPT +19 more	Copy number gain	See cases	GUncertain significance
Select item 2609513	NM_002995.3(XCL1):c.68G>C (p.Gly23Ala)	XCL1 (G23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407211	NM_002995.3(XCL1):c.190C>T (p.Arg64Cys)	XCL1 (R64C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495496	NM_002995.3(XCL1):c.226T>C (p.Trp76Arg)	XCL1 (W76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780276	NM_002995.3(XCL1):c.316A>T (p.Thr106Ser)	XCL1 (T106S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2308879	NM_002995.3(XCL1):c.323C>T (p.Thr108Ile)	XCL1 (T108I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527370	GRCh37/hg19 1q24.2(chr1:168439652-168712431)	DPT, XCL1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979303	GRCh37/hg19 1q24.2(chr1:168439652-168708525)x1	DPT, XCL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 686398	GRCh37/hg19 1q24.2(chr1:168444195-168708524)x1	DPT, XCL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686162	GRCh37/hg19 1q24.2(chr1:168456873-169183290)x4	ATP1B1, DPT +3 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565195	GRCh37/hg19 1q24.2(chr1:168237529-168654803)x4	TBX19, XCL1 +1 more	Copy number gain	not provided	GLikely benign
Select item 442609	GRCh37/hg19 1q24.2(chr1:168439652-168712431)x1	DPT, XCL1 +1 more	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 395600	GRCh37/hg19 1q24.2(chr1:168510351-168550309)x3	XCL1, XCL2	Copy number gain	See cases	GLikely benign
Select item 226131	GRCh37/hg19 1q24.2(chr1:168441289-168697617)	XCL2, DPT +1 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 34