ClinVar for Gene (Select 6846) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333349	NM_003175.4(XCL2):c.49T>C (p.Tyr17His)	XCL2 (Y17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190960	NM_003175.4(XCL2):c.251T>C (p.Met84Thr)	XCL2 (M84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190959	NM_003175.4(XCL2):c.238G>A (p.Val80Met)	XCL2 (V80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190957	NM_003175.4(XCL2):c.221C>A (p.Ala74Asp)	XCL2 (A74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190956	NM_003175.4(XCL2):c.194G>T (p.Gly65Val)	XCL2 (G65V)	Single nucleotide variant (missense variant)	not specified	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 2639533	NM_003175.4(XCL2):c.78C>T (p.Val26=)	XCL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541341	NM_003175.4(XCL2):c.129C>A (p.Ser43Arg)	XCL2 (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537286	NM_003175.4(XCL2):c.90G>T (p.Arg30Ser)	XCL2 (R30S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461811	NM_003175.4(XCL2):c.221C>G (p.Ala74Gly)	XCL2 (A74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387232	NM_003175.4(XCL2):c.76G>A (p.Val26Ile)	XCL2 (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367690	NM_003175.4(XCL2):c.322A>T (p.Thr108Ser)	XCL2 (T108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285795	NM_003175.4(XCL2):c.28G>A (p.Gly10Ser)	XCL2 (G10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 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 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	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 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 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 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41