ClinVar for Gene (Select 11240) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2617951	NM_007365.3(PADI2):c.1232T>C (p.Leu411Pro)	PADI2 (L411P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608437	NM_007365.3(PADI2):c.868G>A (p.Val290Met)	PADI2 (V290M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597958	NM_007365.3(PADI2):c.1655G>A (p.Arg552His)	PADI2 (R552H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548640	NM_007365.3(PADI2):c.1579A>T (p.Thr527Ser)	PADI2 (T527S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546559	NM_007365.3(PADI2):c.1171G>A (p.Gly391Ser)	PADI2 (G391S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536700	NM_007365.3(PADI2):c.1542G>T (p.Met514Ile)	PADI2 (M514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531041	NM_007365.3(PADI2):c.761G>A (p.Gly254Asp)	PADI2 (G254D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530738	NM_007365.3(PADI2):c.1792C>G (p.Leu598Val)	PADI2 (L598V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525523	NM_007365.3(PADI2):c.1730A>C (p.Glu577Ala)	PADI2 (E577A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522691	NM_007365.3(PADI2):c.1040G>A (p.Arg347His)	PADI2 (R347H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512467	NM_007365.3(PADI2):c.878G>A (p.Arg293Gln)	PADI2 (R293Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512244	NM_007365.3(PADI2):c.64G>T (p.Gly22Cys)	LOC129929544, PADI2 (G22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478076	NM_007365.3(PADI2):c.940A>T (p.Met314Leu)	PADI2 (M314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463778	NM_007365.3(PADI2):c.116C>A (p.Thr39Asn)	PADI2 (T39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463257	NM_007365.3(PADI2):c.1463T>G (p.Leu488Arg)	PADI2 (L488R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2454590	NM_007365.3(PADI2):c.106G>C (p.Gly36Arg)	PADI2 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2403249	NM_007365.3(PADI2):c.1942G>A (p.Gly648Ser)	PADI2 (G648S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401575	NM_007365.3(PADI2):c.1603G>A (p.Glu535Lys)	PADI2 (E535K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396876	NM_007365.3(PADI2):c.134C>T (p.Ser45Leu)	PADI2 (S45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365422	NM_007365.3(PADI2):c.153G>C (p.Glu51Asp)	PADI2 (E51D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349220	NM_007365.3(PADI2):c.1075G>A (p.Glu359Lys)	PADI2 (E359K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344321	NM_007365.3(PADI2):c.142G>A (p.Val48Met)	PADI2 (V48M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311913	NM_007365.3(PADI2):c.1734C>A (p.Asp578Glu)	PADI2 (D578E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290037	NM_007365.3(PADI2):c.522C>G (p.Ser174Arg)	PADI2 (S174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285620	NM_007365.3(PADI2):c.445G>A (p.Ala149Thr)	PADI2 (A149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280524	NM_007365.3(PADI2):c.1177G>A (p.Val393Met)	PADI2 (V393M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273725	NM_007365.3(PADI2):c.853A>G (p.Ile285Val)	PADI2 (I285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266500	NM_007365.3(PADI2):c.7C>A (p.Arg3Ser)	LOC129929544, PADI2 (R3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234107	NM_007365.3(PADI2):c.10G>A (p.Glu4Lys)	LOC129929544, PADI2 (E4K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1807880	GRCh37/hg19 1p36.13(chr1:17366386-17491556)x3	PADI2, SDHB	Copy number gain	not provided	GUncertain significance
Select item 1341268	GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1	ATP13A2, CROCC +8 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1340301	GRCh37/hg19 1p36.13(chr1:17366386-17501904)x3	PADI2, SDHB	Copy number gain	not provided	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 972891	NM_007365.3(PADI2):c.92+1006C>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972890	NM_007365.3(PADI2):c.729T>G (p.Gly243=)	PADI2	Single nucleotide variant (synonymous variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972888	NM_007365.3(PADI2):c.*258A>T	PADI2	Single nucleotide variant (3 prime UTR variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 788500	NM_007365.3(PADI2):c.342A>G (p.Thr114=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783278	NM_007365.3(PADI2):c.1881C>T (p.Leu627=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782973	NM_007365.3(PADI2):c.1018C>T (p.Gln340Ter)	PADI2 (Q340*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 777322	NM_007365.3(PADI2):c.723C>T (p.Tyr241=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773390	NM_007365.3(PADI2):c.1413C>T (p.His471=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767659	NM_007365.3(PADI2):c.698G>A (p.Arg233Gln)	PADI2 (R233Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729657	NM_007365.3(PADI2):c.1872C>T (p.Pro624=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688628	GRCh37/hg19 1p36.13(chr1:17298230-17542448)x3	ATP13A2, CROCC +4 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584021	NC_000001.11:g.(?_17018881)_(17071491_?)del	LOC129929541, LOC129929542 +3 more	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	not provided	GUncertain significance
Select item 443020	GRCh37/hg19 1p36.13(chr1:17366385-17440734)x3	PADI2, SDHB	Copy number gain	See cases	GUncertain significance
Select item 442740	GRCh37/hg19 1p36.13(chr1:17366385-17397018)x3	PADI2, SDHB	Copy number gain	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 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	ACTL8, AKR7A2 +206 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 18456	NC_000001.10:g.17376556_17396932del20377	LOC129929542, LOC129929543 +2 more	Deletion	Paragangliomas 4	GPathogenic

ClinVar

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Links from Gene

Items: 68