PADI2[gene] and "single gene"[properties] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3303904	NM_007365.3(PADI2):c.1955G>A (p.Arg652His)	PADI2 (R652H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403249	NM_007365.3(PADI2):c.1942G>A (p.Gly648Ser)	PADI2 (G648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783278	NM_007365.3(PADI2):c.1881C>T (p.Leu627=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729657	NM_007365.3(PADI2):c.1872C>T (p.Pro624=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207946	NM_007365.3(PADI2):c.1855C>T (p.Arg619Cys)	PADI2 (R619C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207945	NM_007365.3(PADI2):c.1852G>A (p.Val618Met)	PADI2 (V618M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530738	NM_007365.3(PADI2):c.1792C>G (p.Leu598Val)	PADI2 (L598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311913	NM_007365.3(PADI2):c.1734C>A (p.Asp578Glu)	PADI2 (D578E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525523	NM_007365.3(PADI2):c.1730A>C (p.Glu577Ala)	PADI2 (E577A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303905	NM_007365.3(PADI2):c.1729G>A (p.Glu577Lys)	PADI2 (E577K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597958	NM_007365.3(PADI2):c.1655G>A (p.Arg552His)	PADI2 (R552H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401575	NM_007365.3(PADI2):c.1603G>A (p.Glu535Lys)	PADI2 (E535K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548640	NM_007365.3(PADI2):c.1579A>T (p.Thr527Ser)	PADI2 (T527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207944	NM_007365.3(PADI2):c.1542G>A (p.Met514Ile)	PADI2 (M514I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536700	NM_007365.3(PADI2):c.1542G>T (p.Met514Ile)	PADI2 (M514I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463257	NM_007365.3(PADI2):c.1463T>G (p.Leu488Arg)	PADI2 (L488R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207943	NM_007365.3(PADI2):c.1447G>A (p.Gly483Ser)	PADI2 (G483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773390	NM_007365.3(PADI2):c.1413C>T (p.His471=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3303908	NM_007365.3(PADI2):c.1321C>T (p.Arg441Trp)	PADI2 (R441W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303910	NM_007365.3(PADI2):c.1286T>C (p.Ile429Thr)	PADI2 (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617951	NM_007365.3(PADI2):c.1232T>C (p.Leu411Pro)	PADI2 (L411P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207942	NM_007365.3(PADI2):c.1223T>C (p.Phe408Ser)	PADI2 (F408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280524	NM_007365.3(PADI2):c.1177G>A (p.Val393Met)	PADI2 (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546559	NM_007365.3(PADI2):c.1171G>A (p.Gly391Ser)	PADI2 (G391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 3207941	NM_007365.3(PADI2):c.1118G>A (p.Arg373Gln)	PADI2 (R373Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349220	NM_007365.3(PADI2):c.1075G>A (p.Glu359Lys)	PADI2 (E359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522691	NM_007365.3(PADI2):c.1040G>A (p.Arg347His)	PADI2 (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303911	NM_007365.3(PADI2):c.1039C>T (p.Arg347Cys)	PADI2 (R347C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207940	NM_007365.3(PADI2):c.1036G>A (p.Asp346Asn)	PADI2 (D346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782973	NM_007365.3(PADI2):c.1018C>T (p.Gln340Ter)	PADI2 (Q340*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2478076	NM_007365.3(PADI2):c.940A>T (p.Met314Leu)	PADI2 (M314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207947	NM_007365.3(PADI2):c.887C>T (p.Pro296Leu)	PADI2 (P296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512467	NM_007365.3(PADI2):c.878G>A (p.Arg293Gln)	PADI2 (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608437	NM_007365.3(PADI2):c.868G>A (p.Val290Met)	PADI2 (V290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303906	NM_007365.3(PADI2):c.860C>T (p.Thr287Met)	PADI2 (T287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273725	NM_007365.3(PADI2):c.853A>G (p.Ile285Val)	PADI2 (I285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303907	NM_007365.3(PADI2):c.807T>A (p.His269Gln)	PADI2 (H269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531041	NM_007365.3(PADI2):c.761G>A (p.Gly254Asp)	PADI2 (G254D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 777322	NM_007365.3(PADI2):c.723C>T (p.Tyr241=)	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 2290037	NM_007365.3(PADI2):c.522C>G (p.Ser174Arg)	PADI2 (S174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303909	NM_007365.3(PADI2):c.468C>A (p.Asp156Glu)	PADI2 (D156E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285620	NM_007365.3(PADI2):c.445G>A (p.Ala149Thr)	PADI2 (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788500	NM_007365.3(PADI2):c.342A>G (p.Thr114=)	PADI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3303903	NM_007365.3(PADI2):c.202C>T (p.Arg68Cys)	PADI2 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365422	NM_007365.3(PADI2):c.153G>C (p.Glu51Asp)	PADI2 (E51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344321	NM_007365.3(PADI2):c.142G>A (p.Val48Met)	PADI2 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396876	NM_007365.3(PADI2):c.134C>T (p.Ser45Leu)	PADI2 (S45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463778	NM_007365.3(PADI2):c.116C>A (p.Thr39Asn)	PADI2 (T39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454590	NM_007365.3(PADI2):c.106G>C (p.Gly36Arg)	PADI2 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972891	NM_007365.3(PADI2):c.92+1006C>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation

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Items: 54