"Ambry Genetics"[submitter] AND "IL12RB2"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2187685	NM_001374259.2(IL12RB2):c.94G>A (p.Asp32Asn)	IL12RB2 (D32N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1417513	NM_001374259.2(IL12RB2):c.118G>A (p.Val40Ile)	IL12RB2 (V40I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1348845	NM_001374259.2(IL12RB2):c.212A>G (p.Tyr71Cys)	IL12RB2 (Y71C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1493730	NM_001374259.2(IL12RB2):c.226A>G (p.Arg76Gly)	IL12RB2 (R76G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1958973	NM_001374259.2(IL12RB2):c.233A>G (p.Asn78Ser)	IL12RB2 (N78S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1367676	NM_001374259.2(IL12RB2):c.338T>C (p.Ile113Thr)	IL12RB2 (I113T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2527056	NM_001374259.2(IL12RB2):c.340T>G (p.Cys114Gly)	IL12RB2 (C114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1417162	NM_001374259.2(IL12RB2):c.358G>A (p.Val120Ile)	IL12RB2 (V120I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1442801	NM_001374259.2(IL12RB2):c.418A>T (p.Thr140Ser)	IL12RB2 (T140S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3109076	NM_001374259.2(IL12RB2):c.424G>C (p.Ala142Pro)	IL12RB2 (A142P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1470839	NM_001374259.2(IL12RB2):c.536A>T (p.Asp179Val)	IL12RB2 (D179V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2379768	NM_001374259.2(IL12RB2):c.686A>T (p.Asp229Val)	IL12RB2 (D229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1350895	NM_001374259.2(IL12RB2):c.767G>A (p.Arg256Gln)	IL12RB2 (R256Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2160570	NM_001374259.2(IL12RB2):c.908G>C (p.Gly303Ala)	IL12RB2 (G303A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1373147	NM_001374259.2(IL12RB2):c.919G>A (p.Asp307Asn)	IL12RB2 (D307N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2542081	NM_001374259.2(IL12RB2):c.938G>C (p.Arg313Thr)	IL12RB2 (R313T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312297	NM_001374259.2(IL12RB2):c.1031T>C (p.Phe344Ser)	IL12RB2 (F344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1462630	NM_001374259.2(IL12RB2):c.1088C>A (p.Thr363Asn)	IL12RB2 (T363N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1025077	NM_001374259.2(IL12RB2):c.1175A>T (p.Asn392Ile)	IL12RB2 (N392I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1444014	NM_001374259.2(IL12RB2):c.1189G>C (p.Val397Leu)	IL12RB2 (V397L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2603905	NM_001374259.2(IL12RB2):c.1205C>T (p.Ser402Leu)	IL12RB2 (S402L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1010681	NM_001374259.2(IL12RB2):c.1229G>A (p.Arg410His)	IL12RB2 (R410H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1928481	NM_001374259.2(IL12RB2):c.1265T>C (p.Leu422Pro)	IL12RB2 (L422P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2219743	NM_001374259.2(IL12RB2):c.1273C>T (p.Arg425Cys)	IL12RB2 (R425C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1501285	NM_001374259.2(IL12RB2):c.1391G>C (p.Gly464Ala)	IL12RB2 (G464A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1514381	NM_001374259.2(IL12RB2):c.1426A>G (p.Ser476Gly)	IL12RB2 (S476G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2529192	NM_001374259.2(IL12RB2):c.1577A>G (p.His526Arg)	IL12RB2 (H526R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264919	NM_001374259.2(IL12RB2):c.1604G>A (p.Gly535Glu)	IL12RB2 (G535E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2421523	NM_001374259.2(IL12RB2):c.1664A>G (p.His555Arg)	IL12RB2 (H555R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1395028	NM_001374259.2(IL12RB2):c.1795A>G (p.Thr599Ala)	IL12RB2 (T599A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1443651	NM_001374259.2(IL12RB2):c.1828G>A (p.Gly610Arg)	IL12RB2 (G610R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2325530	NM_001374259.2(IL12RB2):c.1865A>G (p.Asn622Ser)	IL12RB2 (N622S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1430866	NM_001374259.2(IL12RB2):c.1928C>T (p.Thr643Met)	IL12RB2 (T643M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2481299	NM_001374259.2(IL12RB2):c.1993G>A (p.Glu665Lys)	IL12RB2 (E665K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385331	NM_001374259.2(IL12RB2):c.2023G>T (p.Ala675Ser)	IL12RB2 (A589S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1429644	NM_001374259.2(IL12RB2):c.2093C>T (p.Thr698Met)	IL12RB2 (T612M +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2204159	NM_001374259.2(IL12RB2):c.2104C>T (p.Pro702Ser)	IL12RB2 (P616S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1415131	NM_001374259.2(IL12RB2):c.2251C>T (p.Pro751Ser)	IL12RB2 (P665S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 3109074	NM_001374259.2(IL12RB2):c.2294A>C (p.Asp765Ala)	IL12RB2 (D765A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1447587	NM_001374259.2(IL12RB2):c.2311G>A (p.Glu771Lys)	IL12RB2 (E685K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1939962	NM_001374259.2(IL12RB2):c.2360C>T (p.Thr787Met)	IL12RB2 (T701M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1959594	NM_001374259.2(IL12RB2):c.2368C>T (p.Pro790Ser)	IL12RB2 (P790S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2378486	NM_001374259.2(IL12RB2):c.2378A>C (p.Asp793Ala)	IL12RB2 (D793A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1933533	NM_001374259.2(IL12RB2):c.2417A>C (p.Asp806Ala)	IL12RB2 (D720A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1488667	NM_001374259.2(IL12RB2):c.2461G>A (p.Glu821Lys)	IL12RB2 (E821K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1479833	NM_001374259.2(IL12RB2):c.2507C>G (p.Ser836Cys)	IL12RB2 (S750C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance

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Items: 46