ClinVar Miner

List of variants in gene PTPN11 reported as likely benign for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_002834.4(PTPN11):c.1191G>T (p.Thr397=) rs775571445
NM_002834.4(PTPN11):c.1467C>T (p.Asp489=) rs539373294
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.537C>T (p.Tyr179=) rs141015445
NM_002834.4(PTPN11):c.643-7C>T rs1555268066
NM_002834.4(PTPN11):c.879C>T (p.His293=) rs117730996
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002834.4(PTPN11):c.996C>T (p.Gly332=) rs397507533
NM_002834.5(PTPN11):c.*2078G>A
NM_002834.5(PTPN11):c.*2629A>G
NM_002834.5(PTPN11):c.*801C>T
NM_002834.5(PTPN11):c.1266C>G (p.Thr422=)
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800
NM_002834.5(PTPN11):c.333-3T>C rs146749153
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.5(PTPN11):c.525+12G>C rs41304351
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.5(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.5(PTPN11):c.636C>G (p.Leu212=)
NM_002834.5(PTPN11):c.643-6dup rs758889732
NM_002834.5(PTPN11):c.66A>G (p.Thr22=) rs397516808
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920

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