GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PTPN11 D61Ginsufficiently evaluated pathogenicunknown

(113 web hits)

PTPN11 Y62Dinsufficiently evaluated pathogenicunknown

(45 web hits)

PTPN11 Y63Cinsufficiently evaluated pathogenicunknown

(59 web hits)

PTPN11 A72Ginsufficiently evaluated pathogenicunknown

(18 web hits)

PTPN11 A72Sinsufficiently evaluated pathogenicunknown

(25 web hits)

PTPN11 T73Iinsufficiently evaluated pathogenicunknown

(46 web hits)

PTPN11 E76Ainsufficiently evaluated pathogenicunknown

(50 web hits)

PTPN11 E76Ginsufficiently evaluated pathogenicunknown

(17 web hits)

PTPN11 E76Kinsufficiently evaluated pathogenicunknown

(102 web hits)

PTPN11 E76Vinsufficiently evaluated pathogenicunknown

(13 web hits)

PTPN11 Q79Rinsufficiently evaluated pathogenicunknown

(77 web hits)

PTPN11 S189Ainsufficiently evaluated none, f=0.007unknown
PTPN11 Y197Xpathogenic, f=0.035recessive

This variant has been seen in a couple Illumina-based genomes but may be a sequencing error (a duplicate Complete Genomics sequencing of PGP4 has a high-confidence matching reference at this position).

This nonsense mutation is not described in literature, but other variants in this gene are associated with Noonan syndrome and LEOPARD syndrome. This is unlikely to cause Noonan syndrome, which is caused by gain-of-function. LEOPARD syndrome is caused by dominant negative variants through binding-site competition displacing wild-type function.

We believe a nonsense variant would disrupt function without blocking binding – such loss of function in mice is recessive and embryonic lethal, and so we mark this variant as recessive. The possibility that human infants survive to term with early lethality leads us to mark this as a potentially very severe effect.

PTPN11 Y279Cinsufficiently evaluated pathogenicunknown

(138 web hits)

PTPN11 F285Sinsufficiently evaluated pathogenicunknown

(8 web hits)

PTPN11 N308Dinsufficiently evaluated pathogenic, f=0.000unknown

(78 web hits)

PTPN11 N308Sinsufficiently evaluated pathogenicunknown

(22 web hits)

PTPN11 Y375Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
PTPN11 T411Minsufficiently evaluated pathogenicunknown

(17 web hits)

PTPN11 A461Tinsufficiently evaluated pathogenicunknown

(20 web hits)

PTPN11 G464Ainsufficiently evaluated pathogenicunknown

(19 web hits)

PTPN11 T468Minsufficiently evaluated pathogenicunknown

(102 web hits)

PTPN11 S502Tinsufficiently evaluated pathogenicunknown

(22 web hits)

PTPN11 Q510Rinsufficiently evaluated pathogenicunknown

(1 web hit)

PTPN11 Q510Pinsufficiently evaluated pathogenicunknown

(9 web hits)

PTPN11 R512Xinsufficiently evaluated noneunknown
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Total results: 26

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