ClinVar for Gene (Select 5781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344340	NM_002834.5(PTPN11):c.646C>T (p.Leu216Phe)	PTPN11 (L215F +1 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder	GUncertain significance
Select item 3342591	NM_002834.5(PTPN11):c.1393C>T (p.Arg465Trp)	PTPN11 (R464W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339786	NM_002834.5(PTPN11):c.1447+7C>T	PTPN11	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338722	NM_002834.5(PTPN11):c.293T>C (p.Leu98Pro)	PTPN11 (L97P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337999	NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)	PTPN11 (Y61H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 3337499	NM_002834.5(PTPN11):c.886G>C (p.Asp296His)	PTPN11 (D295H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337341	NM_002834.5(PTPN11):c.534_555dup (p.Arg186fs)	PTPN11 (R185fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3311382	NM_002834.5(PTPN11):c.1146C>T (p.Val382=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3311381	NM_002834.5(PTPN11):c.754G>A (p.Glu252Lys)	PTPN11 (E252K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3311380	NM_002834.5(PTPN11):c.1690A>T (p.Thr564Ser)	PTPN11 (T564S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3311379	NM_002834.5(PTPN11):c.555A>C (p.Glu185Asp)	PTPN11 (E184D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3244346	NC_000012.11:g.(?_112910728)_(113008334_?)dup	PTPN11	Duplication	RASopathy	GUncertain significance
Select item 3244345	NC_000012.11:g.(?_112856916)_(112856949_?)dup	PTPN11	Duplication	RASopathy	GUncertain significance
Select item 3244344	NC_000012.11:g.(?_112856916)_(112856949_?)del	PTPN11	Deletion	RASopathy	GPathogenic
Select item 3242355	NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)	PTPN11 (I473V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely benign
Select item 3222835	NM_002834.5(PTPN11):c.772G>C (p.Glu258Gln)	PTPN11 (E257Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222834	NM_002834.5(PTPN11):c.333-3del	PTPN11	Deletion (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222833	NM_002834.5(PTPN11):c.1713-6_1731delinsG	PTPN11	Indel (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222832	NM_002834.5(PTPN11):c.1615G>T (p.Gly539Trp)	PTPN11 (G538W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222831	NM_002834.5(PTPN11):c.1213A>G (p.Lys405Glu)	PTPN11 (K404E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222830	NM_002834.5(PTPN11):c.1140T>C (p.Tyr380=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3220858	NM_002834.5(PTPN11):c.763C>T (p.Gln255Ter)	PTPN11 (Q254* +1 more)	Single nucleotide variant (nonsense)	Metachondromatosis	GLikely pathogenic
Select item 3149062	NM_002834.5(PTPN11):c.848T>A (p.Leu283Gln)	PTPN11 (L283Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3149061	NM_002834.5(PTPN11):c.1045A>G (p.Asn349Asp)	PTPN11 (N348D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063683	NM_002834.5(PTPN11):c.318T>A (p.Asp106Glu)	PTPN11 (D105E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061835	NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)	PTPN11 (I521T +2 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 3036670	NM_002834.5(PTPN11):c.906A>G (p.Ser302=)	PTPN11	Single nucleotide variant (synonymous variant)	PTPN11-related disorder	GLikely benign
Select item 3032947	NM_002834.5(PTPN11):c.15-3A>C	PTPN11	Single nucleotide variant (intron variant)	PTPN11-related disorder	GLikely benign
Select item 3024292	NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)	PTPN11 (Y262N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GLikely pathogenic
Select item 3023767	NM_002834.5(PTPN11):c.756+16A>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3020428	NM_002834.5(PTPN11):c.756+6T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3018123	NM_002834.5(PTPN11):c.1448-17T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017352	NM_002834.5(PTPN11):c.332+3C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3016641	NM_002834.5(PTPN11):c.1225-7A>C	PTPN11	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3011698	NM_002834.5(PTPN11):c.1448-13G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3010796	NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)	PTPN11 (I467V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2990668	NM_002834.5(PTPN11):c.854-13_854-12del	PTPN11	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2990032	NM_002834.5(PTPN11):c.15-15G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2978198	NM_002834.5(PTPN11):c.1348A>T (p.Met450Leu)	PTPN11 (M450L +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2956855	NM_002834.5(PTPN11):c.948C>G (p.Thr316=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2955695	NM_002834.5(PTPN11):c.1680C>T (p.Leu560=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2921007	NM_002834.5(PTPN11):c.173_175del (p.Asn58del)	PTPN11 (N57del +1 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2913788	NM_002834.5(PTPN11):c.934-12del	PTPN11	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2911233	NM_002834.5(PTPN11):c.1224+7A>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2909304	NM_002834.5(PTPN11):c.1242G>A (p.Thr414=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2905852	NM_002834.5(PTPN11):c.1594G>C (p.Glu532Gln)	PTPN11 (E532Q +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2904678	NM_002834.5(PTPN11):c.1599+17T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2903027	NM_002834.5(PTPN11):c.1496C>G (p.Ser499Cys)	PTPN11 (S499C +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2902551	NM_002834.5(PTPN11):c.880G>T (p.Asp294Tyr)	PTPN11 (D293Y +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2899346	NM_002834.5(PTPN11):c.60G>A (p.Leu20=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2892113	NM_002834.5(PTPN11):c.853+12T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2890233	NM_002834.5(PTPN11):c.525+6T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2869426	NM_002834.5(PTPN11):c.1225-9C>G	PTPN11 (L410V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely benign
Select item 2865533	NM_002834.5(PTPN11):c.1708G>T (p.Ala570Ser)	PTPN11 (A570S +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2863316	NM_002834.5(PTPN11):c.1599+9C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2862713	NM_002834.5(PTPN11):c.14+8G>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2861237	NM_002834.5(PTPN11):c.42G>A (p.Val14=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2857669	NM_002834.5(PTPN11):c.645C>A (p.Pro215=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2857560	NM_002834.5(PTPN11):c.853+3A>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2855797	NM_002834.5(PTPN11):c.1479C>T (p.Thr493=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2855032	NM_002834.5(PTPN11):c.628C>A (p.Leu210Ile)	PTPN11 (L210I +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2850662	NM_002834.5(PTPN11):c.1380-11T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2848600	NM_002834.5(PTPN11):c.526-14G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2845856	NM_002834.5(PTPN11):c.1604G>A (p.Ser535Asn)	PTPN11 (S534N +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2844627	NM_002834.5(PTPN11):c.1172G>A (p.Ser391Asn)	PTPN11 (S390N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2840589	NM_002834.5(PTPN11):c.1657A>T (p.Thr553Ser)	PTPN11 (T553S +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2834051	NM_002834.5(PTPN11):c.1712A>C (p.Glu571Ala)	PTPN11 (E571A +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2832265	NM_002834.5(PTPN11):c.1712+15A>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2828652	NM_002834.5(PTPN11):c.1294C>G (p.Pro432Ala)	PTPN11 (P432A +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2828505	NM_002834.5(PTPN11):c.228G>A (p.Glu76=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2815842	NM_002834.5(PTPN11):c.825C>T (p.Asn275=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2815206	NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)	PTPN11 (L19V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2814413	NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)	PTPN11 (Y62I +1 more)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 2813814	NM_002834.5(PTPN11):c.1515C>T (p.Val505=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2810001	NM_002834.5(PTPN11):c.611A>T (p.Glu204Val)	PTPN11 (E203V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2808637	NM_002834.5(PTPN11):c.14+9C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2800743	NM_002834.5(PTPN11):c.15-15_15-12del	PTPN11	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2797878	NM_002834.5(PTPN11):c.956A>G (p.Asn319Ser)	PTPN11 (N318S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2797606	NM_002834.5(PTPN11):c.933+7T>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2795502	NM_002834.5(PTPN11):c.1453G>T (p.Asp485Tyr)	PTPN11 (D485Y +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2794886	NM_002834.5(PTPN11):c.853+7A>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2794174	NM_002834.5(PTPN11):c.1121A>G (p.Glu374Gly)	PTPN11 (E373G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2793357	NM_002834.5(PTPN11):c.1533C>T (p.Tyr511=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2790787	NM_002834.5(PTPN11):c.1338G>A (p.Gln446=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2788040	NM_002834.5(PTPN11):c.756+16A>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2787225	NM_002834.5(PTPN11):c.1447+20del	PTPN11	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2785856	NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)	PTPN11 (W6C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2785553	NM_002834.5(PTPN11):c.574G>A (p.Asp192Asn)	PTPN11 (D192N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2785503	NM_002834.5(PTPN11):c.1461T>C (p.Asp487=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2784912	NM_002834.5(PTPN11):c.636C>A (p.Leu212=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2783072	NM_002834.5(PTPN11):c.776G>A (p.Cys259Tyr)	PTPN11 (C258Y +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2781416	NM_002834.5(PTPN11):c.1290C>T (p.Ser430=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2776201	NM_002834.5(PTPN11):c.861T>C (p.His287=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2772876	NM_002834.5(PTPN11):c.14+12C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2769483	NM_002834.5(PTPN11):c.473G>T (p.Gly158Val)	PTPN11 (G158V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2766479	NM_002834.5(PTPN11):c.1447+6T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2764446	NM_002834.5(PTPN11):c.1086A>G (p.Arg362=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2763458	NM_002834.5(PTPN11):c.1320G>A (p.Glu440=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2762633	NM_002834.5(PTPN11):c.1326G>A (p.Val442=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GUncertain significance
Select item 2762514	NM_002834.5(PTPN11):c.756+19G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign

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