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Links from Gene

Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP6R1
(G661D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(M255V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(D621H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G114S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G802R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(L275M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(E249K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(T247M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(D236E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(V192I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(L165F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(L106I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(N93S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(N868S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(T862M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P815S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(A806T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(V799A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P794L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R763C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P739L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(A651D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(S529F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(Q486H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(V429I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(L366V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P339T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P335S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1, TMEM86B
(G70E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
PPP6R1
(D204N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(E376K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(A797V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G69S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(E540K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(V788I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(H208R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R220H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G843E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R663W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(A585T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(N184S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(S702G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(D370G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R74H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1, TMEM86B
(V33M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R321H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(E493G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P710T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R321C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P322L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1, TMEM86B
(A85P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R616H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R223Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(A644T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(S730F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R655C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R812H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G833R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(H736R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(T374M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1, TMEM86B
(G70R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G810R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P760L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P739A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R220C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(V394G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(F541L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1, TMEM86B
(P40R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P417L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R42C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(G731R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPP6R1
(P760R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(R537W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P865L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(P776R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(A368T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP6R1
(V382M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRSK1, COX6B2
+16 more
Copy number gain
not provided
GUncertain significance
CCDC106, COX6B2
+45 more
Copy number loss
not provided
GUncertain significance
BRSK1, CCDC106
+54 more
Copy number loss
not provided
GLikely pathogenic
PPP6R1
(E277V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PPP6R1
Deletion
(intron variant)
not provided
GUncertain significance
TMC4, TMEM150B
+87 more
Copy number gain
not provided
GUncertain significance
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
PPP6R1
(R692C)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPP6R1
(V286M)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PPP6R1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF3, DNAAF3-AS1
+18 more
Duplication
Nemaline myopathy 5
+1 more
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
BRSK1, CACNG6
+68 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
BRSK1, CCDC106
+61 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
BRSK1, C19orf85
+196 more
Copy number gain
See cases
GUncertain significance
NAT14, NLRP11
+124 more
Copy number gain
See cases
GUncertain significance
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
BRSK1, C19orf85
+194 more
Copy number gain
See cases
GLikely pathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
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