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Links from Gene

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHC2, PHC2-AS1
(P221S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(A432V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(Q194H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PHC2
(G231S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(A165T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2, PHC2-AS1
(P468H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(G229S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PHC2
(R334W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(G42R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(M275T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(A277T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(P274L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(G22R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(T174M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(L149H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(N117S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(D829E +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(A302T +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(S828A +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(V779M +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(M746V +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(A72T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(P707L +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(R458G +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(R697C +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(I525V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2, PHC2-AS1
(R486W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
PHC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PHC2, PHC2-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PHC2
(P626S +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(N126Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(T56N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(T267M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(L173F +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(A144T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(T484M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(I519V +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(G197A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(P345L +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(V285I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(A101T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(R526Q +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(I496T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(T220M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(T257S +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(R152Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(T226M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2, PHC2-AS1
(P400L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(Q154K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(R307Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(T218N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(A274V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(L93F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(N502D +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(P275S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(R215Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(L616P +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(L281V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(R228Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(P6L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(S137L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2
(R39C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(Q428K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(R498H +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(L532F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC2, PHC2-AS1
(A276S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2, PHC2-AS1
(A467D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC2
(H9R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
TMEM54, RBBP4
+51 more
Copy number gain
not provided
GLikely pathogenic
PHC2
(A13T +6 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PHC2, PHC2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHC2, PHC2-AS1
(P514L +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PHC2, PHC2-AS1
(R367Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PHC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
YARS1, ZBTB8A
+41 more
Copy number loss
not provided
GPathogenic
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
CSMD2, CSMD2-AS1
+10 more
Copy number gain
See cases
GUncertain significance
A3GALT2, ADGRB2
+214 more
Copy number loss
See cases
GPathogenic
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