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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GNT, AADAC
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937944, LOC129937945
+630 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
GPR171, GPR87
+11 more
Copy number gain
See cases
GUncertain significance
MED12L, P2RY12
(E330G)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MED12L, P2RY12
(E330K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(K328E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
P2RY12, MED12L
(S323F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
P2RY12, MED12L
(N317S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(R306S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(Y298C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
P2RY12, MED12L
(T283I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(V279A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MED12L, P2RY12
(C270R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(D269N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(R265P)
Single nucleotide variant
(missense variant +1 more)
Platelet-type bleeding disorder 8
+1 more
GPathogenic/Likely pathogenic
MED12L, P2RY12
(R265W)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
MED12L, P2RY12
(P258T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
MED12L, P2RY12
(R256Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(V244I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(I240fs)
Deletion
(frameshift variant +1 more)
Platelet-type bleeding disorder 8
GPathogenic
MED12L, P2RY12
(G225C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(T223M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
P2RY12, MED12L
(R222fs)
Duplication
(frameshift variant +1 more)
Platelet-type bleeding disorder 8
GLikely pathogenic
MED12L, P2RY12
(S219P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(K214E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(F202L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(I200M)
Single nucleotide variant
(missense variant +1 more)
Impaired ADP-induced platelet aggregation
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MED12L, P2RY12
(C175Y)
Single nucleotide variant
(missense variant +1 more)
Impaired ADP-induced platelet aggregation
GUncertain significance
MED12L, P2RY12
(K174E)
Single nucleotide variant
(missense variant +1 more)
Abnormal platelet function
GLikely pathogenic
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(L157fs)
Deletion
(frameshift variant +1 more)
Platelet-type bleeding disorder 8
GLikely pathogenic
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
P2RY12, MED12L
(A150P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(T127I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MED12L, P2RY12
(R122H)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
MED12L, P2RY12
(R122C)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
MED12L, P2RY12
(D121N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(I118L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(F95S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(K86R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MED12L, P2RY12
(R54Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(R54W)
Single nucleotide variant
(missense variant +1 more)
Platelet-type bleeding disorder 8
GUncertain significance
MED12L, P2RY12
(M47I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(L40F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
P2RY12, MED12L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(P29A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(D20fs)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(L16V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(A10V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MED12L, P2RY12
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GUncertain significance
P2RY12, MED12L
(E771D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(A740T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(S759I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MED12L, P2RY12
(T796R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(K806E +1 more)
Single nucleotide variant
(missense variant +1 more)
MED12L-related neurodevelopmental disorder
GUncertain significance
MED12L, P2RY12
(S829P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(intron variant)
Nizon-Isidor syndrome
GBenign
P2RY12, MED12L
(S818T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
P2RY12, MED12L
(I868V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
P2RY12, MED12L
(L836F +1 more)
Single nucleotide variant
(missense variant +1 more)
Nizon-Isidor syndrome
GUncertain significance
P2RY12, MED12L
(G845R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MED12L, P2RY12
(I886M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(intron variant)
not provided
GBenign
MED12L, P2RY12
(S868F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(C882fs +1 more)
Microsatellite
(frameshift variant +1 more)
Nizon-Isidor syndrome
GLikely pathogenic
MED12L, P2RY12
(V884M +1 more)
Single nucleotide variant
(missense variant +1 more)
MED12L-related condition
GUncertain significance
MED12L, P2RY12
(L887F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
MED12L, P2RY12
(P918S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(S923F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(V937M +1 more)
Single nucleotide variant
(missense variant +1 more)
MED12L-related condition
GUncertain significance
P2RY12, MED12L
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GLikely benign
P2RY12, MED12L
(S955P +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GUncertain significance
MED12L, P2RY12
(W1009L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(W1009C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(M1015V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
Single nucleotide variant
(synonymous variant +1 more)
Nizon-Isidor syndrome
GBenign
MED12L, P2RY12
(N1041S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
MED12L, P2RY12
(H1022Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(D1024E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
P2RY12, MED12L
(T1043S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(T1043S +1 more)
Single nucleotide variant
(missense variant +1 more)
MED12L-related condition
GUncertain significance
MED12L, P2RY12
(L1056V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(V1098L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MED12L, P2RY12
(I1088V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MED12L, P2RY12
(I1090V +1 more)
Single nucleotide variant
(missense variant +1 more)
MED12L-related condition
GUncertain significance
MED12L, P2RY12
(R1094* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
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