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Links from MedGen

Items: 1 to 100 of 474

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(Y2420* +1 more)
Single nucleotide variant
(nonsense)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Deletion
(intron variant)
MEGF8-related Carpenter syndrome
GBenign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(G1264E +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GBenign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(R2034* +1 more)
Single nucleotide variant
(nonsense)
MEGF8-related Carpenter syndrome
GPathogenic
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(A1405V +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(G2431R +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(N251S)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(R1785H +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(Q2144H +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(W1920R +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(R1214Q +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(N1332S +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related condition
+1 more
GUncertain significance
MEGF8
(R1094W +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(P1255S +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(A1657T +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(R107Q)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(G1133D +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(P110T)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
CCDC97, CCNP
+84 more
Duplication
Maple syrup urine disease
+3 more
GUncertain significance
MEGF8
(R1126Q +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(R2514H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MEGF8
(V428M)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(T1027M +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(G2741S +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(G1229E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(G362V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MEGF8
(T2425M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
LOC130064579, MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(R1733H +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GBenign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(R1443L +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MIR8077, MEGF8
Single nucleotide variant
(non-coding transcript variant +1 more)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(S569N)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(A2282G +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(R38W)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(I229T)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(G2201S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(R714W +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(T1082fs +1 more)
Deletion
(frameshift variant)
MEGF8-related Carpenter syndrome
GPathogenic
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(G820D +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(E2002K +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(P2743S +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(E161K)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(R1126* +1 more)
Single nucleotide variant
(nonsense)
MEGF8-related Carpenter syndrome
GPathogenic
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GBenign
MEGF8
(A234T)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
+1 more
GUncertain significance
MEGF8
Single nucleotide variant
(synonymous variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GLikely benign
MEGF8
(D1795N +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(R138H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MEGF8
(R448Q)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(T435M)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
MEGF8
(P23L)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
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