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Links from MedGen

Items: 1 to 100 of 212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRG1
(W143* +2 more)
Single nucleotide variant
(nonsense +2 more)
Bilateral frontoparietal polymicrogyria
GLikely pathogenic
ADGRG1
(V574fs +7 more)
Duplication
(frameshift variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(F338S +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(V350G +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(intron variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(P75L)
Single nucleotide variant
(missense variant +2 more)
Bilateral frontoparietal polymicrogyria
GPathogenic
ADGRG1
(W311* +7 more)
Single nucleotide variant
(nonsense)
Bilateral frontoparietal polymicrogyria
GPathogenic
ADGRG1
(L103P +2 more)
Single nucleotide variant
(missense variant +2 more)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(Q163fs +4 more)
Duplication
(frameshift variant)
Bilateral frontoparietal polymicrogyria
+1 more
GLikely pathogenic
ADGRG1
(C236Y +5 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(Q142* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bilateral frontoparietal polymicrogyria
GPathogenic
ADGRG1
(T208I +5 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(W478* +7 more)
Single nucleotide variant
(nonsense)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(E321K +7 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ADGRG1
(R321* +7 more)
Single nucleotide variant
(nonsense)
Bilateral frontoparietal polymicrogyria
+1 more
GPathogenic
ADGRG1
(H206Y +5 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GLikely pathogenic
ADGRG1
(P112T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ADGRG1
(A64V +1 more)
Single nucleotide variant
(missense variant +2 more)
Bilateral frontoparietal polymicrogyria
+1 more
GUncertain significance
ADGRG1
(A183T +4 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
+2 more
GUncertain significance
ADGRG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADGRG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
(V185L +4 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(P287L +4 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(D53H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ADGRG1
(V220M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRG1
(P346A +7 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, bilateral perisylvian, autosomal recessive
+1 more
GUncertain significance
ADGRG1
Single nucleotide variant
(intron variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(S467F +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GLikely pathogenic
ADGRG1
(P72fs +1 more)
Deletion
(frameshift variant +2 more)
Bilateral frontoparietal polymicrogyria
+2 more
GPathogenic/Likely pathogenic
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(S514L +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
+1 more
GConflicting classifications of pathogenicity
ADGRG1
(H427R +7 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADGRG1
(S266L +4 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(synonymous variant)
Bilateral frontoparietal polymicrogyria
+1 more
GConflicting classifications of pathogenicity
ADGRG1
(R259W +4 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
+1 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(synonymous variant)
ADGRG1-related condition
+2 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(M413L +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
(G374D +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(V358M +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADGRG1
(F522Y +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
(R232Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADGRG1
(E54K +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GLikely benign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
ADGRG1
(T335S +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(G319S +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
+1 more
GUncertain significance
ADGRG1
(S297T +7 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(R108C +2 more)
Single nucleotide variant
(missense variant +2 more)
Bilateral frontoparietal polymicrogyria
+1 more
GUncertain significance
ADGRG1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GLikely benign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
+1 more
GBenign/Likely benign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
+1 more
GBenign
ADGRG1
Single nucleotide variant
(3 prime UTR variant)
Bilateral frontoparietal polymicrogyria
+1 more
GBenign
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