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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GEMIN4
(L669fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(L645V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(C1011Y +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(R91Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(R257K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(R257G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(S811N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GEMIN4
(P105L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GPathogenic
GEMIN4
(A186V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GEMIN4, LOC130059866
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GBenign
GEMIN4
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
+1 more
GBenign
GEMIN4
(Q450E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GBenign
GEMIN4
(A579G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GEMIN4
(R684Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GEMIN4
(I739T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
+1 more
GBenign
GEMIN4
(D929N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GEMIN4
(R1033C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GEMIN4
(P596L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(Q225*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(S755F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
+1 more
GUncertain significance
GEMIN4
(N527S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(Q1032*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GUncertain significance
GEMIN4
(W818R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
GLikely pathogenic
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