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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGL
(R88G)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
(D52fs)
Deletion
(frameshift variant)
CHIME syndrome
GLikely pathogenic
PIGL
(F146L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PIGL
Single nucleotide variant
(splice donor variant)
CHIME syndrome
GLikely pathogenic
PIGL
Single nucleotide variant
(splice donor variant)
CHIME syndrome
GLikely pathogenic
PIGL
(L99W)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
(R242P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIGL
(Q133R)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(3 prime UTR variant)
CHIME syndrome
GBenign
PIGL
Single nucleotide variant
(3 prime UTR variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PIGL
(R242W)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
(V179L)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
(R88H)
Single nucleotide variant
(missense variant)
CHIME syndrome
+1 more
GUncertain significance
PIGL
Single nucleotide variant
(splice acceptor variant)
CHIME syndrome
+1 more
GPathogenic
PIGL
(P59H)
Single nucleotide variant
(missense variant)
CHIME syndrome
+8 more
GUncertain significance
PIGL
Single nucleotide variant
(3 prime UTR variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+1 more
GUncertain significance
PIGL
Single nucleotide variant
(3 prime UTR variant)
CHIME syndrome
+2 more
GConflicting classifications of pathogenicity
PIGL
Single nucleotide variant
(3 prime UTR variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+1 more
GUncertain significance
PIGL
Single nucleotide variant
(3 prime UTR variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+1 more
GUncertain significance
PIGL
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
PIGL
Single nucleotide variant
(3 prime UTR variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+2 more
GBenign
PIGL
(T181M)
Single nucleotide variant
(missense variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+2 more
GUncertain significance
PIGL
(G149A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIGL
Single nucleotide variant
(synonymous variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+1 more
GUncertain significance
PIGL
(E86fs)
Microsatellite
(frameshift variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+1 more
GUncertain significance
PIGL
(Q218E)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
+1 more
GConflicting classifications of pathogenicity
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
GUncertain significance
PIGL
(V179M)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(intron variant)
CHIME syndrome
+2 more
GConflicting classifications of pathogenicity
LOC130060313, PIGL
(E2K)
Single nucleotide variant
(missense variant)
CHIME syndrome
+1 more
GUncertain significance
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
+1 more
GUncertain significance
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
GUncertain significance
PIGL
(D147N)
Single nucleotide variant
(missense variant)
CHIME syndrome
+3 more
GUncertain significance
PIGL
Single nucleotide variant
(intron variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(intron variant)
CHIME syndrome
GUncertain significance
PIGL
(L142M)
Single nucleotide variant
(missense variant)
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
+3 more
GConflicting classifications of pathogenicity
PIGL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGL
(D113Y)
Single nucleotide variant
(missense variant)
CHIME syndrome
+1 more
GConflicting classifications of pathogenicity
PIGL
Single nucleotide variant
(synonymous variant)
CHIME syndrome
GUncertain significance
PIGL
(F57L)
Single nucleotide variant
(missense variant)
CHIME syndrome
GUncertain significance
PIGL
Single nucleotide variant
(splice acceptor variant)
CHIME syndrome
+1 more
GPathogenic
PIGL
(Q218*)
Single nucleotide variant
(nonsense)
CHIME syndrome
GPathogenic
PIGL
(L92fs)
Deletion
(frameshift variant)
CHIME syndrome
GPathogenic
PIGL
(L167P)
Single nucleotide variant
(missense variant)
CHIME syndrome
+3 more
GPathogenic
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