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Links from MedGen

Items: 1 to 100 of 709

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI3
(S834F)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+3 more
GUncertain significance
GLI3
(E119A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
GUncertain significance
GLI3
(Q717fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
+3 more
GLikely pathogenic
GLI3
(G961fs)
Duplication
(frameshift variant)
Polysyndactyly 4
+3 more
GLikely pathogenic
GLI3
(S445fs)
Duplication
(frameshift variant)
Polysyndactyly 4
+3 more
GLikely pathogenic
GLI3
(D519fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
(E1361*)
Single nucleotide variant
(nonsense)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
(P178T)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
(D1561E)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
(R875fs)
Deletion
(frameshift variant)
Greig cephalopolysyndactyly syndrome
+1 more
GPathogenic
GLI3
(T1037K)
Single nucleotide variant
(missense variant)
Greig cephalopolysyndactyly syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Greig cephalopolysyndactyly syndrome
+1 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(E187fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
(E456K)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(Y1439fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(R904H)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G1441fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
Duplication
(inframe_insertion)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(S907C)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(Q451H)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(P1340fs)
Insertion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(D913N)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(L443V)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G450W)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(Y987*)
Single nucleotide variant
(nonsense)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
(Q1148*)
Single nucleotide variant
(nonsense)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
(D962H)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G1273V)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(G1341fs)
Deletion
(frameshift variant)
Pallister-Hall syndrome
+1 more
GPathogenic
GLI3
(S755F)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(Q4H)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(H6P)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G1125E)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(T682A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(P1298A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(A1522P)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(R180W)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(Y1444C)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(A1034T)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(P998R)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(T9M)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(S1207K)
Indel
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(R905P)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(S1102Y)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(V778I)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(R1394L)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(P1398L)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(P1183L)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(Q472R)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G1212D)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(T107A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(C870G)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(K88R)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G1054S)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(Q1343H)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(P650L)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(intron variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(M111L)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(G1321W)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(Q1470R)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(S715N)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(P155S)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(R145C)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(R449W)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(G486A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(R989W)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(synonymous variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(Q1428P)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(M948I)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(N1233S)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(T459A)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(S163P)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GLikely benign
GLI3
(P1123L)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
GLI3
(S1137R)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GBenign
GLI3
(T943M)
Single nucleotide variant
(missense variant)
Pallister-Hall syndrome
+1 more
GUncertain significance
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