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Links from MedGen

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM5C
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(Y157N +1 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
Gnot provided
KDM5C
(Y373D +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(W1141* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(Q835* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C, LOC130068308
(A32S)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KDM5C
(S472* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(K356del +2 more)
Deletion
(inframe_deletion +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GUncertain significance
KDM5C
(P1254R +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(Q903L +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(S1445N +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(P201S +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(L1152R +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(P931fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(P1254T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
KDM5C
(T239I +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(F63L)
Single nucleotide variant
(missense variant +2 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(P873fs +2 more)
Duplication
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(C671* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(R862G +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(D335N +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(E416fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(Q1003* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(C758Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(V120A +1 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(R683W +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GLikely pathogenic
KDM5C
(D450fs +2 more)
Duplication
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(G808D +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(P153L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KDM5C
Single nucleotide variant
(splice acceptor variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(R265* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GPathogenic
KDM5C
(G266R +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(P494A +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(S5fs)
Duplication
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(E1023D +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GConflicting classifications of pathogenicity
KDM5C
(R1247W +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KDM5C
(D554G +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(Q970* +2 more)
Single nucleotide variant
(nonsense +1 more)
Spastic paraplegia
+1 more
GPathogenic
KDM5C
(S455F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
KDM5C
Deletion
(splice acceptor variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(R108W)
Single nucleotide variant
(missense variant +2 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(G462A +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(W467C +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(P387fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(Q70*)
Single nucleotide variant
(nonsense +2 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(V548F +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
Deletion
(inframe_deletion +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GUncertain significance
KDM5C
(A825T +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(Q639* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(A889T +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GUncertain significance
KDM5C, LOC130068308
(P27L)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(G541V +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(K222E +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(P1186L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KDM5C
(P1505L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KDM5C
(R1015fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(L297Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(R856Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(A90V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
KDM5C
(Q1071* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(R159C +1 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(E1232* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(P1428L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
KDM5C
(G385S +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GUncertain significance
KDM5C
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(S1172C +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(Y85*)
Single nucleotide variant
(nonsense +2 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
Single nucleotide variant
(non-coding transcript variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GBenign/Likely benign
KDM5C
(V516F +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(W555C +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(L130fs +2 more)
Duplication
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
Single nucleotide variant
(3 prime UTR variant +2 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(T203fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic/Likely pathogenic
KDM5C
(G1191fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C, LOC130068308
(I34fs)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(R198Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
(R705H +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GUncertain significance
KDM5C
(R599C +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GLikely pathogenic
KDM5C
(V1081M +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KDM5C
(Q199* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+1 more
GPathogenic
KDM5C
(Y157C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KDM5C
(N1522K +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+3 more
GUncertain significance
KDM5C
(R828* +2 more)
Single nucleotide variant
(nonsense +1 more)
Developmental disorder
+3 more
GPathogenic
KDM5C
(L1200fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(L256fs +2 more)
Microsatellite
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(R1445H +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KDM5C
Duplication
(splice donor variant)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(P480L +2 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+2 more
GPathogenic
KDM5C
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
+4 more
GBenign/Likely benign
KDM5C
(W52C)
Single nucleotide variant
(missense variant +2 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(Q1040* +2 more)
Single nucleotide variant
(nonsense +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
DDX3X
(R326H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
KDM5C
(R1435H +3 more)
Single nucleotide variant
(missense variant +2 more)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KDM5C
(P538L +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
KDM5C
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
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