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Links from MedGen

Items: 1 to 100 of 1736

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHMT1
(Q717* +2 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
GLikely pathogenic
EHMT1
Deletion
(intron variant)
Kleefstra syndrome 1
GPathogenic
EHMT1
(V169fs +1 more)
Duplication
(frameshift variant)
Kleefstra syndrome 1
GPathogenic
EHMT1
Single nucleotide variant
(splice acceptor variant)
Kleefstra syndrome 1
GLikely pathogenic
EHMT1
Single nucleotide variant
(splice acceptor variant +1 more)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(Q983* +1 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
GPathogenic
EHMT1
Single nucleotide variant
(splice donor variant)
Kleefstra syndrome 1
GLikely pathogenic
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(K130T +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(V949I +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1, LOC130003148
(L483V +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
+1 more
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(P1015S +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(S934L +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GBenign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1, LOC130003135
Deletion
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(A337T +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(V633M +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(A338V +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1, LOC130003135
Single nucleotide variant
(synonymous variant +1 more)
Kleefstra syndrome 1
GLikely benign
EHMT1
(R1250H +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(Q573R +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GBenign
EHMT1
(A77V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(A32T +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant +1 more)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(L1130V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(P130L +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
+1 more
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(A927T +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(V855I +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(S33G +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GBenign
EHMT1, LOC130003135
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant +1 more)
Kleefstra syndrome 1
GLikely benign
EHMT1
(N80S +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GBenign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(A617T +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(S387L +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(M176V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(G56V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1, LOC130003148
(R499Q +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(T664M +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(S427C +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(P421S +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(Q302E +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(T770M +2 more)
Indel
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(K399E +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1, LOC130003135
Single nucleotide variant
(synonymous variant +1 more)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(M1073I +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(K330R +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(A43T +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1, LOC130003148
(L507F +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(D1145G +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(T186A +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(L1298fs +1 more)
Duplication
(frameshift variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(E102V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Deletion
(intron variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(H77R +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(L932P +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GBenign
EHMT1
(E324D +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GBenign
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
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