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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
(R129*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(D339N)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Deletion
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(S256del +1 more)
Deletion
(inframe_deletion)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(T208I +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(M125I)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(R116*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(R278G +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
Deletion
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(G248V +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(S49L)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GLikely pathogenic
PHF6
(R166K +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(N316I)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(I123M)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(V126fs)
Indel
(frameshift variant)
Borjeson-Forssman-Lehmann syndrome
GLikely pathogenic
PHF6
Deletion
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(I92V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(H136R)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
+1 more
GConflicting classifications of pathogenicity
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(E338del)
Microsatellite
(inframe_deletion)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Deletion
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(Q30R)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(E341del)
Deletion
(inframe_deletion)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(E351G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PHF6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PHF6
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
PHF6
(V53L)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(C297F)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(C128Y)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Deletion
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
(A41V)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(T78M)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(S83A)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
+1 more
GUncertain significance
PHF6
Deletion
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GLikely pathogenic
PHF6
(E139*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PHF6
(T289A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(N147I +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(G29A)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(V268L +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GLikely pathogenic
PHF6
Single nucleotide variant
(splice donor variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(H104D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
(R277fs +1 more)
Deletion
(frameshift variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(G275R +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
GLikely benign
PHF6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PHF6
(S22*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GLikely pathogenic
PHF6
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
PHF6
(R274* +1 more)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
+3 more
GPathogenic
PHF6
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PHF6
(P11fs)
Duplication
(frameshift variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(R225* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
PHF6
(T255del +1 more)
Microsatellite
(inframe_deletion)
Borjeson-Forssman-Lehmann syndrome
GLikely pathogenic
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
+1 more
GBenign/Likely benign
PHF6
(K38fs)
Deletion
(frameshift variant)
Borjeson-Forssman-Lehmann syndrome
GUncertain significance
PHF6
(C85*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(A140T)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PHF6
(I230V +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
+1 more
GConflicting classifications of pathogenicity
PHF6
(C305F)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(R163C +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
+1 more
GConflicting classifications of pathogenicity
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
+2 more
GConflicting classifications of pathogenicity
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
+2 more
GConflicting classifications of pathogenicity
PHF6
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PHF6
(G10fs)
Duplication
(frameshift variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(K8*)
Single nucleotide variant
(nonsense)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(R257G +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
PHF6
(H229R +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(C45Y)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(K234E +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(C99F)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
GPathogenic
PHF6
(R342*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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