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Links from MedGen

Items: 1 to 100 of 1187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Deletion
(intron variant)
Acrocallosal syndrome
GBenign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
(Q1145*)
Single nucleotide variant
(nonsense)
Acrocallosal syndrome
GPathogenic
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(E768D)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(T208K)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Duplication
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Deletion
(frameshift variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(W443*)
Single nucleotide variant
(nonsense)
Acrocallosal syndrome
GPathogenic
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
(Q488*)
Single nucleotide variant
(nonsense)
Acrocallosal syndrome
GPathogenic
KIF7, LOC126862216
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(S684N)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(Q924E)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
(H937Q)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(T396P)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(F786L)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
(L1248F)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
(L915M)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(A757T)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(L608fs)
Deletion
(frameshift variant)
Acrocallosal syndrome
GPathogenic
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
(Q1132*)
Single nucleotide variant
(nonsense)
Acrocallosal syndrome
GPathogenic
KIF7
(E758*)
Single nucleotide variant
(nonsense)
Acrocallosal syndrome
GLikely pathogenic
KIF7
Single nucleotide variant
(splice donor variant)
Acrocallosal syndrome
GLikely pathogenic
KIF7
Duplication
Acrocallosal syndrome
GLikely pathogenic
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7, LOC126862216
(Q1127E)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7, LOC126862216
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
GLikely benign
KIF7
(Q998R)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(A1258D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF7
(E1050K)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(A239T)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(Q924*)
Single nucleotide variant
(nonsense)
Acrocallosal syndrome
GPathogenic
KIF7
(V75I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF7
(R780Q)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(R859Q)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
KIF7
(D417E)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(R840K)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(A446D)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(L615M)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
GUncertain significance
KIF7
(R1305W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
GLikely benign
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