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Items: 1 to 100 of 944

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF18
(R12W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGEF18
(V179L)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARHGEF18
(V195M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Deletion
(intron variant +1 more)
not provided
GPathogenic
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
ARHGEF18-related disorder
+1 more
GBenign/Likely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinitis pigmentosa 78
+1 more
GConflicting classifications of pathogenicity
ARHGEF18
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ARHGEF18
(N3H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
(A4V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
ARHGEF18
(S6F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
(P16R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
(G17S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
(E20D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
(F27L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF18
(K30N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(E33D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(V35I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
(F36del)
Microsatellite
(inframe_deletion +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
ARHGEF18
(N39D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(E40Q)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ARHGEF18
(K45T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(S48F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(R51W)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(P52T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
(Q53P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
(Q53P)
Inversion
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(Q53H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(R56W)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(R56P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(R56Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(G57D)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(G57V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(F58L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(R59C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign/Likely benign
ARHGEF18
(A60T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(A60V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(G61R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(R64C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ARHGEF18
(P66L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(H68Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
(N73S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
(V75F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ARHGEF18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGEF18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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