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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+387 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+385 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+262 more
Copy number gain
See cases
GPathogenic
ACTG1, ALYREF
+226 more
Copy number loss
See cases
GLikely pathogenic
ALYREF, ANAPC11
+40 more
Copy number loss
See cases
GBenign
ARHGDIA
(R211Q)
Single nucleotide variant
(3 prime UTR variant +3 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA
(A153fs +1 more)
Indel
(frameshift variant +3 more)
not provided
GUncertain significance
ARHGDIA
(G249E)
Single nucleotide variant
(3 prime UTR variant +3 more)
Nephrotic syndrome, type 8
+2 more
GConflicting classifications of pathogenicity
ARHGDIA
Single nucleotide variant
(3 prime UTR variant +3 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA
Single nucleotide variant
(3 prime UTR variant +3 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA
(L224fs)
Duplication
(3 prime UTR variant +3 more)
Nephrotic syndrome, type 8
GLikely pathogenic
ARHGDIA
(L224P)
Single nucleotide variant
(3 prime UTR variant +3 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA
(Q190fs)
Duplication
(3 prime UTR variant +3 more)
Finnish congenital nephrotic syndrome
GUncertain significance
ARHGDIA
(T182A)
Single nucleotide variant
(3 prime UTR variant +3 more)
Nephrotic syndrome, type 8
GUncertain significance
ARHGDIA
(R180W)
Single nucleotide variant
(3 prime UTR variant +3 more)
ARHGDIA-related disorder
GUncertain significance
ARHGDIA
(T232N +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA
(D230E +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA
(D185del +1 more)
Microsatellite
(inframe_deletion +2 more)
Nephrotic syndrome, type 8
GPathogenic
ARHGDIA
(T147M)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GBenign
ARHGDIA
(T146M)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GBenign
ARHGDIA
(G173V +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephrotic syndrome, type 8
GPathogenic
ARHGDIA
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ARHGDIA
Single nucleotide variant
(synonymous variant +2 more)
ARHGDIA-related disorder
+1 more
GBenign/Likely benign
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGDIA
(Q175K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGDIA
(G125R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGDIA
(V123A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA
(R120* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome, type 8
GPathogenic
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGDIA
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGDIA
(R111G +1 more)
Single nucleotide variant
(missense variant)
ARHGDIA-related disorder
GUncertain significance
ARHGDIA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGDIA, LOC130061973
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
ARHGDIA, LOC130061973
(E130D)
Single nucleotide variant
(intron variant +1 more)
Nephrotic syndrome, type 8
+1 more
GConflicting classifications of pathogenicity
ARHGDIA, LOC130061973
Duplication
(inframe insertion +1 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA, LOC130061973
Single nucleotide variant
(synonymous variant +1 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA, LOC130061973
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign/Likely benign
ARHGDIA, LOC130061973
(P95L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGDIA, LOC130061973
(P95fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
ARHGDIA, LOC130061973
(G84C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGDIA, LOC130061973
(A82V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGDIA, LOC130061973
(S80T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA, LOC130061973
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGDIA, LOC130061973
(N69S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA, LOC130061973
(P68S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA, LOC130061974
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGDIA, LOC130061974
(S62F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGDIA, LOC130061974
(A60G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA, LOC130061974
(Y51H)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 8
GUncertain significance
ARHGDIA, LOC130061974
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGDIA, LOC130061974
(K43R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA, LOC130061974
Single nucleotide variant
(synonymous variant +1 more)
ARHGDIA-related disorder
GLikely benign
ARHGDIA, LOC130061974
(Q36R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ARHGDIA, LOC130061974
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ARHGDIA, LOC130061974
(S24L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AATK, ACTG1
+41 more
Copy number loss
not provided
GLikely pathogenic
TBCD, TEX19
+51 more
Deletion
See cases
GPathogenic
ALYREF, ANAPC11
+17 more
Duplication
not provided
GUncertain significance
MAFG, MCRIP1
+52 more
Duplication
not provided
GUncertain significance
CANT1, CARD14
+146 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
AATK, ACTG1
+65 more
Copy number gain
not provided
GPathogenic
ALYREF, ANAPC11
+26 more
Copy number gain
not provided
GUncertain significance
AATK, ACTG1
+88 more
Copy number gain
not provided
GLikely pathogenic
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+202 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+128 more
Copy number gain
See cases
GPathogenic
EFTUD2, EIF1
+1143 more
Copy number gain
See cases
GPathogenic
KRT15, KRT16
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
ARHGDIA, P4HB
Copy number gain
See cases
GBenign
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