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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061805, LOC130061806
+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
LOC126862671, LOC126862672
+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
LOC130062002, LOC130062003
+226 more
Copy number loss
See cases
GLikely pathogenic
ALYREF, ANAPC11
+40 more
Copy number loss
See cases
GBenign
LOC130062008, LOC130062009
+95 more
Copy number gain
See cases
GUncertain significance
ASPSCR1
(G9D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(T39M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R41Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(Q43R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(L63V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(M1L +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(M1I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(V2M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(S5F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R6W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R85H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R16L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(C109F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(T146M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ASPSCR1
(R152Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ASPSCR1
(S110L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(A189V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ASPSCR1
(A191P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(A198T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ASPSCR1
(D211N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(Q230R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R234L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1, B3GNTL1
+130 more
Copy number loss
Anomalous pulmonary venous return
GUncertain significance
ASPSCR1
(R320W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(L256Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R277K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R288C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R400C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(F406C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(R331C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(P427S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(T446R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(Q451E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(E478V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(D581N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(E519D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(A521V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(T531M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ASPSCR1
(V629M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AATK, ACTG1
+41 more
Copy number loss
not provided
GLikely pathogenic
ASPSCR1, B3GNTL1
+28 more
Duplication
not provided
GUncertain significance
TBCD, TEX19
+51 more
Deletion
See cases
GPathogenic
ASPSCR1, CCDC57
+17 more
Deletion
not provided
GPathogenic
MAFG, MCRIP1
+52 more
Duplication
not provided
GUncertain significance
AFMID, ALYREF
+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
TNFSF12, TNFSF12-TNFSF13
+1143 more
Copy number gain
See cases
GPathogenic
AIPL1, AKAP1
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
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