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Items: 1 to 100 of 243

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130066574, LOC130066575
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066796, LOC130066797
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066513, LOC130066514
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653326, LOC126653327
+1160 more
Copy number gain
See cases
GUncertain significance
LOC130066833, LOC130066834
+1160 more
Copy number gain
See cases
GPathogenic
CBR1-AS1, CBR3
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066700, LOC130066701
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066665, LOC130066666
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
LOC126653316, LOC126653317
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066436, LOC130066437
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
KRTAP13-3, KRTAP13-4
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
AATBC, MIR6814
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066541, LOC130066542
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066593, LOC130066594
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066830, LOC130066831
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC129391220, LOC129391221
+1156 more
Copy number loss
See cases
GPathogenic
LOC126653329, LOC130066449
+219 more
Copy number loss
Monosomy 21
GPathogenic
LOC112694734, LOC116309120
+118 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+256 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+107 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+214 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+129 more
Copy number gain
See cases
GPathogenic
C21orf91, LOC125387325
+209 more
Copy number loss
Monosomy 21
GPathogenic
N6AMT1, NCAM2
+300 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+101 more
Copy number loss
See cases
GPathogenic
LOC129391221, LOC129391222
+121 more
Copy number loss
See cases
GPathogenic
ASMER1, HSPA13
+69 more
Copy number gain
See cases
GPathogenic
ASMER1, BTG3
+102 more
Copy number loss
See cases
GPathogenic
NRIP1
(K1155fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GUncertain significance
NRIP1
(K1155N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(T1152M)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract 3
+1 more
GLikely benign
NRIP1
(G1148E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(Y1144D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
(S1138G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRIP1
(R1135C)
Single nucleotide variant
(missense variant)
not provided
GBenign
NRIP1
(M1129V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(R1122G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NRIP1
(S1117A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(E1113A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
(K1105E)
Single nucleotide variant
(missense variant)
not provided
GBenign
NRIP1
(Q1101H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NRIP1
(S1098R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(A1096G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRIP1
(D1088N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(R1082G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NRIP1
(T1080I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(V1079F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
(P1041T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
(T989S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(Y986C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(N971S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRIP1
(V957G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
(P951L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRIP1
(R947Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRIP1
(W926R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(E920K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRIP1
(S917L)
Single nucleotide variant
(missense variant)
not provided
GBenign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRIP1
(F902L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRIP1
(L852V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(N851Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
Duplication
(inframe_insertion)
not provided
GUncertain significance
NRIP1
(S829N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(S820N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(G817V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(N816Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
(E804D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(S803L)
Single nucleotide variant
(missense variant)
not provided
GBenign
NRIP1
(E799K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRIP1
(A792V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRIP1
(A792T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NRIP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRIP1
(C760Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NRIP1
(C760S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NRIP1
(I755R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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