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Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
ADGRB2, AHDC1
+348 more
Copy number gain
See cases
GPathogenic
LOC129929998, LOC129929999
+293 more
Copy number loss
See cases
GPathogenic
A3GALT2, ADGRB2
+214 more
Copy number loss
See cases
GPathogenic
ADGRB2, COL16A1
+78 more
Copy number gain
See cases
GUncertain significance
LOC129930033, LOC129930034
+117 more
Copy number gain
See cases
GPathogenic
COL16A1, PEF1-AS1
(I1523V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(Q1498P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(R1474L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(P1421S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(K1393N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(A1385V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(P1366T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(P1334S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(T1319I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(R1316Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(V1310L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, PEF1-AS1
(P1302L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1290L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1287L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1242L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(M1239I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(L1226F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(D1218Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G1198R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(R1191Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1178L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1170S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(D1151N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G1129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(E1125K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1098L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(T1074M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(E1070Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G1057S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1044L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P1037L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(R999H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(S996L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(A991P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(A991S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P903Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL16A1
(G898D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, LOC126805685
(P890S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, LOC126805685
(M889I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, LOC126805685
(I885V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL16A1, LOC126805685
(L884F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, LOC126805685
(P879H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1, LOC126805685
(E869Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(S841G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G836A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(K820N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G806R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P799L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(V769I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P761T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(R757Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(E753K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G751S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P741T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(R740Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(D736N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL16A1
(P716L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P716S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(A714V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL16A1
(A714G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL16A1
(Q711R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL16A1
(E707K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(L680M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(A675T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(E630K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(V594I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(A592V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL16A1
(L585P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(V563L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(C556Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(Q546H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G522R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G504C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G491C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(K476N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(K476R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P475L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(I460V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL16A1
(K404N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(K398R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL16A1
(E397K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(G393D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P388S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(L386P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(A385T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(K380R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(K377R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(P376L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
(R357W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL16A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL16A1
(R277C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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