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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HIVEP2
(D2421G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P2403L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(H2390R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(L2304Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P2302A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HIVEP2
(H2288P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(G2233E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(I2226L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R2223*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HIVEP2
(F2211L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P2182A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R2176del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
HIVEP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HIVEP2
(S2118F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S2106L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S2101T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(M2022I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P1986fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
HIVEP2
(R1979*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
HIVEP2
(S1967fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HIVEP2
(P1940fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HIVEP2
(D1920G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(D1913E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
Deletion
not provided
GUncertain significance
HIVEP2
(D1904V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(E1901K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(A1882T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(E1872fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HIVEP2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HIVEP2
(V1828I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R1819P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R1807H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(G1780V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(H1760R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P1732S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HIVEP2
(T1687S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(G1684E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(Q1637H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(T1623A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S1622L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(D1621H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(L1594P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S1581N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S1545F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(E1503A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
Deletion
not provided
GUncertain significance
HIVEP2
(L1487F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(M1465L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(M1441V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
HIVEP2
(G1400D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(V1379A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HIVEP2
(Q1355R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(V1336L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(V1336I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(T1306I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S1254R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(Q1248*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HIVEP2
(F1247V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(Y1242C)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
HIVEP2
(Y1177fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HIVEP2
(Q1155E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(H1152Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(D1100E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(A1064fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
HIVEP2
(P1044S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(H1039R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R1029H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R1029G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(A1011S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(K996E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HIVEP2
(T988I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 43
+1 more
GUncertain significance
HIVEP2
(S974P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(Q969*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HIVEP2
(R965P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(F956L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(S951P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(R943*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
HIVEP2
(E895K)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HIVEP2
(P865L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P848H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(A830S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(E821V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(P794L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(F758Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(D632N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HIVEP2
(E625A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(V606M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HIVEP2
(L540R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HIVEP2
(V462F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HIVEP2
Deletion
(inframe_deletion)
not provided
GUncertain significance
HIVEP2
(Q409R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HIVEP2
(D397Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HIVEP2
(P390L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(L388del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
HIVEP2
(A245S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HIVEP2
(Y189H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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