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Items: 1 to 100 of 382

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
LOC130058096, LOC130058097
+59 more
Copy number loss
See cases
GUncertain significance
MPG, NPRL3
+26 more
Copy number gain
See cases
GUncertain significance
OR1F1, OR2C1
+916 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+119 more
Copy number loss
See cases
GPathogenic
LOC130058195, LOC130058196
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
RMI2, RNF151
+842 more
Copy number gain
See cases
GPathogenic
AXIN1, BAIAP3
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
LOC130058122, LOC130058123
+164 more
Copy number loss
See cases
GPathogenic
LOC130058091, HBA-LCR
+8 more
Deletion
alpha Thalassemia
GPathogenic
HBA-LCR, HBA1
+8 more
Deletion
alpha Thalassemia
GPathogenic
HBM, HBZ
+4 more
Deletion
alpha Thalassemia
GPathogenic
HBA1
Single nucleotide variant
HEMOGLOBIN LAMEN ISLAND
Gother
HBA1, HBA2
+3 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+6 more
Copy number loss
See cases
GLikely benign
HBA1, HBA2
+3 more
Copy number loss
See cases
GUncertain significance
HBA1, HBA2
+6 more
Copy number loss
See cases
GPathogenic
HBA1, HBA2
+6 more
Copy number loss
See cases
GPathogenic
HBA1, HBA2
+6 more
Copy number loss
See cases
GPathogenic
HBA1, HBA2
+4 more
Copy number loss
See cases
GPathogenic
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA2, HBQ1
+5 more
Deletion
alpha Thalassemia
GPathogenic
LOC130058090, LOC130058091
+5 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+5 more
Deletion
alpha Thalassemia
GPathogenic
LOC106804613, HBA1
+2 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+2 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+2 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+2 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+2 more
Deletion
not provided
GPathogenic
HBA1, HBA2
+1 more
(H21Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN LE LAMENTIN
Gother
HBA1, HBA2
+1 more
(K41M)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 7
+1 more
GPathogenic; other
HBA1, HBA2
+1 more
(F44L)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HIROSAKI
Gother
HBA1, HBA2
+1 more
(S50R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, HBA2
+1 more
(H73Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN GOUDA
Gother
LOC106804612, HBA1
+1 more
(N98K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, HBA2
+1 more
(H123Q)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 7
+4 more
GUncertain significance
HBA2, HBA1
+1 more
(L137P)
Single nucleotide variant
(missense variant)
Splenomegaly
+1 more
GPathogenic
HBA1, HBA2
+1 more
Single nucleotide variant
(stop lost)
not provided
+1 more
GPathogenic
HBA1, LOC106804613
Deletion
not provided
GPathogenic
HBA1, LOC106804613
Deletion
alpha Thalassemia
GBenign
HBA1, LOC106804613
Single nucleotide variant
alpha Thalassemia
GUncertain significance
HBA1, LOC106804613
Single nucleotide variant
not provided
GBenign
HBA1, LOC106804613
Single nucleotide variant
not specified
GUncertain significance
HBA1, LOC106804613
Single nucleotide variant
not provided
GUncertain significance
HBA1, LOC106804613
Single nucleotide variant
not provided
GConflicting classifications of pathogenicity
HBA1, LOC106804613
Single nucleotide variant
not provided
GBenign/Likely benign
HBA1, LOC106804613
Single nucleotide variant
not provided
GLikely benign
LOC106804613, HBA1
Single nucleotide variant
(5 prime UTR variant)
alpha Thalassemia
GUncertain significance
HBA1, LOC106804613
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
HBA1, LOC106804613
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
HBA1, LOC106804613
Deletion
(5 prime UTR variant)
not specified
GUncertain significance
HBA1, LOC106804613
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
HBA1, LOC106804613
Deletion
not provided
GPathogenic
HBA1, LOC106804613
(M1K)
Single nucleotide variant
(missense variant +1 more)
alpha Thalassemia
GLikely pathogenic
HBA1, LOC106804613
(M1fs)
Deletion
(frameshift variant +1 more)
alpha Thalassemia
GLikely pathogenic
HBA1, LOC106804613
(M1R)
Single nucleotide variant
(missense variant +1 more)
alpha Thalassemia
GPathogenic
HBA1, LOC106804613
(V2E)
Single nucleotide variant
(missense variant)
HEMOGLOBIN THIONVILLE
Gother
HBA1, LOC106804613
(L3R)
Single nucleotide variant
(missense variant)
HEMOGLOBIN CHONGQING
Gother
HBA1, LOC106804613
(S4F)
Single nucleotide variant
(missense variant)
HEMOGLOBIN DOUALA
Gother
HBA1, LOC106804613
(A6P)
Single nucleotide variant
(missense variant)
HEMOGLOBIN KARACHI
Gother
HBA1, LOC106804613
(A6D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC106804613, HBA1
(D7del)
Deletion
(inframe_deletion)
not specified
GUncertain significance
HBA1, LOC106804613
(D7H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, LOC106804613
(D7Y)
Single nucleotide variant
(missense variant)
HEMOGLOBIN WOODVILLE
Gother
HBA1, LOC106804613
(D7N)
Single nucleotide variant
(missense variant)
HEMOGLOBIN DUNN
Gother
HBA1, LOC106804613
(D7G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, LOC106804613
(D7A)
Single nucleotide variant
(missense variant)
HEMOGLOBIN SAWARA
Gother
HBA1, LOC106804613
(D7V)
Single nucleotide variant
(missense variant)
HEMOGLOBIN FERNDOWN
Gother
HBA1, LOC106804613
(K8N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HBA1, LOC106804613
(N10K)
Single nucleotide variant
(missense variant)
HEMOGLOBIN DELFZICHT
Gother
HBA1, LOC106804613
(K12Q)
Single nucleotide variant
(missense variant)
HEMOGLOBIN WUMING
+1 more
Gother
HBA1, LOC106804613
(K12E)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ANANTHARAJ
Gother
HBA1, LOC106804613
(K12N)
Single nucleotide variant
(missense variant)
HEMOGLOBIN ALBANY-GEORGIA
+1 more
Gother
HBA1, LOC106804613
(A13D)
Single nucleotide variant
(missense variant)
HEMOGLOBIN J (PARIS 1)
+1 more
Gother
HBA1, LOC106804613
(W15R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
HBA1, LOC106804613
(W15*)
Single nucleotide variant
(missense variant)
HEMOGLOBIN EVANSTON
Gother
HBA1, LOC106804613
(W15*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GPathogenic
HBA1, LOC106804613
(G16R)
Single nucleotide variant
(missense variant)
HEMOGLOBIN SIAM
+1 more
Gother
HBA1, LOC106804613
(G16D)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HBA1, LOC106804613
(K17E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
HBA1, LOC106804613
(K17M)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HARBIN
Gother
HBA1, LOC106804613
(K17N)
Single nucleotide variant
(missense variant)
HEMOGLOBIN BEIJING
Gother
HBA1, LOC106804613
(G19S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HBA1, LOC106804613
(G19R)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HANDSWORTH
Gother
HBA1, LOC106804613
(G19D)
Single nucleotide variant
(missense variant)
HEMOGLOBIN AL-AIN ABU DHABI
Gother
HBA1, LOC106804613
(A20E)
Single nucleotide variant
(missense variant)
HEMOGLOBIN J (TASHIKUERGAN)
Gother
HBA1, LOC106804613
(H21Y)
Single nucleotide variant
(missense variant)
HEMOGLOBIN NECKER ENFANTS-MALADES
Gother
HBA1, LOC106804613
(A22fs)
Insertion
(frameshift variant)
not provided
GLikely pathogenic
LOC106804613, HBA1
(H21P)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HBA1, LOC106804613
(H21R)
Single nucleotide variant
(missense variant)
HEMOGLOBIN HOBART
Gother
HBA1, LOC106804613
(H21Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HBA1, LOC106804613
(A22P)
Single nucleotide variant
(missense variant)
HEMOGLOBIN FONTAINEBLEAU
Gother
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