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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOBEC3A
+177 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+122 more
Copy number loss
See cases
GPathogenic
LOC130067459, LOC130067460
+273 more
Copy number gain
See cases
GPathogenic
TMEM184B
(A392T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(G382S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM184B
(R311H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(T369N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(H347Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(P346L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(M333T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(A331S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(V141I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(R135Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(A92T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM184B
(A45S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM184B
(V24I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM184B
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TMEM184B
(R4K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
H1-0, IFT27
+50 more
Deletion
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
ANKRD54, BAIAP2L2
+29 more
Deletion
not provided
GPathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
SH3BP1, CSNK1E
+25 more
Copy number loss
not provided
GPathogenic
NPTXR, FAM227A
+20 more
Copy number loss
See cases
GLikely pathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ANKRD54, APOBEC3A
+76 more
Copy number gain
See cases
GLikely pathogenic
ANKRD54, BAIAP2L2
+31 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
BAIAP2L2, C22orf23
+13 more
Copy number gain
See cases
GLikely pathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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