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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
CREG1
(N216I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1
(I208F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1
(G204D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1
(L192F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1
(R174Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1
(A130S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(A86V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(A86P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
Single nucleotide variant
(synonymous variant)
CREG1-related disorder
GLikely benign
CREG1, LOC129931856
(R81S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(P47L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
Single nucleotide variant
(synonymous variant)
CREG1-related disorder
GLikely benign
CREG1, LOC129931856
(S44F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(H37Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(R30Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(V26A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(A15T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(A11V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CREG1, LOC129931856
(R6C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
ADCY10, CD247
+9 more
Duplication
Immunodeficiency 25
GUncertain significance
ADCY10, ATP1B1
+39 more
Copy number loss
not specified
GPathogenic
ADCY10, ALDH9A1
+62 more
Copy number loss
not specified
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
STYXL2, GPR161
+30 more
Copy number loss
not provided
GLikely pathogenic
METTL13, METTL18
+60 more
Copy number loss
not provided
GPathogenic
CREG1, TADA1
+8 more
Copy number loss
not provided
GUncertain significance
ADCY10, ALDH9A1
+30 more
Copy number loss
not provided
GPathogenic
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
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