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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
CCR7
(M366V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(R300H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(R299W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(W292R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(K333R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(A321T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(R255H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(A255S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(N196K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(Q227E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCR7
(V74M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCR7
(M1V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCR7
(S9N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
CCR7, IGFBP4
+3 more
Copy number gain
See cases
GLikely benign
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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