U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
ADGRL1, ADGRL1-AS1
+87 more
Copy number loss
See cases
GUncertain significance
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
RLN3
(A11V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RLN3
(P21L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RLN3
(Y30H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RLN3
(R41*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
RLN3
(D56H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RLN3
(H60R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RLN3
(E61K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RLN3
(D75G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
RLN3
(G79D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
RLN3
(D82G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
RLN3
(S96*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
RLN3
(D119H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
RLN3
(L121P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CYP4F8, DCAF15
+109 more
Copy number gain
not specified
GUncertain significance
ADGRE2, ADGRE3
+55 more
Copy number loss
not specified
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRE5, ADGRL1
+64 more
Copy number loss
See cases
GPathogenic
ADGRE5, ADGRL1
+30 more
Copy number loss
See cases
GLikely pathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
RLN3
Copy number gain
See cases
GLikely benign
IL27RA, RLN3
Copy number gain
See cases
Gconflicting data from submitters
IL27RA, RLN3
Copy number gain
See cases
Gconflicting data from submitters
Format
Items per page
Sort by
Choose Destination