U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
ZNF765, ZNF765-ZNF761
(Q29R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(D35H)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(V36L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(M2T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(H70R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(H42N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(I44T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(G108V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(R125Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(N80Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(L87V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(Y139C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(G193V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(L197V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(K232E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(G196R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(V258I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(R207H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(R237C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(R237H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(G242R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(E243Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(D305E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(F257I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(S312P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(H264R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(I320T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(N330S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(R293H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(V376L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF765, ZNF765-ZNF761
(R349C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(L351F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(H352N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(C413G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(P384S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(T421N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(E497D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(D447N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF765, ZNF765-ZNF761
(V523M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(I15V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(E16A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(Y41H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(E57K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(K92R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(H187Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(F279C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(H288Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(P465R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(K478R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF761, ZNF765-ZNF761
(L705V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination