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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC112935964, LOC112935965
+171 more
Copy number gain
See cases
GLikely pathogenic
ABHD10, ABI3BP
+431 more
Copy number loss
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ABHD10, ABI3BP
+398 more
Copy number loss
See cases
GPathogenic
ADGRG7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADGRG7
(G22C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(T49A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(E50D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(E81G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(F90S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(G106S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(G106V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7, LOC129937149
+2 more
Duplication
Gestational diabetes mellitus uncontrolled
+1 more
Gnot provided
ADGRG7
(A112V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(M116T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(R119W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(R119Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(K148R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(T175A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ADGRG7
(T183M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ADGRG7
(T207R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ADGRG7
(D228Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7, LOC129937149
+2 more
Copy number gain
See cases
GBenign/Likely benign
ADGRG7, LOC129937149
+2 more
Copy number gain
See cases
GBenign
ADGRG7, LOC129937149
+2 more
Copy number gain
See cases
GBenign/Likely benign
ADGRG7
(I235V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
(I235T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
(V250L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
(V251L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
(F262L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
(R274C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
(Q278K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRG7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADGRG7
(I292V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ADGRG7
(K24N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(Y326C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(L331V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(S46L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(S362A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(Y379F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(D99H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(G397D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(K400E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(R116H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRG7
(N122S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(K432Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(N144S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(C442S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(L149P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(A155T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ADGRG7
(V470I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(L201F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(D502N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(M230V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(T542P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(A250S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(A548T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(M559I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(R269Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRG7
(L277F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADGRG7
(R604W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(P321fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
ADGRG7
(P623L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(W331L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(S343N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(M642R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(V700F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(S702N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(F413L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(V427L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(F727V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(A731T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADGRG7
(R449S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRG7
(P753L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRG7
(R461H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADGRG7
(T768A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRG7
(T473N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADGRG7
(H770R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADGRG7
(R477H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRG7
(P780L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRG7
(T491I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABI3BP, ADGRG7
+16 more
Deletion
not provided
GUncertain significance
ABI3BP, ADGRG7
+41 more
Copy number gain
not specified
GUncertain significance
ABI3BP, ADGRG7
+11 more
Copy number loss
not specified
GUncertain significance
OR5AC2, GPR15
+39 more
Copy number loss
not provided
GLikely pathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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