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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
LOC129997480, LOC129997522
+288 more
Deletion
Chromosome 6q24-q25 deletion syndrome
GPathogenic
AKAP12, ARID1B
+288 more
Copy number loss
See cases
GPathogenic
AKAP12, ARID1B
+208 more
Copy number loss
Coffin-Siris syndrome 1
GPathogenic
SYNE1, SYNE1-AS1
+31 more
Deletion
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+1 more
GPathogenic
LOC101929460, LOC102724087
+572 more
Copy number gain
See cases
GPathogenic
LOC129997640, LOC129997641
+564 more
Copy number loss
See cases
GPathogenic
MTRF1L
(S371Y +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MTRF1L
(E370A +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MTRF1L
(L327W +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MTRF1L
(H344L +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MTRF1L
(D194N +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MTRF1L
(N190S +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MTRF1L
(D233E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(E303K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(K148E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(V129L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(H265R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(R120Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(G108A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(S75G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(H164Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(G150C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(H143Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTRF1L
(K105E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MTRF1L
(L85M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MTRF1L
(E82K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129997490, MTRF1L
(L65P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129997490, MTRF1L
(L64S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129997491, MTRF1L
(G52R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129997491, MTRF1L
(E48A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129997491, MTRF1L
(G29D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC129997491, MTRF1L
(V19L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MTRF1L
(A10V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MTRF1L, FBXO5
+5 more
Deletion
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+1 more
GPathogenic
ACAT2, AFDN
+79 more
Copy number loss
See cases
GPathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
ACAT2, AGPAT4
+44 more
Copy number loss
not specified
GPathogenic
CLDN20, CNKSR3
+9 more
Copy number loss
not specified
GUncertain significance
MTRF1L, AKAP12
+14 more
Copy number gain
not provided
GLikely pathogenic
AKAP12, ARMT1
+31 more
Copy number loss
not provided
GPathogenic
AKAP12, ARID1B
+58 more
Copy number gain
not provided
GPathogenic
FNDC1, FRMD1
+86 more
Complex
Coffin-Siris syndrome 1
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+87 more
Copy number gain
See cases
GPathogenic
SYNE1-AS1, FBXO5
+5 more
Copy number gain
See cases
GUncertain significance
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