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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+558 more
Copy number loss
See cases
GPathogenic
ASCC3, CCNC
+68 more
Copy number loss
See cases
GPathogenic
ASCC3, CCNC
+53 more
Copy number loss
See cases
GPathogenic
CCNC, COQ3
+38 more
Copy number loss
See cases
GUncertain significance
COQ3, FAXC
+28 more
Deletion
not provided
GUncertain significance
PNISR
(V784M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
PNISR
(R782Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R762Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(S754P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(I714M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(I714V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(S726C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(L711F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(Q688H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R666K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R653G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(E646K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R646C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R640H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R604S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R617H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(N609S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(N609D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(S579C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(N567S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R561G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R562I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(R526C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(S496G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(N469K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(E454Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126859748, PNISR
(D411G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859748, PNISR
(S390F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859748, PNISR
(S387A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859748, PNISR
(S401N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(R363H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PNISR
(K287R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(A274T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(E252G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(A214T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(P194L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(P188L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(P175L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNISR
(S131I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(P122L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(M117V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(Q107H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(D106E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(P104T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PNISR
(N75I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ASCC3, CCNC
+20 more
Copy number gain
not specified
GUncertain significance
AFG1L, ARMC2
+43 more
Copy number loss
not provided
GPathogenic
ASCC3, BVES
+21 more
Copy number loss
not provided
GPathogenic
ASCC3, BVES
+22 more
Copy number loss
not provided
GPathogenic
COQ3, FAXC
+4 more
Copy number loss
not provided
GLikely pathogenic
ASCC3, CCNC
+20 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+98 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
PREP, QRSL1
+66 more
Copy number loss
Deletion 6q16 q21
GPathogenic
CCNC, COQ3
+7 more
Copy number loss
not provided
GLikely pathogenic
FAXC, FBXL4
+7 more
Copy number loss
not provided
GUncertain significance
COQ3, FAXC
+5 more
Copy number gain
not provided
GUncertain significance
AFG1L, AK9
+80 more
Copy number loss
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ZBTB24, AFG1L
+49 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+44 more
Copy number loss
See cases
GPathogenic
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