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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996415, LOC129996416
+435 more
Copy number loss
See cases
GPathogenic
LOC132089395, LOC132089396
+324 more
Copy number loss
See cases
GPathogenic
AARS2, ABCC10
+221 more
Copy number loss
See cases
GPathogenic
KLC4
(G5V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
KLC4
Single nucleotide variant
(intron variant)
not provided
GBenign
KLC4
(P11L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
KLC4
(R27Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(A13G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R34Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R27W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(A68D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R73H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(I78M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(V105G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLC4
(Q108E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLC4
(A138V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLC4
(Q170K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLC4
(R154Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLC4
(E108* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
KLC4
(N112S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R211H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(A200V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(G127V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(E239G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(H172Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(P250T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(G211R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(D213G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(Y305C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R320Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(T254M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R358H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(I366V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R380W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(E415D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R331C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(D438N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(M434I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(G443R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(G451R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(Y453C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R399C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R399H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R417Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(E453K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(G531R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(V460L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R482Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(L491F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLC4
(R606Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC10, BICRAL
+43 more
Deletion
not provided
GUncertain significance
ABCC10, BICRAL
+57 more
Duplication
PRPH2-related disorder
GUncertain significance
ABCC10, BICRAL
+58 more
Deletion
Peroxisome biogenesis disorder
GPathogenic
BICRAL, C6orf226
+16 more
Copy number gain
not provided
GUncertain significance
DLK2, ABCC10
+27 more
Deletion
not provided
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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