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Items: 1 to 100 of 161

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
EFHB, KAT2B
+115 more
Copy number gain
See cases
GPathogenic
LINC00691, LOC121725135
+34 more
Copy number gain
See cases
GUncertain significance
LOC126806629, NKIRAS1
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC126806629, NKIRAS1
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC126806629, NKIRAS1
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(Q8P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(L10P)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(S16C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(M19V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
NKIRAS1, RPL15
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
(Q29K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(Q29H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(S34F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
(A35T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(P40S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(R41L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(P42S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R44fs)
Deletion
(frameshift variant +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
(T43I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(D46E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R49C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R49H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
(L51V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Deletion
(intron variant +1 more)
not provided
GPathogenic
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(K56E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 12
+1 more
GConflicting classifications of pathogenicity
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Indel
(intron variant)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GBenign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GBenign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NKIRAS1, RPL15
(V60I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(I61T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R65H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(V66I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NKIRAS1, RPL15
(R67H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
(R71*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
NKIRAS1, RPL15
(R71Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(K72R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R73C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(P76L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(Y81*)
Duplication
(nonsense +1 more)
not provided
GPathogenic
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NKIRAS1, RPL15
(G82S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(H86R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(L92I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(Q99H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(A102P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Deletion
(intron variant +2 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
RPL15-related disorder
GLikely benign
NKIRAS1, RPL15
Deletion
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
NKIRAS1, RPL15
(R105L)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 12
GLikely pathogenic
NKIRAS1, RPL15
(G107A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
(R108S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R108H)
Single nucleotide variant
(missense variant +1 more)
RPL15-related disorder
+1 more
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NKIRAS1, RPL15
(R114T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(N117D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(G122C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(K128T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NKIRAS1, RPL15
(K128R)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
NKIRAS1, RPL15
(F129Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NKIRAS1, RPL15
(I135M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKIRAS1, RPL15
(R143G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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