U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 145

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ANKRD27, CD22
+193 more
Copy number loss
See cases
GPathogenic
LSR
Deletion
(frameshift variant)
not provided
GLikely benign
LSR
(R30P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GUncertain significance
LSR
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LSR
(L3Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(G6R)
Single nucleotide variant
(missense variant)
not provided
GBenign
LSR
(G6E)
Indel
(missense variant)
not provided
GUncertain significance
LSR
(G7R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(S9A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(G11E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
(H15Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LSR
(A19G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
(A23E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(V25I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(V25F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LSR
(L29F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(T33N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSR
Single nucleotide variant
(intron variant)
not provided
GBenign
LSR
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LSR
(V52M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(F83L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(R85W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(R87P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(A89T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LSR
(A91T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
(D98N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(Q104*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
(Y115F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(V116I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LSR
(D120Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LSR
Single nucleotide variant
(intron variant)
not provided
GBenign
LSR
(T160M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LSR
(E187G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LSR
(L191F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LSR
(R193S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LSR
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSR
(V196M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LSR
(V197F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LSR
(A203P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LSR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LSR
(C224del +1 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
LSR
(V226I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LSR
(C230R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LSR
Single nucleotide variant
(intron variant)
not provided
GBenign
LSR
(A244T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(A159T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(S165T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
(P221L +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LSR
(P290A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(G303R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Duplication
(inframe_insertion)
not provided
GLikely benign
LSR
(Y289S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(P241A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(D203N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(S247N +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LSR
(G320A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(S304A +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LSR
(P218S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(L259M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(T223R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
Single nucleotide variant
(intron variant)
not provided
GBenign
LSR
Deletion
(intron variant)
not provided
GBenign
LSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LSR
Deletion
(intron variant)
not provided
GLikely benign
LSR
(R272C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(D331A +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LSR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LSR
(L344V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(F299V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(P304R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(P356S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(P356R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(E272D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(V317F +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(D325N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(D324G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LSR
(D409N +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LSR
(G413D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(G353R +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LSR
(G403E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSR
(D424N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination