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 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
AXL
Single nucleotide variant
not provided
GBenign
AXL
Single nucleotide variant
not provided
GBenign
AXL
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AXL
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AXL
(A2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(R4Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
AXL-related disorder
GLikely benign
AXL
(A18V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
(P27L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AXL
(V38M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(I44V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(R48W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(R48P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(L50F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
(L54I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(L58V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(V60I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(R71Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(A79V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
AXL
(T112M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AXL
(F126S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(V127L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
AXL-related disorder
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AXL
(T149A)
Single nucleotide variant
(missense variant)
not provided
GBenign
AXL
Single nucleotide variant
(synonymous variant)
AXL-related disorder
GLikely benign
AXL
(T154N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(P165A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(Q175fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AXL
(A181S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
(S191P)
Indel
(missense variant)
AXL-related disorder
GUncertain significance
AXL
(V194I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
(R217H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GUncertain significance
AXL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
AXL
(A244G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
AXL
(S250N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXL
(I252V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
AXL
(T256A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
(A262T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
AXL
Single nucleotide variant
(5 prime UTR variant +1 more)
AXL-related disorder
GLikely benign
AXL
Variation
(no sequence alteration)
not provided
GBenign
AXL
(M269R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXL
(A273V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(G274E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(P282L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AXL
(S17L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
AXL-related disorder
+1 more
GBenign/Likely benign
AXL
(V21M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
(H24fs +1 more)
Deletion
(frameshift variant)
Amenorrhea
GUncertain significance
AXL
(H24D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(R295W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(H34L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
(S46N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AXL
(P61L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AXL
(G331E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not provided
GBenign
AXL
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
AXL
(V351L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
(R89W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AXL
(Q361P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AXL
Single nucleotide variant
(synonymous variant)
AXL-related disorder
GLikely benign
AXL
(G366R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXL
(T376P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination