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 359

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
ADAM23, C2orf80
+131 more
Copy number loss
See cases
GPathogenic
ADAM23, CMKLR2
+30 more
Copy number gain
See cases
GLikely pathogenic
NRP2
(M3K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(Y14C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(Y14F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(Q19E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(D25N)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(G29R)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(R31H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(P46R)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(E56K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRP2
(A61T)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(E63K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRP2
(E63fs)
Deletion
(frameshift variant)
NRP2-related disorder
GUncertain significance
NRP2
(P64L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
(I88V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(E89*)
Single nucleotide variant
(nonsense)
NRP2-related disorder
GUncertain significance
NRP2
(D94H)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(G102S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(I113V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(K123R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(E140Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
(N157I)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(G158R)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(S162T)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(T176I)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(M185L)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(M185K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(I187V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(D217N)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
(P224T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(R239H)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GLikely benign
NRP2
(T242M)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRP2
(A262V)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(R263H)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GLikely benign
NRP2
(V279I)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(P280S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NRP2
(M283V)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(E284K)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(R287W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(R287Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
NRP2
Single nucleotide variant
(synonymous variant)
NRP2-related disorder
GBenign
NRP2
(G302R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(G302E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(T305N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(R310Q)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(N321I)
Single nucleotide variant
(missense variant)
not provided
GBenign
NRP2
(S324C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRP2
(Q330H)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(intron variant)
NRP2-related disorder
GLikely benign
NRP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRP2
(R334S)
Single nucleotide variant
(missense variant)
NRP2-related disorder
GUncertain significance
NRP2
(R334C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination