U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
BTC, CABS1
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LOC129992714, LOC129992715
+236 more
Copy number loss
See cases
GPathogenic
ANXA3, ART3
+107 more
Copy number gain
See cases
GPathogenic
BMP2K, BMP2K-DT
+15 more
Copy number gain
Autism spectrum disorder
GUncertain significance
BMP2K
(M7V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(G15D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(G20A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(G24D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(G33A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(F44L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(Q50P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(N84D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(R94K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(I98V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(C114S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(V126I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(T148M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(C163S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(V166A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(P175T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(Y229C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(I249T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(N277S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BMP2K
(R285C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(N289Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(P302L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(I333V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(P340L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(I368V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(L387R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(F404L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(Q429K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(H457R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(H459D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(H459L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(Q532E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(Q532H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(P555L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(Y578H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(V586A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(N597S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(P619S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(S633C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K
(L635F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K, PAQR3
(E675G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K, PAQR3
(P716S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K, PAQR3
(N736D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K, PAQR3
(V931I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BMP2K, PAQR3
(S1029T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP2K, PAQR3
(Q1161* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GBenign/Likely benign
ANXA3, BMP2K
+4 more
Copy number loss
not specified
GUncertain significance
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
ABCG2, ABRAXAS1
+63 more
Copy number loss
not specified
GPathogenic
ABCG2, ABRAXAS1
+91 more
Copy number gain
not specified
GPathogenic
CXCL5, CXCL6
+51 more
Copy number loss
not specified
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ABRAXAS1, ADAMTS3
+97 more
Copy number loss
See cases
GPathogenic
CXCL3, LIN54
+82 more
Copy number loss
not provided
GPathogenic
ADAMTS3, AFM
+92 more
Copy number loss
not provided
GPathogenic
ABRAXAS1, ANTXR2
+29 more
Copy number loss
not provided
GPathogenic
CCNG2, CCNI
+109 more
Copy number gain
not provided
GPathogenic
BMP2K, ANXA3
+6 more
Copy number loss
not provided
GUncertain significance
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination