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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
AIDA, BROX
+84 more
Copy number loss
See cases
GPathogenic
AIDA, BROX
+35 more
Copy number loss
See cases
GLikely pathogenic
SUSD4
(T473S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(A543E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(T466M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R520T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(L512F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(S437F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(M467L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SUSD4
(V446I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(S362G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R430Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R358W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(V337I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(Y298F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(Q362H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(D275H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R331W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(P330L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(V327I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SUSD4
(G252R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R236P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R236G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(Y208C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(I206V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(S187T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SUSD4
(R238H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(H220R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(R195H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(D193E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SUSD4
(E192K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(F76S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(V74L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(G72R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(P142A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(P135L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(L126R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACBD3, ACBD3-AS1
+287 more
Copy number loss
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
SUSD4
(T48M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUSD4
(L29P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUSD4
(S25Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUSD4
(Q24R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUSD4
(D11N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUSD4
(P7L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACBD3, AIDA
+53 more
Copy number loss
not provided
GPathogenic
AIDA, BROX
+11 more
Copy number gain
not specified
GUncertain significance
AIDA, BROX
+11 more
Copy number loss
not provided
GUncertain significance
AIDA, BROX
+21 more
Copy number loss
not provided
GUncertain significance
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
DISP1, SUSD4
+1 more
Copy number gain
not specified
GUncertain significance
ACBD3, AIDA
+38 more
Copy number gain
not specified
GPathogenic
DISP1, SUSD4
+1 more
Copy number gain
not provided
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
TLR5, DEGS1
+16 more
Copy number loss
not provided
GPathogenic
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
SUSD4
Copy number loss
not provided
GUncertain significance
PSEN2, FBXO28
+42 more
Copy number loss
not provided
GPathogenic
CCDC185, NTPCR
+127 more
Copy number gain
not provided
GPathogenic
BROX, HHIPL2
+24 more
Copy number loss
not provided
GPathogenic
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
H2BC26, H3-3A
+213 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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