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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
LOC130004132, LOC130004133
+150 more
Copy number loss
See cases
GPathogenic
LOC126860957, ZSWIM8
(P168S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(T268I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(S292L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R342H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(V347I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(Q381R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R442Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(Q447R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(V459I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(K466T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(T467M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R476W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(P493S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(G499V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(T500I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(L504V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(L506P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R510W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R510Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R520H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(S527P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R528W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R532Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(G571R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(L588R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(A591V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(G602A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(S626G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(G652S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(P656A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(P689A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(P703L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(E707D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(N710S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZSWIM8
(L712F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(A718T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(D728G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(A731T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(N735T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(G741R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(F758L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(A782V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(Y785H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(P811L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(A837V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R847H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R847P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(C934Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(R939Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZSWIM8
(A1002G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(E1020K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1032C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(A1106S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(S1119N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(Y1123H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1133W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(A1174T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(G1179S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1208W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZSWIM8-AS1, NDST2-ZSWIM8-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1355K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(K1385R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(E1398K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(M1402V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1459W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1454Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(M1461T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(G1459D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(T1469A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(V1484I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(P1516S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZSWIM8, ZSWIM8-AS1
+1 more
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(M1540I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(V1565G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(P1572T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(L1601F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(A1619V +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(P1638L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1689H +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(P1687L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1705C)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(S1714P)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GLikely benign
ZSWIM8-AS1, NDST2-ZSWIM8-AS1
+1 more
(A1743T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(A1787G +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
+1 more
(R1766C)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
(M1800I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
(M1803V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
(M1829L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
(T1834N +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDST2-ZSWIM8-AS1, ZSWIM8
(R1879H)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GLikely benign
NDST2-ZSWIM8-AS1, ZSWIM8
(N1891S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ADAMTS14, ADK
+91 more
Copy number loss
not specified
GPathogenic
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