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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
AHSP, ARMC5
+136 more
Copy number gain
See cases
GPathogenic
ZNF267
(D8A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ZNF267
(V15G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(P50L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(E68D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(T70I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IGHV3OR16-8, LOC105369266
+8 more
Copy number loss
See cases
GBenign
ZNF267
(E88D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(R116T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(F102L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(V168I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(L143H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(Y184H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(N187S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(N220T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(Q227E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(S198N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(L254H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(Q223E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(M257T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ZNF267
(I314T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(H333R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(T313A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(E314K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(D374G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(T343N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(Y380N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(I364V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(T427I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(E461G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(R443C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(H486R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(Y559C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(P543T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(R591W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(R647W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(R682T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(C686W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF267
(R696G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STX4, DCTPP1
+52 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AHSP, ALDOA
+99 more
Copy number loss
See cases
GLikely pathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
AHSP, ARMC5
+15 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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