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Links from Gene

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF44
(S39R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(P304R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(T388A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(C575S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(E388Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(R301W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(A576T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(R181H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(R181C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(P145T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF44
(Q134H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF44
(H104Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF44
(R425C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(K336R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(T248S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(D302E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(S295A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIR199A1, ODAD3
+87 more
Copy number loss
not specified
GPathogenic
ZNF44
(H386fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
BEST2, CACNA1A
+39 more
Copy number gain
not provided
GLikely pathogenic
ZNF44
(F6S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF44
(G413R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(E132K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(G44S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF44
(Y560C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(P405S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP5, ANGPTL8
+68 more
Duplication
not provided
GUncertain significance
ACP5, ANGPTL8
+81 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate B
+4 more
GUncertain significance
ZNF44
(F175S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(P356H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(P196T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(R49G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(H434Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(I87T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF44
(T385S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(F459V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(R493C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(R479H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(A149G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(Q229R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(K312E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(W176S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(M352I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(N19S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF44
(S618I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(T527M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(I389M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF44
(P181A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF563, ZNF442
+2 more
Copy number loss
not provided
GLikely benign
ZNF653, ZNF69
+63 more
Copy number loss
not provided
Gnot provided
ZNF44
(R2P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ZNF44
(T268I +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZNF44
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZNF44
(H491Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZNF44
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BEST2, CACNA1A
+38 more
Copy number loss
not provided
GPathogenic
ACP5, ANGPTL8
+63 more
Deletion
not provided
Gnot provided
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
BEST2, CACNA1A
+41 more
Copy number loss
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
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