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Links from Gene

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HERC4
(N645K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(E896K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(N1043S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(E900K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(G608E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(N280K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(G5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(D172E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(W155C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
HERC4, MYPN
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
HERC4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HERC4
(D651N +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HERC4
(Q1002R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(H213R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
HERC4
(I942T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(F968V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(Q118H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(R35K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
HERC4
(K87R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(I321M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(G750R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(G161E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(Y147C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(I1045N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(A1047V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(D111N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(P473S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(S588C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(Y776C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(E157K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(F331Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(L23Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(R706H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(Y106C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(P138S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(I790V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(Y231C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HERC4
(A902T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(T397K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(I702T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HERC4
(D515N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATOH7, HERC4
+2 more
Copy number loss
not provided
GUncertain significance
DNAJC12, HERC4
+2 more
Copy number gain
not provided
GUncertain significance
ATOH7, HERC4
+2 more
Copy number loss
not provided
GUncertain significance
ADAMTS14, ADK
+91 more
Copy number loss
not specified
GPathogenic
ATOH7, CCAR1
+24 more
Deletion
not provided
GPathogenic
DNAJC12, MYPN
+2 more
Copy number gain
not provided
GUncertain significance
MYPN, HERC4
+5 more
Copy number gain
not provided
GUncertain significance
HERC4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
HERC4
Deletion
(intron variant)
not provided
GBenign
ACTA2, ADAMTS14
+168 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
HERC4, HNRNPH3
+14 more
Copy number loss
not provided
GLikely pathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
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