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Links from Gene

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BHLHE22-AS1, BHLHE22
(S234T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S219G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BHLHE22, BHLHE22-AS1
(A12T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G96S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S276A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(N186D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G172R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G13R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G102A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G97R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(A34G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
BHLHE22, BHLHE22-AS1
(Q343P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G224S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S227N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G202C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G222S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(E66Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
+1 more
(K128N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
+1 more
(G136R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G109S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G224A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22
(S372N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(A345V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S231G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(P78R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G225S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G96D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22
(S372R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S228G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S227G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BHLHE22, BHLHE22-AS1
(G13D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(S231T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(R3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(L321V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(P354S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BHLHE22, BHLHE22-AS1
(G199D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARMC1, BHLHE22
+4 more
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ADHFE1, ARFGEF1
+23 more
Copy number loss
not specified
GPathogenic
BHLHE22, CYP7B1
Copy number gain
not provided
GLikely benign
BHLHE22, CYP7B1
Copy number loss
not provided
GUncertain significance
BHLHE22, BHLHE22-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
ADHFE1, ARMC1
+14 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
BHLHE22, BHLHE22-AS1
Microsatellite
(inframe_insertion)
not specified
GLikely benign
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
ASPH, BHLHE22
+222 more
Copy number gain
See cases
GPathogenic
BHLHE22, BHLHE22-AS1
+12 more
Copy number loss
See cases
GUncertain significance
ADHFE1, ARMC1
+150 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+491 more
Copy number gain
See cases
GPathogenic
ASPH, BHLHE22
+79 more
Copy number loss
See cases
GPathogenic
ADHFE1, ARFGEF1
+228 more
Copy number loss
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
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