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Links from Gene

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD11B1, HSD11B1-AS1
(I121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
HSD11B1, HSD11B1-AS1
(T282M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(V136E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(T97S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(Y88H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(synonymous variant)
HSD11B1-related disorder
GBenign
HSD11B1, HSD11B1-AS1
(V227fs)
Insertion
(frameshift variant)
Exstrophy-epispadias complex
GUncertain significance
HSD11B1, HSD11B1-AS1
(G216A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(G107A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(P10L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(V168I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(S161N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(A236V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
G0S2, TRAF3IP3
+9 more
Copy number gain
not provided
GUncertain significance
CD34, MDM4
+145 more
Copy number gain
not provided
Gnot provided
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANGEL2, ATF3
+63 more
Copy number gain
not provided
GUncertain significance
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
CAMK1G, CD34
+75 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
C1orf74, CAMK1G
+9 more
Copy number loss
See cases
GPathogenic
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
HSD11B1, HSD11B1-AS1
Duplication
(intron variant)
Cortisone reductase deficiency 2
GBenign
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
C1orf74, CAMK1G
+97 more
Copy number loss
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
HSD11B1, HSD11B1-AS1
(K187N)
Single nucleotide variant
(missense variant)
Cortisone reductase deficiency 2
GPathogenic
HSD11B1, HSD11B1-AS1
(R137C)
Single nucleotide variant
(missense variant)
Cortisone reductase deficiency 2
GPathogenic
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
Cortisone reductase deficiency 2
GUncertain significance
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