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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
C1orf74, CAMK1G
+97 more
Copy number loss
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
G0S2, HSD11B1-AS1
(E6K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G0S2, HSD11B1-AS1
(E44V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G0S2, HSD11B1-AS1
(A53T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G0S2, HSD11B1-AS1
(D58E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G0S2, HSD11B1-AS1
(G92S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G0S2, HSD11B1-AS1
(G93S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HSD11B1, HSD11B1-AS1
(P10L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(synonymous variant)
HSD11B1-related disorder
GBenign
HSD11B1, HSD11B1-AS1
(Y88H)
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
(G107A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
Duplication
(intron variant)
Cortisone reductase deficiency 2
GBenign
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
Cortisone reductase deficiency 2
GBenign
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
Cortisone reductase deficiency 2
GUncertain significance
HSD11B1, HSD11B1-AS1
(V136E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(R137C)
Single nucleotide variant
(missense variant)
Cortisone reductase deficiency 2
GPathogenic
HSD11B1, HSD11B1-AS1
(S161N)
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
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
HSD11B1, HSD11B1-AS1
(K187N)
Single nucleotide variant
(missense variant)
Cortisone reductase deficiency 2
GPathogenic
HSD11B1, HSD11B1-AS1
(G216A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
(V227fs)
Insertion
(frameshift variant)
Exstrophy-epispadias complex
GUncertain significance
HSD11B1, HSD11B1-AS1
(A236V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD11B1, HSD11B1-AS1
Single nucleotide variant
(synonymous variant)
HSD11B1-related disorder
+2 more
GBenign/Likely benign
HSD11B1, HSD11B1-AS1
(T282M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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