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Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02168, LINC02169
+675 more
Copy number gain
See cases
GPathogenic
LOC130059466, LOC130059467
+1738 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+176 more
Copy number loss
See cases
GPathogenic
LOC128772417, LOC128772418
+939 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+217 more
Copy number loss
See cases
GPathogenic
ACD, ACSF3
+1429 more
Copy number gain
See cases
GPathogenic
LOC130059153, LOC130059154
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+869 more
Copy number gain
See cases
GPathogenic
ATP6V0D1, B3GNT9
+113 more
Copy number loss
See cases
GPathogenic
ACD, AGRP
+155 more
Copy number loss
See cases
GPathogenic
HSD11B2
Single nucleotide variant
not provided
GLikely benign
HSD11B2
Single nucleotide variant
not provided
GBenign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSD11B2
(R25S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
Deletion
(nonsense)
Apparent mineralocorticoid excess
GPathogenic
HSD11B2
(L28fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(A42T)
Single nucleotide variant
(missense variant)
not provided
GBenign
HSD11B2
(A57fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HSD11B2
(L58F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Insertion
(inframe_insertion)
not provided
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(R74fs)
Indel
(frameshift variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
(P79L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
(G89D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HSD11B2
(D91A)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Deletion
(inframe_deletion)
Apparent mineralocorticoid excess, mild
+1 more
GConflicting classifications of pathogenicity
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(G120S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(R147H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(A154T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
HSD11B2
(T159N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
(G160S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(N171S)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HSD11B2
(L179P)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
(F185L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(R186C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HSD11B2
(S187G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(A196T)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
(A196G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
HSD11B2-related condition
+2 more
GBenign
HSD11B2
(R208C)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GLikely pathogenic
HSD11B2
(R208H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HSD11B2
(R213C)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GPathogenic
HSD11B2
(V215M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
Duplication
(intron variant)
Apparent mineralocorticoid excess
+1 more
GBenign/Likely benign
HSD11B2
Deletion
(intron variant)
not provided
+1 more
GBenign
HSD11B2
Single nucleotide variant
(intron variant)
not provided
GBenign
HSD11B2
Single nucleotide variant
(intron variant)
Apparent mineralocorticoid excess
GPathogenic
HSD11B2
Single nucleotide variant
(intron variant)
HSD11B2-related condition
GLikely benign
HSD11B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HSD11B2
(D223N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(P227L)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess, mild
GPathogenic
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSD11B2
(K236Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(K236I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
(A237V)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
(V239M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(M243T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(F246fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HSD11B2
(E249K)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
HSD11B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HSD11B2
Single nucleotide variant
(intron variant)
not provided
GBenign
HSD11B2
(V273M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
HSD11B2
(R279C)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GPathogenic
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(Q289K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(Y299del)
Deletion
(inframe_deletion)
Apparent mineralocorticoid excess
GPathogenic
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(H309Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
(R312C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSD11B2
(R312H)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
+1 more
GUncertain significance
HSD11B2
(M315I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD11B2
(S316F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD11B2
(D317N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSD11B2
(L318P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
Duplication
(inframe_insertion)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
(A328V)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GLikely pathogenic
HSD11B2
(L330R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD11B2
(R333W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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