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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMC5
(E850* +2 more)
Single nucleotide variant
(nonsense +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GUncertain significance
ARMC5
(G195R +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GUncertain significance
ARMC5
(R334C +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GUncertain significance
ARMC5
(A409fs +2 more)
Duplication
(frameshift variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5, LOC130058906
(V114fs +2 more)
Duplication
(frameshift variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(C813fs +2 more)
Deletion
(frameshift variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5, LOC130058906
(S127fs +2 more)
Deletion
(frameshift variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(L676fs +2 more)
Deletion
(frameshift variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(E154fs +2 more)
Duplication
(frameshift variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(R811P +2 more)
Single nucleotide variant
(missense variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GLikely pathogenic
ARMC5
(L596R +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GLikely pathogenic
ARMC5
(G323D +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GLikely pathogenic
ARMC5
(R764* +2 more)
Single nucleotide variant
(nonsense +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(P731R +2 more)
Single nucleotide variant
(missense variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
+2 more
GConflicting classifications of pathogenicity
ARMC5
(R886H +2 more)
Single nucleotide variant
(missense variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GUncertain significance
ARMC5
(S688T)
Single nucleotide variant
(missense variant +1 more)
ARMC5-related disorder
+1 more
GConflicting classifications of pathogenicity
ARMC5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ARMC5, LOC130058906
(L188F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ARMC5
(L686fs +2 more)
Microsatellite
(frameshift variant)
ACTH-independent macronodular adrenal hyperplasia 2
GLikely pathogenic
ARMC5
(L365P +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(R593W +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(G152fs +2 more)
Deletion
(frameshift variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(L548P +2 more)
Single nucleotide variant
(missense variant)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5, LOC130058906
(Q86* +2 more)
Single nucleotide variant
(nonsense)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(R898W +2 more)
Single nucleotide variant
(missense variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
ARMC5
(R267* +2 more)
Single nucleotide variant
(nonsense)
ACTH-independent macronodular adrenal hyperplasia 2
GPathogenic
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