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Links from MedGen

Items: 1 to 100 of 589

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AR
Deletion
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(S369F +2 more)
Single nucleotide variant
(missense variant)
Androgen resistance syndrome
+1 more
GUncertain significance
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Insertion
(nonsense +2 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(C83fs +1 more)
Deletion
(frameshift variant +1 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(V50D +2 more)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GUncertain significance
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(Y783C +2 more)
Single nucleotide variant
(missense variant)
Androgen resistance syndrome
+1 more
GUncertain significance
AR, LOC109504725
Microsatellite
(nonsense +3 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Deletion
(nonsense +1 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR, LOC109504725
(Q90H)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(Q571P)
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(splice acceptor variant)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR, LOC109504725
(Q63*)
Single nucleotide variant
(nonsense +1 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+2 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR, LOC109504725
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Duplication
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(L823Q +2 more)
Single nucleotide variant
(missense variant)
Androgen resistance syndrome
+1 more
GUncertain significance
AR
(D183fs)
Duplication
(frameshift variant +1 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(F828L +2 more)
Single nucleotide variant
(missense variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(R386H)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Microsatellite
(inframe_insertion +2 more)
Androgen resistance syndrome
+1 more
GBenign
AR
(I558S)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GUncertain significance
AR
(Q198L)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
(R40K)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GBenign
AR
(S207R)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GBenign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
(G474del +1 more)
Microsatellite
(inframe_deletion +2 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(intron variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant +1 more)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
AR
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
AR
(K582N +2 more)
Single nucleotide variant
(missense variant +1 more)
Androgen resistance syndrome
+1 more
GLikely pathogenic
AR, LOC109504725
(Q64*)
Single nucleotide variant
(nonsense +1 more)
Androgen resistance syndrome
+1 more
GPathogenic
AR
Single nucleotide variant
(synonymous variant)
Androgen resistance syndrome
+1 more
GLikely benign
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