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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD12
(V201fs)
Duplication
(frameshift variant)
PHARC syndrome
GPathogenic
ABHD12
Single nucleotide variant
(splice acceptor variant)
PHARC syndrome
GLikely pathogenic
ABHD12, LOC130065583
+3 more
Deletion
PHARC syndrome
GPathogenic
ABHD12
(G182R)
Single nucleotide variant
(missense variant)
PHARC syndrome
GUncertain significance
ABHD12, LOC130065586
(A32S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABHD12
(Q339*)
Single nucleotide variant
(nonsense)
PHARC syndrome
GPathogenic
ABHD12, LOC130065585
Single nucleotide variant
(intron variant)
PHARC syndrome
+1 more
GBenign
ABHD12, LOC130065585
Deletion
(intron variant)
PHARC syndrome
+1 more
GBenign
ABHD12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ABHD12
Insertion
(intron variant)
PHARC syndrome
+1 more
GBenign
ABHD12, LOC126863008
(G207V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12, LOC126863008
(R218Q)
Single nucleotide variant
(missense variant)
PHARC syndrome
+1 more
GUncertain significance
ABHD12
(C323R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12, LOC130065586
(A9V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12, LOC130065586
(A46G)
Single nucleotide variant
(missense variant)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
(A56V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12, LOC130065585
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12
(I84V)
Single nucleotide variant
(missense variant)
PHARC syndrome
+1 more
GUncertain significance
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(intron variant)
PHARC syndrome
GUncertain significance
ABHD12, LOC126863008
(V240M)
Single nucleotide variant
(missense variant)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GBenign
ABHD12
(R292Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
ABHD12
Single nucleotide variant
(intron variant)
PHARC syndrome
+1 more
GBenign
ABHD12
Deletion
(inframe_deletion)
PHARC syndrome
GLikely pathogenic
ABHD12
(Y83*)
Single nucleotide variant
(nonsense)
PHARC syndrome
GPathogenic
ABHD12
(R292*)
Single nucleotide variant
(nonsense)
PHARC syndrome
+1 more
GPathogenic/Likely pathogenic
ABHD12, LOC126863008
Single nucleotide variant
(splice acceptor variant)
PHARC syndrome
+1 more
GLikely pathogenic
ABHD12
(R71fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABHD12
(R279H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12
Single nucleotide variant
(intron variant)
PHARC syndrome
GUncertain significance
ABHD12, LOC130065586
Single nucleotide variant
PHARC syndrome
GUncertain significance
ABHD12, LOC130065586
Single nucleotide variant
PHARC syndrome
GUncertain significance
ABHD12, LOC130065586
Single nucleotide variant
not provided
+1 more
GBenign
LOC130065586, ABHD12
Single nucleotide variant
(5 prime UTR variant)
PHARC syndrome
GUncertain significance
ABHD12, LOC130065586
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
ABHD12, LOC130065586
Deletion
(5 prime UTR variant)
PHARC syndrome
GUncertain significance
ABHD12, LOC130065586
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12, LOC130065586
Insertion
(5 prime UTR variant)
not provided
+1 more
GBenign
ABHD12
(V68M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ABHD12
(V68A)
Single nucleotide variant
(missense variant)
PHARC syndrome
+1 more
GUncertain significance
ABHD12
(I112F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD12
Single nucleotide variant
(synonymous variant)
ABHD12-related disorder
+2 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(intron variant)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
(R257W)
Single nucleotide variant
(missense variant)
ABHD12-related disorder
+2 more
GConflicting classifications of pathogenicity
ABHD12
(A268S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ABHD12
Single nucleotide variant
(intron variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(intron variant +1 more)
PHARC syndrome
+1 more
GBenign
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
+1 more
GBenign
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
+1 more
GBenign
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GBenign
ABHD12
Deletion
(intron variant +1 more)
PHARC syndrome
GLikely benign
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Deletion
(3 prime UTR variant +1 more)
PHARC syndrome
GUncertain significance
ABHD12
Single nucleotide variant
(intron variant +1 more)
PHARC syndrome
GLikely benign
ABHD12
Single nucleotide variant
(synonymous variant)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
(P324L)
Single nucleotide variant
(missense variant)
PHARC syndrome
GLikely pathogenic
ABHD12, LOC130065583
+3 more
Deletion
PHARC syndrome
GPathogenic
ABHD12
(Q397*)
Single nucleotide variant
(nonsense +1 more)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
(R186P)
Single nucleotide variant
(missense variant)
PHARC syndrome
+1 more
GConflicting classifications of pathogenicity
ABHD12
(W159*)
Single nucleotide variant
(nonsense)
PHARC syndrome
GPathogenic
ABHD12
(H372Q)
Single nucleotide variant
(missense variant)
PHARC syndrome
GPathogenic
ABHD12
Single nucleotide variant
(synonymous variant)
PHARC syndrome
+2 more
GBenign
ABHD12
Single nucleotide variant
(synonymous variant)
PHARC syndrome
+2 more
GBenign
ABHD12
(A349T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ABHD12
(R352*)
Single nucleotide variant
(nonsense)
PHARC syndrome
+1 more
GPathogenic
ABHD12
(H285*)
Duplication
(nonsense)
PHARC syndrome
GPathogenic
ABHD12, LOC130065583
+3 more
Indel
PHARC syndrome
GPathogenic
ABHD12
(D113fs)
Indel
(frameshift variant)
not provided
GPathogenic
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