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Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
ADCK1, AHSA1
+155 more
Copy number loss
See cases
GPathogenic
ADCK1, AHSA1
+72 more
Copy number loss
See cases
GLikely pathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
AHSA1, GSTZ1
+25 more
Duplication
Neuropathy, hereditary sensory and autonomic, type 1C
GUncertain significance
VIPAS39
Duplication
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
VIPAS39
(S487L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
(S485R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
(L484F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
VIPAS39
(A465T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(R380H +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VIPAS39
(D456N +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
(R455W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VIPAS39
(T442S +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(V450I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(F349L +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VIPAS39
(T347A +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VIPAS39
(N439D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(T341M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VIPAS39
(N429S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(I330R +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Insertion
(intron variant)
not provided
GBenign
VIPAS39
Deletion
(intron variant)
not provided
GBenign
VIPAS39
Insertion
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
VIPAS39
(R409P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(H328R +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
(I356V +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VIPAS39
(K400R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(T399I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(W395* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Deletion
(intron variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
VIPAS39
Single nucleotide variant
(splice donor variant +1 more)
Arthrogryposis, renal dysfunction, and cholestasis 1
GPathogenic
VIPAS39
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
(R381* +6 more)
Single nucleotide variant
(nonsense +2 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(T361A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GLikely pathogenic
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GLikely benign
VIPAS39
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
VIPAS39
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
(T286A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VIPAS39
(P332A +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(R244H +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VIPAS39
(R320* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
VIPAS39
(G314R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GLikely benign
VIPAS39
Duplication
(intron variant)
not provided
GBenign
VIPAS39
Duplication
(intron variant)
not provided
GBenign
VIPAS39
Duplication
(intron variant)
not provided
GBenign
VIPAS39
Duplication
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GBenign
VIPAS39
(I223T +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VIPAS39
(I292V +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
VIPAS39
(T295M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VIPAS39
(H244N +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
VIPAS39
(Q291* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
VIPAS39
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
VIPAS39
(A250S +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
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