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Links from MedGen

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAP
(R232H)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+4 more
GUncertain significance
PSAP
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
GPathogenic
PSAP
Single nucleotide variant
(intron variant)
Combined PSAP deficiency
+3 more
GBenign
PSAP
Single nucleotide variant
Combined PSAP deficiency
+3 more
GBenign/Likely benign
PSAP
(V398I +2 more)
Single nucleotide variant
(missense variant)
Sphingolipid activator protein 1 deficiency
+4 more
GUncertain significance
PSAP
(K23E)
Single nucleotide variant
(missense variant)
Gaucher disease due to saposin C deficiency
+4 more
GUncertain significance
PSAP
(R127C)
Single nucleotide variant
(missense variant)
Gaucher disease due to saposin C deficiency
+5 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Sphingolipid activator protein 1 deficiency
+3 more
GUncertain significance
PSAP
(S140F)
Single nucleotide variant
(missense variant)
Gaucher disease due to saposin C deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(synonymous variant)
Gaucher disease due to saposin C deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
(P170A)
Single nucleotide variant
(missense variant)
Sphingolipid activator protein 1 deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(synonymous variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Sphingolipid activator protein 1 deficiency
+5 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Sphingolipid activator protein 1 deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(intron variant)
Gaucher disease due to saposin C deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
(P189S)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(3 prime UTR variant)
Sphingolipid activator protein 1 deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease due to saposin C deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease due to saposin C deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
+2 more
GBenign/Likely benign
PSAP
(K227del)
Deletion
(inframe_deletion)
Gaucher disease due to saposin C deficiency
+6 more
GPathogenic/Likely pathogenic
PSAP
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
PSAP
(I86N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
PSAP
(E460* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease due to saposin C deficiency
+3 more
GPathogenic
PSAP
Single nucleotide variant
(5 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GLikely benign
PSAP
Single nucleotide variant
(5 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(intron variant)
Gaucher disease due to saposin C deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(intron variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Krabbe disease due to saposin A deficiency
+3 more
GBenign
PSAP
(A30S)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
(W32G)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
+3 more
GUncertain significance
PSAP
(T38S)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(intron variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Combined PSAP deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Krabbe disease due to saposin A deficiency
+5 more
GBenign/Likely benign
PSAP
(M76K)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(intron variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Krabbe disease due to saposin A deficiency
+3 more
GBenign/Likely benign
PSAP
(R127H)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
(R186H)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
(Q190H)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+5 more
GBenign/Likely benign
PSAP
Single nucleotide variant
(intron variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Krabbe disease due to saposin A deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Gaucher disease due to saposin C deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
(K307R +2 more)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
(P308L +2 more)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
+3 more
GUncertain significance
PSAP
(T334S +2 more)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
(I341V +2 more)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Combined PSAP deficiency
+6 more
GConflicting classifications of pathogenicity
PSAP
(T363M +2 more)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
(T394M +2 more)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+5 more
GConflicting classifications of pathogenicity
PSAP
(R421C +2 more)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Combined PSAP deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(intron variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
PSAP
(H486Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Gaucher disease due to saposin C deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease due to saposin C deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
PSAP
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+3 more
GUncertain significance
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Nonsyndromic Hearing Loss, Recessive
+6 more
GBenign/Likely benign
PSAP
Single nucleotide variant
(3 prime UTR variant)
Combined PSAP deficiency
+3 more
GUncertain significance
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+8 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Krabbe disease due to saposin A deficiency
+9 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
PSAP
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PSAP
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
CDH23, PSAP
Single nucleotide variant
(intron variant)
not specified
+10 more
GBenign/Likely benign
PSAP
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
PSAP
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign
PSAP
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GBenign
CDH23, PSAP
Single nucleotide variant
(intron variant)
not specified
+9 more
GBenign/Likely benign
PSAP
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
PSAP
(V70del)
Deletion
(inframe_deletion)
Sphingolipid activator protein 1 deficiency
GUncertain significance
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