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Links from MedGen

Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAP
(L118P)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
GUncertain significance
CDH23, PSAP
(Y447* +2 more)
Single nucleotide variant
(nonsense)
Combined PSAP deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(splice donor variant)
Combined PSAP deficiency
GPathogenic
PSAP
(R232H)
Single nucleotide variant
(missense variant)
Krabbe disease due to saposin A deficiency
+4 more
GUncertain significance
PSAP
(V295G +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease 24, autosomal dominant, susceptibility to
+2 more
GUncertain significance
PSAP
(P353L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PSAP
(L233R)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
GLikely pathogenic
PSAP
Deletion
(splice acceptor variant)
Combined PSAP deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(intron variant)
Combined PSAP deficiency
+3 more
GBenign
PSAP
Single nucleotide variant
not provided
+3 more
GBenign/Likely benign
PSAP
(L4P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PSAP
(T38M)
Single nucleotide variant
(missense variant)
Combined PSAP deficiency
+1 more
GUncertain significance
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)
Inborn genetic diseases
+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)
Combined PSAP 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)
Autosomal recessive nonsyndromic hearing loss 12
+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)
Sphingolipid activator protein 1 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
(L10F)
Single nucleotide variant
(missense variant)
not provided
+2 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)
Metachromatic leukodystrophy
+6 more
GPathogenic/Likely pathogenic
PSAP
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
PSAP
(E460* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease due to saposin C deficiency
+3 more
GPathogenic
PSAP
(L137V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+3 more
GLikely benign
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Atypical Gaucher Disease
+5 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Atypical Gaucher Disease
+5 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Atypical Gaucher Disease
+5 more
GConflicting classifications of pathogenicity
CDH23, PSAP
(R3328H +4 more)
Single nucleotide variant
(missense variant)
Atypical Gaucher Disease
+7 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+3 more
GUncertain significance
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+4 more
GBenign/Likely benign
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+3 more
GUncertain significance
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+3 more
GUncertain significance
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+3 more
GUncertain significance
PSAP
Single nucleotide variant
Atypical Gaucher Disease
+3 more
GLikely benign
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)
Combined PSAP deficiency
+3 more
GBenign
PSAP
(A30S)
Single nucleotide variant
(missense variant)
Combined PSAP 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
(P56R)
Single nucleotide variant
(missense variant)
Atypical Gaucher Disease
+4 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)
Gaucher disease due to saposin C deficiency
+4 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Gaucher disease due to saposin C deficiency
+4 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)
Combined PSAP deficiency
+3 more
GConflicting classifications of pathogenicity
PSAP
Single nucleotide variant
(synonymous variant)
Gaucher disease due to saposin C 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)
Gaucher disease due to saposin C 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)
Gaucher disease due to saposin C 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)
Atypical Gaucher Disease
+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
(D423N +2 more)
Single nucleotide variant
(missense variant)
Atypical Gaucher Disease
+3 more
GUncertain significance
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)
Combined PSAP 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
Deletion
(3 prime UTR variant)
Nonsyndromic Hearing Loss, Recessive
+6 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Atypical Gaucher Disease
+7 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Atypical Gaucher Disease
+8 more
GBenign/Likely benign
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease due to saposin C deficiency
+7 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(3 prime UTR variant)
CDH23-Related Disorders
+8 more
GConflicting classifications of pathogenicity
PSAP, CDH23
Single nucleotide variant
(3 prime UTR variant)
Atypical Gaucher Disease
+8 more
GConflicting classifications of pathogenicity
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