U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRSS12
(R468*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(P38L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R501*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 1
GLikely pathogenic
PRSS12
(E120A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(G640R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R757fs)
Indel
(frameshift variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(W148fs)
Deletion
Intellectual disability, autosomal recessive 1
GLikely pathogenic
PRSS12
Single nucleotide variant
(splice acceptor variant)
not specified
+1 more
GUncertain significance
PRSS12
(V304I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(T85K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(D413G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
+1 more
GConflicting classifications of pathogenicity
PRSS12
(A79P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PRSS12
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(P41S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R173H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(G175D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(H297R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(D306N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(E717Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
+1 more
GUncertain significance
PRSS12
(Y725H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(I727V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(G835R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(D306E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R399C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GBenign
PRSS12
Single nucleotide variant
(5 prime UTR variant)
Intellectual disability, autosomal recessive 1
GLikely benign
PRSS12
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R461G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(G92R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(S122L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(K635E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R658S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(L659F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(S684G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GBenign
PRSS12
(P147L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
+1 more
GBenign/Likely benign
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
+1 more
GConflicting classifications of pathogenicity
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PRSS12
(R627W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(Q261*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(C465*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(M830fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRSS12
(L10V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PRSS12
(G13R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PRSS12
(Q710fs)
Duplication
(frameshift variant)
not specified
+1 more
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PRSS12
(T685I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(W160C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R171*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R426Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(A547D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(F678L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
+1 more
GBenign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GBenign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
Format
Items per page
Sort by
Choose Destination