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Links from MedGen

Items: 1 to 100 of 2191

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRSS1, TRB
Deletion
(intron variant)
Hereditary pancreatitis
GUncertain significance
EPHB6, TRPV6
(R390C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(E92fs)
Duplication
(frameshift variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(G136S)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
Single nucleotide variant
(synonymous variant +1 more)
Hereditary pancreatitis
GLikely benign
CTRC
(W164R)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Insertion
(inframe_insertion)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(splice acceptor variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(G242D)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely pathogenic
CTRC
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GUncertain significance
SPINK1
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(A36S)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
PRSS1, TRB
Duplication
(inframe_insertion +1 more)
Hereditary pancreatitis
GUncertain significance
SPINK1
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
(S99T)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(I69V)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
(W160*)
Single nucleotide variant
(nonsense)
Hereditary pancreatitis
GConflicting classifications of pathogenicity
PRSS1, TRB
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
Deletion
Hereditary pancreatitis
GUncertain significance
SPINK1
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
PRSS1, TRB
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
(N166S)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(R95S)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
SPINK1
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CTRC
(W261*)
Single nucleotide variant
(nonsense)
Hereditary pancreatitis
GUncertain significance
CTRC
(I122T)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
PRSS1, TRB
(Q209E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary pancreatitis
GBenign
PRSS1, TRB
(A163V)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
(D146fs)
Deletion
(frameshift variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(P219L)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
SPINK1
(I6F)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
SPINK1
(E57G)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(Q86P)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(G83E)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
SPINK1
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
CTRC
(R80Q)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(A117G)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
PRSS1, TRB
(F184S)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GLikely benign
PRSS1, TRB
(N207H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary pancreatitis
GUncertain significance
SPINK1
(L8P)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(S16I)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CFTR, LOC113633877
Single nucleotide variant
(intron variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(M1R)
Single nucleotide variant
(missense variant +2 more)
Hereditary pancreatitis
+1 more
GUncertain significance
SPINK1
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
SPINK1
(A11V)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
SPINK1
(T53A)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
SPINK1
(S18P)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CTRC
(S236T)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(W43*)
Single nucleotide variant
(nonsense)
Hereditary pancreatitis
GLikely pathogenic
CTRC
(L148Q)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(N114S)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CTRC
(G3D)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(E230K)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(A123V)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(W164S)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(L127F)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CTRC
(A85P)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(R195T)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(V201E)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(5 prime UTR variant)
Hereditary pancreatitis
GUncertain significance
CPA1
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CPA1
(T239I)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
CPA1
(T151A)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(S307I)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(L134M)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(Y369H)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(W257C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(L217P)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(I178L)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(S241C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(G225V)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(I172V)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(N106K)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(G187D)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(E157G)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
CTRC
(W164C)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
(H110Q)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CTRC
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
GLikely benign
PRSS1, TRB
(P97H)
Single nucleotide variant
(missense variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
(V214I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary pancreatitis
GUncertain significance
PRSS1, TRB
Single nucleotide variant
(synonymous variant +1 more)
Hereditary pancreatitis
GLikely benign
CPA1
(P315L)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
CPA1
(G3V)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
GUncertain significance
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