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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRELD1
(P393fs +1 more)
Deletion
(intron variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(R107C)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(E78D)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GLikely benign
CRELD1
(R369H +1 more)
Single nucleotide variant
(missense variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(C221R)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(P144A)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(C264R +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(D277N +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(R204H)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(V352I)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(intron variant)
CRELD1-related condition
+1 more
GLikely benign
CRELD1
(G189S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(P258R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GBenign/Likely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
CRELD1-related condition
+1 more
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(G189fs)
Deletion
(frameshift variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(I27S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(N205D)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(T410M +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GUncertain significance
CRELD1
(G188R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CRELD1
(Q382E +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(R408H +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(H375Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GUncertain significance
CRELD1
(E306K +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(G327S +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
ARPC4, ARPC4-TTLL3
+38 more
Duplication
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(K233N)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GConflicting classifications of pathogenicity
CRELD1
(R220Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CRELD1
(M13V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
FANCD2OS, FANCD2
+5 more
Deletion
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(A397T +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(K242N)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GUncertain significance
CRELD1
(P154S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(E284fs +1 more)
Microsatellite
(frameshift variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(Y269C)
Single nucleotide variant
(missense variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(R220*)
Single nucleotide variant
(nonsense +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(P360fs +1 more)
Deletion
(frameshift variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(S32F)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(E266fs)
Duplication
(frameshift variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
ARPC4, ARPC4-TTLL3
+13 more
Duplication
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(E312K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
CRELD1
(S212L)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GUncertain significance
CRELD1
(M282I +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(A275fs +1 more)
Microsatellite
(frameshift variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely pathogenic
CRELD1
(M379R +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GUncertain significance
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CRELD1
(Q320fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GUncertain significance
CRELD1
(T387I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
CRELD1
(R175Q)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(R175*)
Single nucleotide variant
(nonsense +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(R89H)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(Q405E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GLikely benign
CRELD1
(N72S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CRELD1
(A206T)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GBenign
CRELD1
Single nucleotide variant
(intron variant)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GLikely benign
CRELD1
(R383T +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(T375A +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
CRELD1
(C192Y)
Single nucleotide variant
(missense variant +1 more)
CRELD1-related condition
+2 more
GUncertain significance
CRELD1
(P128R)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
+1 more
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
CRELD1
Single nucleotide variant
(no sequence alteration +1 more)
not specified
+1 more
GBenign
CRELD1
(M379T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
CRELD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
CRELD1
(E414K +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Atrioventricular septal defect, susceptibility to, 2
Grisk factor
CRELD1
(P162A)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect, susceptibility to, 2
Grisk factor
CRELD1
(R107H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CRELD1
(T311I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
CRELD1
(R329C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
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