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Links from Gene

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDSN, PSORS1C1
(C423S)
Single nucleotide variant
(missense variant +1 more)
CDSN-related disorder
GUncertain significance
CDSN, PSORS1C1
(S212N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CDSN, PSORS1C1
(G249D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(P508T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(Y313N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(G237S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(S365L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(G64A)
Indel
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDSN, PSORS1C1
(P282T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(G127S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(S314T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(G335A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
(I286T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(S195fs)
Deletion
(frameshift variant +1 more)
CDSN-related disorder
GLikely pathogenic
CDSN, PSORS1C1
(S274N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(S437F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(S440R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(P471L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDSN, PSORS1C1
(Q215K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(Q162*)
Single nucleotide variant
(nonsense +1 more)
Peeling skin syndrome 1
GLikely pathogenic
CDSN, PSORS1C1
(A481T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(S150N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(P226S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(G263R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(R184C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(G429V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(M9L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(P511L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
(P192L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
(V506M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDSN, PSORS1C1
(S152G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(R11H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(G36S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
(R500W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(N527fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(S455fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
(A481S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(I35L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(S153del)
Deletion
(inframe_deletion +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(L410S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(S401G)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(L509P)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
(N143S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(S123C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(S159G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDSN, PSORS1C1
(G130R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(G482S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
(L56F)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
CDSN, PSORS1C1
(G523R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDSN, PSORS1C1
Microsatellite
(no sequence alteration +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
(M18L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(S408A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(G409V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(F202S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(N527D)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
+1 more
GBenign
CDSN, PSORS1C1
(S80N)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
GUncertain significance
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(S92F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(D290E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDSN, PSORS1C1
(P447L)
Single nucleotide variant
(missense variant +1 more)
Hypotrichosis 2
+2 more
GUncertain significance
CDSN, PSORS1C1
(S453N)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
+1 more
GBenign
CDSN, PSORS1C1
(G487S)
Single nucleotide variant
(missense variant +1 more)
Peeling skin syndrome 1
GLikely pathogenic
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDSN, PSORS1C1
(S434R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
CDSN, PSORS1C1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDSN, PSORS1C1
Variation
(no sequence alteration +1 more)
not provided
GBenign
CDSN, PSORS1C1
Variation
(no sequence alteration +1 more)
not provided
GBenign
CDSN, PSORS1C1
Variation
(no sequence alteration +1 more)
not provided
GBenign
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