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Items: 1 to 100 of 323

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+387 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+385 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+262 more
Copy number gain
See cases
GPathogenic
ACTG1, ALYREF
+226 more
Copy number loss
See cases
GLikely pathogenic
ALYREF, ANAPC11
+40 more
Copy number loss
See cases
GBenign
LOC130062008, LOC130062009
+95 more
Copy number gain
See cases
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa
GUncertain significance
PYCR1
(R313Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
PYCR1-related disorder
GUncertain significance
PYCR1
(Q308H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
+1 more
GUncertain significance
PYCR1
(G297R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
GUncertain significance
PYCR1
Deletion
(3 prime UTR variant +1 more)
Cutis laxa, recessive
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
PYCR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa
GUncertain significance
PYCR1
(G344S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PYCR1
(A343V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
(S339R +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PYCR1
(R280H +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
(R280C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
(R280S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
(L277V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
(P271L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
(S301L +2 more)
Inversion
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
Variation
(no sequence alteration +1 more)
not provided
GBenign
PYCR1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive cutis laxa type 2B
+2 more
GBenign
PYCR1
(S301L +2 more)
Single nucleotide variant
(missense variant +2 more)
Cutis laxa
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign/Likely benign
PYCR1
(A326T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
PYCR1
(T325S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PYCR1
(L292P +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR1
(K289R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PYCR1
(D315E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(L314M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(I255T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR1
(Q243* +2 more)
Single nucleotide variant
(nonsense +1 more)
not specified
+1 more
GUncertain significance
PYCR1
(H216Y)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR1
(A213V)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PYCR1
(G212R)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
PYCR1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PYCR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GBenign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GBenign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GBenign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Deletion
(intron variant)
not provided
GBenign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PYCR1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PYCR1
Deletion
(splice donor variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
Single nucleotide variant
(splice donor variant +1 more)
not provided
GConflicting classifications of pathogenicity
PYCR1
(R266Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa
+3 more
GPathogenic
PYCR1
(R291C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PYCR1
(I263T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(C262Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(A229P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PYCR1
(V227L +2 more)
Single nucleotide variant
(missense variant +1 more)
Wiedemann-Rautenstrauch-like progeroid syndrome
GLikely pathogenic
PYCR1
(A226V +2 more)
Single nucleotide variant
(missense variant +1 more)
PYCR1-related de Barsy syndrome
GUncertain significance
PYCR1
(A257T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PYCR1
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa
+1 more
GConflicting classifications of pathogenicity
PYCR1
(S221F +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
+1 more
GConflicting classifications of pathogenicity
PYCR1
(R278L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(R251H +2 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa
+2 more
GPathogenic/Likely pathogenic
PYCR1
(R220C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PYCR1
(F277S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(G248E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PYCR1
(V213A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR1
(H212R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
(A268D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
(A210V +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
(H209R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYCR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PYCR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PYCR1
(P234L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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