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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061991, PYCR1
(V8L)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cutis laxa type 2B
GUncertain significance
PYCR1
(D186Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GLikely pathogenic
PYCR1
Single nucleotide variant
(splice donor variant)
Autosomal recessive cutis laxa type 2B
GLikely pathogenic
PYCR1
(R291C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PYCR1
Single nucleotide variant
(intron variant)
Autosomal recessive cutis laxa type 2B
+1 more
GBenign
PYCR1
(R143G +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cutis laxa type 2B
GUncertain significance
PYCR1
(H212R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
Single nucleotide variant
(splice donor variant)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
(R220C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PYCR1
(S221F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PYCR1
(I101fs +1 more)
Microsatellite
(frameshift variant)
Autosomal recessive cutis laxa type 2B
GLikely pathogenic
PYCR1
(A187T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
+2 more
GConflicting classifications of pathogenicity
PYCR1
(V197I +1 more)
Single nucleotide variant
(missense variant)
PYCR1-related de Barsy syndrome
+4 more
GUncertain significance
PYCR1
(D186G +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GLikely pathogenic
PYCR1
(K289R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PYCR1
(A210V +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
Single nucleotide variant
(splice donor variant)
Autosomal recessive cutis laxa type 2B
+2 more
GPathogenic
PYCR1
(G31V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
PYCR1
(A21fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
PYCR1
(R119C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PYCR1
(A179T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cutis laxa type 2B
+2 more
GPathogenic/Likely pathogenic
PYCR1
Deletion
(intron variant)
PYCR1-related disorder
+4 more
GBenign/Likely benign
PYCR1
(R112W +1 more)
Single nucleotide variant
(missense variant)
Cutis laxa
+3 more
GConflicting classifications of pathogenicity
PYCR1
(G206R +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of connective tissue
+2 more
GPathogenic/Likely pathogenic
PYCR1
(R119H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PYCR1
(R119G +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
(G31fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
Deletion
(splice donor variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
Deletion
(intron variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
(G206W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive cutis laxa type 2B
GPathogenic
PYCR1
(R266Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
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