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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELN
(T300S +6 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
COL5A1
(G203V)
Single nucleotide variant
(missense variant)
Inguinal hernia
+12 more
GLikely pathogenic
COL5A1
(P968fs)
Deletion
(frameshift variant)
Cutis laxa
+9 more
GLikely pathogenic
Translocation
Clinodactyly of the 5th finger
+14 more
GLikely pathogenic
Complex
Ventricular septal defect
+15 more
GUncertain significance
COL1A1
(R312C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+12 more
GPathogenic/Likely pathogenic
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