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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
(Q23*)
Single nucleotide variant
(nonsense)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+4 more
Gnot provided
COL1A2
(G60D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, cardiac valvular type
GUncertain significance
COL1A2
(G802fs)
Insertion
(frameshift variant)
Ehlers-Danlos syndrome, cardiac valvular type
GLikely pathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, cardiac valvular type
+5 more
GLikely pathogenic
COL1A2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GLikely benign
COL1A2
(Q114R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(G919S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
COL1A1
(R1356H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL1A2
(R948C)
Single nucleotide variant
(missense variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+8 more
GUncertain significance
COL1A2
(R882H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL1A2
(P123H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(G448R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+7 more
GPathogenic/Likely pathogenic
COL1A2
(G376V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GPathogenic
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+3 more
GConflicting classifications of pathogenicity
COL1A2
(R224H)
Single nucleotide variant
(missense variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+9 more
GConflicting classifications of pathogenicity
COL1A2
(C18R)
Single nucleotide variant
(missense variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+8 more
GUncertain significance
COL1A2
(R948H)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+10 more
GUncertain significance
COL1A2
(G328S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+8 more
GPathogenic
COL1A2
(I954T)
Single nucleotide variant
(missense variant)
Osteoporosis
+12 more
GBenign/Likely benign
COL1A2
(G358S)
Single nucleotide variant
(missense variant)
Osteoporosis
+9 more
GPathogenic
COL1A2
(G646V)
Single nucleotide variant
(missense variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+7 more
GPathogenic/Likely pathogenic
COL1A2
(M96V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, cardiac valvular type
+11 more
GUncertain significance
COL1A2
(R693Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+13 more
GBenign/Likely benign
COL1A2
(R714C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GUncertain significance
COL1A2
(N1285H)
Single nucleotide variant
(missense variant)
Postmenopausal osteoporosis
+12 more
GConflicting classifications of pathogenicity
COL1A2
(V270I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GBenign/Likely benign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+7 more
GBenign/Likely benign
COL1A2
(P1016H)
Single nucleotide variant
(missense variant)
not provided
+11 more
GConflicting classifications of pathogenicity
COL1A2
(G1012S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, perinatal lethal
+8 more
GPathogenic/Likely pathogenic
COL1A2
Single nucleotide variant
(synonymous variant)
not provided
+13 more
GBenign/Likely benign
COL1A2
(R432Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+11 more
GBenign/Likely benign
COL1A2
Duplication
(frameshift variant)
Ehlers-Danlos syndrome, cardiac valvular type
GPathogenic
COL1A2
(E1201*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, cardiac valvular type
GPathogenic
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, cardiac valvular type
GPathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome
GLikely pathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, cardiac valvular type
GPathogenic
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, cardiac valvular type
GPathogenic
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