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Links from MedGen

Items: 1 to 100 of 321

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A1
(G1350A)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
(G723R)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(G1225V)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
Deletion
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(P1280fs)
Deletion
(frameshift variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
Single nucleotide variant
(splice donor variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
Deletion
(splice donor variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
(G740R)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(P159S)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
(R666*)
Single nucleotide variant
(nonsense)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(G525R)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(G489S)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
Single nucleotide variant
(splice donor variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(G115S)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+4 more
GConflicting classifications of pathogenicity
COL4A1
(G531R)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(V1312I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A1
(A650fs)
Deletion
(frameshift variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GPathogenic
COL4A1
(G1341fs)
Duplication
(frameshift variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GPathogenic
COL4A1
(N1517S)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
(G906A)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
Deletion
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(F1642Y)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
(R1238H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Duplication
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
not specified
+6 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Retinal arterial tortuosity
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Deletion
(intron variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
+5 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GLikely benign
COL4A1, LOC126861856
Microsatellite
(intron variant)
not provided
+5 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(synonymous variant)
COL4A1-related disorder
+6 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(intron variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GLikely benign
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
(M1092V)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(G168R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
COL4A1
(R1668del)
Microsatellite
(inframe_deletion)
not provided
+5 more
GUncertain significance
COL4A1
(S300R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
COL4A1
(P485L)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GUncertain significance
COL4A1
(R1619H)
Single nucleotide variant
(missense variant)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
+5 more
GUncertain significance
COL4A1, LOC126861856
Single nucleotide variant
(synonymous variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GConflicting classifications of pathogenicity
COL4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GLikely benign
COL4A1
(I772F)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
+5 more
GUncertain significance
COL4A1, LOC126861856
(E456K)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
+5 more
GUncertain significance
COL4A1
(D616G)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(R1063*)
Single nucleotide variant
(nonsense)
COL4A1-related disorder
+6 more
GPathogenic/Likely pathogenic
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL4A1
(A558T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
COL4A1
(E1048D)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
Single nucleotide variant
(synonymous variant)
Brain small vessel disease 1 with or without ocular anomalies
+5 more
GUncertain significance
COL4A1
(Q728R)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(P629A)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
Single nucleotide variant
(intron variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(P739L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL4A1
(P902L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
COL4A1
Single nucleotide variant
(intron variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(R538W)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(P1054L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
COL4A1
(Q1453*)
Single nucleotide variant
(nonsense)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GLikely pathogenic
COL4A1
(G501D)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+1 more
GPathogenic/Likely pathogenic
COL4A1
(P1075S)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GUncertain significance
COL4A1
(P734R)
Single nucleotide variant
(missense variant)
Retinal arterial tortuosity
+5 more
GUncertain significance
COL4A1
(P694S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
COL4A1
(R1656C)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GUncertain significance
COL4A1
(R1063Q)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GUncertain significance
COL4A1
Duplication
(intron variant)
Hemorrhage, intracerebral, susceptibility to
+5 more
GLikely benign
COL4A1
(P178S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KAT6B
(Y1117* +7 more)
Single nucleotide variant
(nonsense)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+4 more
GPathogenic
COL4A1
Single nucleotide variant
(splice acceptor variant)
not provided
+5 more
GPathogenic/Likely pathogenic
COL4A1
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign/Likely benign
COL4A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
COL4A1
(R585H)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+6 more
GConflicting classifications of pathogenicity
COL4A1
(G568C)
Single nucleotide variant
(missense variant)
COL4A1 or COL4A2-related cerebral small vessel disease
+6 more
GLikely pathogenic
COL4A1
(A144T)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+5 more
GUncertain significance
COL4A1
(D1333N)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
+6 more
GConflicting classifications of pathogenicity
COL4A1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
COL4A1
(K573Q)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
(G1136S)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GUncertain significance
COL4A1
(S759R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
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