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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A1
(G1580R)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
GPathogenic
COL4A1
(G1423R)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
GPathogenic
COL4A1
(G1236R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL4A1
(G1130D)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
GPathogenic
COL4A1
(G749S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL4A1
(G720D)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
+1 more
GPathogenic/Likely pathogenic
COL4A1
(G590E)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
Gnot provided
COL4A1
(G528E)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GPathogenic
COL4A1
(G519R)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GPathogenic
COL4A1
(G498V)
Single nucleotide variant
(missense variant)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GPathogenic
COL4A1
(M1L)
Single nucleotide variant
(missense variant +1 more)
Brain small vessel disease 1 with or without ocular anomalies
GPathogenic
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