ClinVar for MedGen (Select 1826071) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805720	NM_001846.4(COL4A2):c.4448G>A (p.Gly1483Asp)	COL4A2, COL4A2-AS1 (G1483D)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease	GUncertain significance
Select item 1805373	NM_001845.6(COL4A1):c.4777G>A (p.Gly1593Ser)	COL4A1 (G1593S)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease	GUncertain significance
Select item 1805313	NM_001845.6(COL4A1):c.2626G>C (p.Gly876Arg)	COL4A1 (G876R)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease	GPathogenic
Select item 1699317	NM_001845.6(COL4A1):c.1238C>T (p.Pro413Leu)	COL4A1 (P413L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699178	NM_001845.6(COL4A1):c.94G>A (p.Ala32Thr)	COL4A1 (A32T)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease	GUncertain significance
Select item 1489793	NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His)	COL4A1 (Y1475H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1453677	NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)	COL4A1 (G1198R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1179197	NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)	COL4A1 (G568C)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +6 more	GLikely pathogenic
Select item 546730	NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu)	COL4A1 (P1647L)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease +1 more	GUncertain significance
Select item 521435	NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	COL4A1 (R1661C)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease +3 more	GConflicting classifications of pathogenicity