"GeneDx"[submitter] AND "COL8A2"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497929	NM_005202.4(COL8A2):c.*90C>A	COL8A2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1328777	NM_005202.4(COL8A2):c.*13dup	COL8A2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1238973	NM_005202.4(COL8A2):c.*12G>T	COL8A2	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy, Fuchs endothelial, 1 +2 more	GBenign
Select item 1258933	NM_005202.4(COL8A2):c.1758C>T (p.Pro586=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771113	NM_005202.4(COL8A2):c.1746C>T (p.Thr582=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1287683	NM_005202.4(COL8A2):c.1505C>T (p.Thr502Met)	COL8A2 (T437M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1230934	NM_005202.4(COL8A2):c.1485G>A (p.Gly495=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1186921	NM_005202.4(COL8A2):c.1137T>C (p.Gly379=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1229188	NM_005202.4(COL8A2):c.1005C>G (p.Leu335=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785936	NM_005202.4(COL8A2):c.807G>A (p.Val269=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1248559	NM_005202.4(COL8A2):c.464G>A (p.Arg155Gln)	COL8A2 (R155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1233636	NM_005202.4(COL8A2):c.194-87C>T	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249796	NM_005202.4(COL8A2):c.194-274A>G	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296628	NM_005202.4(COL8A2):c.193+186G>A	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243231	NM_005202.4(COL8A2):c.193+67G>C	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255398	NM_005202.4(COL8A2):c.193+34C>T	COL8A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1249552	NM_005202.4(COL8A2):c.105G>A (p.Ala35=)	COL8A2, LOC129930125	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3373523	NM_005202.4(COL8A2):c.55G>A (p.Val19Met)	COL8A2, LOC129930125 (V19M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1234641	NM_005202.4(COL8A2):c.-16-140T>C	COL8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187515	NM_005202.4(COL8A2):c.-16-275T>C	COL8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 20