"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL8A2"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038139	NM_005202.4(COL8A2):c.*5C>T	COL8A2	Single nucleotide variant (3 prime UTR variant)	COL8A2-related disorder	GLikely benign
Select item 3044090	NM_005202.4(COL8A2):c.*3C>T	COL8A2	Single nucleotide variant (3 prime UTR variant)	COL8A2-related disorder	GLikely benign
Select item 3037037	NM_005202.4(COL8A2):c.1662C>T (p.Ala554=)	COL8A2	Single nucleotide variant (synonymous variant)	COL8A2-related disorder	GLikely benign
Select item 1287683	NM_005202.4(COL8A2):c.1505C>T (p.Thr502Met)	COL8A2 (T437M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3034551	NM_005202.4(COL8A2):c.1069G>C (p.Gly357Arg)	COL8A2 (G292R +1 more)	Single nucleotide variant (missense variant)	COL8A2-related disorder	GLikely benign
Select item 1229188	NM_005202.4(COL8A2):c.1005C>G (p.Leu335=)	COL8A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 785936	NM_005202.4(COL8A2):c.807G>A (p.Val269=)	COL8A2	Single nucleotide variant (synonymous variant)	COL8A2-related disorder +1 more	GBenign/Likely benign
Select item 2632207	NM_005202.4(COL8A2):c.281dup (p.Gly95fs)	COL8A2 (G30fs +1 more)	Duplication (frameshift variant)	COL8A2-related disorder	GUncertain significance
Select item 1601585	NM_005202.4(COL8A2):c.194-7_194-4del	COL8A2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3039011	NM_005202.4(COL8A2):c.30GCT[6] (p.Leu16_Val17insLeu)	COL8A2	Microsatellite (5 prime UTR variant +1 more)	COL8A2-related disorder	GBenign
Select item 2059234	NM_005202.4(COL8A2):c.22C>T (p.Leu8=)	COL8A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign