"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259358	NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)	COL12A1 (G3058S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GBenign
Select item 259356	NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	COL12A1 (R3028H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 475904	NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +2 more	GBenign/Likely benign
Select item 259346	NM_004370.6(COL12A1):c.7698-19_7698-15del	COL12A1	Deletion (intron variant)	Ullrich congenital muscular dystrophy 2 +3 more	GBenign/Likely benign
Select item 1081176	NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=)	COL12A1, LOC126859712	Single nucleotide variant (synonymous variant)	COL12A1-related condition +3 more	GLikely benign
Select item 475889	NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)	COL12A1 (T2197I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 259344	NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)	COL12A1 (E2160V +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GBenign
Select item 259341	NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)	COL12A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259336	NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)	COL12A1 (I1738T +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GBenign
Select item 1170456	NM_004370.6(COL12A1):c.1892-19_1892-18dup	COL12A1	Duplication (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GBenign
Select item 1209915	NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser)	COL12A1 (A373S)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign