C0410179[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665548	NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)	COL6A3 (V657M +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 285594	NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)	COL6A3 (V1040I +3 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 499099	NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	COL6A3 (A769V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 949905	NM_004370.6(COL12A1):c.8319+1G>C	COL12A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic
Select item 1005304	NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	COL12A1 (R486W)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 543025	NM_001848.3(COL6A1):c.1002+6_1002+88del	COL6A1	Deletion (splice donor variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 840759	NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)	COL6A1 (R574Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194621	NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	COL6A2 (D446N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1053785	NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)	COL6A2 (V951F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 657581	NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)	COL6A2 (R993C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity