ClinVar for MedGen (Select 1053519) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324139	NM_001849.4(COL6A2):c.1521+1G>A	COL6A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 565700	NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	COL6A2 (R468*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 476452	NM_001849.4(COL6A2):c.1459-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GPathogenic
Select item 287891	NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)	COL6A2 (R521Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 285450	NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)	COL6A2 (D500H)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1B +2 more	GUncertain significance
Select item 283995	NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)	COL6A2 (F914del)	Deletion (inframe_deletion)	Ullrich congenital muscular dystrophy 1A +3 more	GUncertain significance
Select item 265506	NM_001849.4(COL6A2):c.1970-9G>A	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +11 more	GConflicting classifications of pathogenicity
Select item 36917	NM_001849.4(COL6A2):c.1771-1G>T	COL6A2	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 36916	NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del)	COL6A2	Deletion (inframe_deletion)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 29641	NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser)	COL6A2 (R876S)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 29640	NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys)	COL6A2 (E624K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 17168	NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)	COL6A2 (R498H)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 17167	NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)	COL6A2 (G283R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17166	NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	COL6A2 (C777R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 17162	NM_001849.4(COL6A2):c.801+631_882del	COL6A2	Deletion (splice acceptor variant +1 more)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 17161	NM_001849.4(COL6A2):c.1117-10A>G	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 17160	NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)	COL6A2 (R498fs)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 17158	NM_001849.4(COL6A2):c.1771-1G>A	COL6A2	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1B	GPathogenic
Select item 17156	NM_001849.4(COL6A2):c.1151dup (p.Glu386fs)	COL6A2 (E386fs)	Duplication (frameshift variant)	Ullrich congenital muscular dystrophy 1B	GPathogenic