C0410179[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441647	NM_004369.4(COL6A3):c.9175del (p.Val3059fs)	COL6A3 (V2452fs +2 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 635080	NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)	COL6A3 (R2444W +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +1 more	GUncertain significance
Select item 2441705	NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)	COL6A3 (R1547* +4 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 94956	NM_004369.4(COL6A3):c.6210+1G>A	COL6A3	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 1A +2 more	GPathogenic
Select item 1028739	NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)	COL6A3 (R1299L +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 284121	NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)	COL6A3 (V1067M +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 1032774	NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp)	COL6A1 (R27W)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 93894	NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	COL6A1	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +4 more	GPathogenic
Select item 542998	NM_001848.3(COL6A1):c.930+189C>T	COL6A1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 1027969	NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr)	COL6A1 (S675T)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 285997	NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	COL6A1 (P716L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 1027970	NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr)	COL6A1 (H1018Y)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 744109	NM_001849.4(COL6A2):c.201C>T (p.Leu67=)	COL6A2	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 1A +1 more	GConflicting classifications of pathogenicity
Select item 569036	NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)	COL6A2 (G371S)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +2 more	GConflicting classifications of pathogenicity
Select item 162534	NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)	COL6A2 (R489W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 280693	NM_001849.4(COL6A2):c.2422+1G>A	COL6A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1029383	NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)	COL6A2 (Q852*)	Single nucleotide variant (nonsense +2 more)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 285718	NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)	COL6A2 (V929M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity