"Eurofins Ntd Llc (ga)"[submitter] AND "LOC126806573"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596537	NM_004369.4(COL6A3):c.*7G>T	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 94900	NM_004369.4(COL6A3):c.*7G>C	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +2 more	GBenign
Select item 282891	NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)	COL6A3, LOC126806573 (M3175T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 287900	NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg)	COL6A3, LOC126806573 (G3170R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287183	NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)	LOC126806573, COL6A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287031	NM_004369.4(COL6A3):c.9494-5C>T	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285453	NM_004369.4(COL6A3):c.9494-10C>T	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 95022	NM_004369.4(COL6A3):c.9494-26C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 197483	NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)	COL6A3, LOC126806573 (A3163T +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 288878	NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 499886	NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)	COL6A3, LOC126806573 (G3153R +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 283443	NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu)	COL6A3, LOC126806573 (K3151E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287794	NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)	LOC126806573, COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 282654	NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val)	COL6A3, LOC126806573 (F3140V +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 95021	NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 286022	NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)	COL6A3, LOC126806573 (P3132S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 283257	NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)	COL6A3, LOC126806573 (T3120P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 197484	NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)	LOC126806573, COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity