"Invitae"[submitter] AND "LOC126806573"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543036	NC_000002.11:g.(?_237481970)_(238305480_?)dup	ACKR3, COL6A3 +12 more	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 1434041	NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro)	COL6A3, LOC126806573 (T2971P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 282891	NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)	COL6A3, LOC126806573 (M3175T +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 3014975	NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)	COL6A3, LOC126806573 (M2975L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
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 1564625	NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 848577	NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)	COL6A3, LOC126806573 (A2560T +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=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	COL6A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1899178	NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)	COL6A3, LOC126806573 (V2558G +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 576775	NM_004369.4(COL6A3):c.9494-2A>G	COL6A3, LOC126806573	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 287031	NM_004369.4(COL6A3):c.9494-5C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1809778	NM_004369.4(COL6A3):c.9494-6G>A	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 702445	NM_004369.4(COL6A3):c.9494-6G>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 515415	NM_004369.4(COL6A3):c.9494-7C>T	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2200531	NM_004369.4(COL6A3):c.9494-9G>A	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2159674	NM_004369.4(COL6A3):c.9494-15TC[2]	COL6A3, LOC126806573	Microsatellite (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 285453	NM_004369.4(COL6A3):c.9494-10C>T	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1596685	NM_004369.4(COL6A3):c.9494-12C>G	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2073806	NM_004369.4(COL6A3):c.9494-16C>G	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2037598	NM_004369.4(COL6A3):c.9494-17C>A	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1945854	NM_004369.4(COL6A3):c.9493+16T>C	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2140673	NM_004369.4(COL6A3):c.9493+14C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1638602	NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1551284	NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 945552	NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)	COL6A3, LOC126806573 (A3163P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 197483	NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)	COL6A3, LOC126806573 (A3163T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 779514	NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2749809	NM_004369.4(COL6A3):c.9481del (p.Val3161fs)	COL6A3, LOC126806573 (V2955fs +2 more)	Deletion (frameshift variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2696053	NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1999370	NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)	COL6A3, LOC126806573 (E3159fs +2 more)	Duplication (frameshift variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2109289	NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)	COL6A3, LOC126806573 (Q2949H +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 288878	NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450484	NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val)	COL6A3, LOC126806573 (G3153V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499886	NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)	COL6A3, LOC126806573 (G3153R +2 more)	Single nucleotide variant (missense variant)	not provided +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 2710004	NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)	COL6A3, LOC126806573 (N2543K +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2720365	NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)	COL6A3, LOC126806573 (N2950S +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 430200	NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys)	COL6A3, LOC126806573 (E3149K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 287794	NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2191568	NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1655616	NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 282654	NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val)	LOC126806573, COL6A3 (F3140V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 940006	NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 971277	NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys)	COL6A3, LOC126806573 (R3139K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 95021	NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 542989	NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn)	COL6A3, LOC126806573 (S3136N +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2694721	NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)	COL6A3, LOC126806573 (T2928I +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1005356	NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser)	COL6A3, LOC126806573 (N2526S +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 286022	NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)	COL6A3, LOC126806573 (P3132S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2819387	NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)	COL6A3, LOC126806573 (D2964N +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1452162	NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)	COL6A3, LOC126806573 (W2922* +2 more)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A	GPathogenic
Select item 639997	NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg)	LOC126806573, COL6A3 (K2520R +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 576937	NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr)	COL6A3, LOC126806573 (I3125T +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 1943874	NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)	COL6A3, LOC126806573 (T3120A +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 283257	NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)	COL6A3, LOC126806573 (T3120P +2 more)	Single nucleotide variant (missense variant)	COL6A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1024955	NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys)	COL6A3, LOC126806573 (E2511K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 197484	NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 57