CN029274[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288944	NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)	COL6A3 (E2746K +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +4 more	GConflicting classifications of pathogenicity
Select item 128822	NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)	COL6A3 (A2670V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 94991	NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)	COL6A3 (R2549W +4 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +4 more	GBenign/Likely benign
Select item 385843	NM_004369.4(COL6A3):c.6592-16A>T	COL6A3	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +4 more	GBenign
Select item 289646	NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)	COL6A3 (P1942L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193877	NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)	COL6A3 (I1781V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94942	NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)	COL6A3 (P1080S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +5 more	GBenign/Likely benign
Select item 94941	NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)	COL6A3 (R1426Q +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +5 more	GBenign/Likely benign
Select item 476523	NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)	COL6A3 (I1437F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94931	NM_004369.4(COL6A3):c.4285+17G>A	COL6A3	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 94929	NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	COL6A3 (R788Q +2 more)	Single nucleotide variant (missense variant)	Dystonia 27 +5 more	GConflicting classifications of pathogenicity
Select item 235302	NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)	COL6A3 (R1395W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 284966	NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)	COL6A3 (I1167F +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 289937	NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)	COL6A3 (R1075W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 94918	NM_004369.4(COL6A3):c.3071-16G>A	COL6A3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 288419	NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)	COL6A3 (G1019R +3 more)	Single nucleotide variant (missense variant)	COL6A3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 162547	NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)	COL6A3 (K1014E +3 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +5 more	GConflicting classifications of pathogenicity
Select item 259296	NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 1004320	NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)	COL6A3 (A217V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 94902	NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 1A +5 more	GBenign/Likely benign
Select item 282445	NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)	COL6A3 (A320T +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 27 +4 more	GConflicting classifications of pathogenicity
Select item 1367714	NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)	COL6A3 (Q304R +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 288686	NM_004369.4(COL6A3):c.709+8C>T	COL6A3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 258311	NM_001848.3(COL6A1):c.97+20G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 195150	NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	COL6A1 (R68C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128813	NM_001848.3(COL6A1):c.349G>A (p.Val117Met)	COL6A1 (V117M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 93895	NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 93807	NM_001848.3(COL6A1):c.1120-12G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 93808	NM_001848.3(COL6A1):c.1273-8C>T	COL6A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 648076	NM_001848.3(COL6A1):c.1575+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1A +2 more	GLikely pathogenic
Select item 195952	NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)	COL6A1 (I562V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 285997	NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	COL6A1 (P716L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93862	NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)	COL6A1	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 93869	NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)	COL6A1	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1579567	NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)	COL6A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 1A +1 more	GLikely benign
Select item 282475	NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)	COL6A2 (V57I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 93953	NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)	COL6A2 (E106K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 196330	NM_001849.4(COL6A2):c.510C>T (p.Cys170=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 844254	NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)	COL6A2 (P357L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 93904	NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 93934	NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 288586	NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)	COL6A2 (D751N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 262302	NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 162538	NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)	COL6A2 (R853Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 128815	NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	COL6A2, FTCD (A994T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 502086	NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)	COL6A2 (F1010C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GUncertain significance

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Items: 46