C3668940[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030734	NM_004006.3(DMD):c.10271C>T (p.Ser3424Leu)	DMD (S3416L +10 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Pectus excavatum +11 more	GConflicting classifications of pathogenicity
Select item 455945	NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)	DMD (R3113Q +8 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1966748	NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)	DMD (R861fs +5 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 3B +2 more	GPathogenic/Likely pathogenic
Select item 94616	NM_004006.3(DMD):c.4233+2C>T	DMD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 3B +5 more	GConflicting classifications of pathogenicity
Select item 915257	NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys)	DMD (E1251K +5 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +1 more	GUncertain significance
Select item 1030735	NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)	DMD (R1342C +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 699440	NM_004006.3(DMD):c.1998A>G (p.Ser666=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 162497	NM_004006.3(DMD):c.1812+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 161220	NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	DMD (L567P +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 576305	NM_004006.3(DMD):c.357+5G>A	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +5 more	GUncertain significance
Select item 29962	NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	DMD (W3*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic