mset_id	variant_name	previous_value	current_value	date_modified
597508	NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
388568	NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp)	Pathogenic	Pathogenic/Likely pathogenic	2019-10-18
661030	NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
446778	NM_001287174.2(ABCC8):c.4594A>C (p.Thr1532Pro)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
559879	NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	Likely pathogenic	Pathogenic/Likely pathogenic	2019-10-18
473934	NM_032415.6(CARD11):c.3145-3C>T	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
650423	NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
550179	NM_000153.4(GALC):c.621G>A (p.Lys207=)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
520752	NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs)	Pathogenic	Pathogenic/Likely pathogenic	2019-10-18
412358	NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	Likely pathogenic	Pathogenic/Likely pathogenic	2019-10-18
156444	NM_005896.3(IDH1):c.395G>A (p.Arg132His)	Pathogenic/Likely pathogenic	Pathogenic	2019-10-18
650932	NM_000540.2(RYR1):c.11947C>T (p.Arg3983Cys)	Pathogenic	Pathogenic/Likely pathogenic	2019-10-18
405208	NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
253091	NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)	association	Pathogenic	2019-10-18
50936	NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
204592	NM_203290.4(POLR1C):c.326G>A (p.Arg109His)	Pathogenic	Pathogenic/Likely pathogenic	2019-10-18
637695	NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
374255	NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	Pathogenic	Likely pathogenic	2019-10-18
539375	NM_001458.4(FLNC):c.7180G>C (p.Asp2394His)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
636644	NM_032415.6(CARD11):c.2921G>A (p.Arg974His)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
590367	NM_000540.2(RYR1):c.10501dup (p.Asp3501fs)	Likely pathogenic	Pathogenic/Likely pathogenic	2019-10-18
406228	NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	Pathogenic	Pathogenic/Likely pathogenic	2019-10-18
369778	NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val)	Pathogenic	Likely pathogenic	2019-10-18
237933	NM_000535.7(PMS2):c.917T>A (p.Val306Glu)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-18
9189	NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	Pathogenic	Likely pathogenic	2019-10-18
10377	NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)	other	Pathogenic	2019-10-18
636992	NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-17
474419	NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)	Likely benign	Conflicting interpretations of pathogenicity	2019-10-17
60726	NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)	Pathogenic	Uncertain significance	2019-10-17
197414	NM_004006.2(DMD):c.5723A>T (p.Asp1908Val)	Likely benign	Conflicting interpretations of pathogenicity	2019-10-17
43659	NM_000364.4(TNNT2):c.641_643AGA[3] (p.Lys217del)	Pathogenic	Pathogenic/Likely pathogenic	2019-10-17
201758	NM_004006.2(DMD):c.2273A>C (p.Asp758Ala)	Benign	Conflicting interpretations of pathogenicity	2019-10-17
660714	NM_001103.3(ACTN2):c.574C>T (p.Arg192Ter)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-17
535956	NM_000548.5(TSC2):c.3881dup (p.Asp1295fs)	Pathogenic	Likely benign	2019-10-17
241471	NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)	Uncertain significance	Conflicting interpretations of pathogenicity	2019-10-17
599646	NM_033500.2(HK1):c.1216A>G (p.Lys406Glu)	Pathogenic/Likely pathogenic	Likely pathogenic	2019-10-15
631500	NM_145690.3(YWHAZ):c.434C>T (p.Ser145Leu)	Pathogenic	Uncertain significance	2019-10-15
631502	NM_145690.3(YWHAZ):c.687_688dup (p.Ser230fs)	Pathogenic	Uncertain significance	2019-10-15
631499	NM_145690.3(YWHAZ):c.157G>A (p.Gly53Arg)	Pathogenic	Uncertain significance	2019-10-15
631501	NM_145690.3(YWHAZ):c.40G>T (p.Glu14Ter)	Pathogenic	Uncertain significance	2019-10-15