List of variants reported as uncertain significance for cardiomyopathy by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	rs72629783	0.00016
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	rs45478699	0.00013
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)	rs201194435	0.00011
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)	rs371512914	0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)	rs151115778	0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	rs397517270	0.00010
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg)	rs373010557	0.00008
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)	rs372787601	0.00005
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)	rs752015224	0.00004
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)	rs373815064	0.00003
NM_000258.3(MYL3):c.461G>A (p.Arg154His)	rs104893749	0.00002
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)	rs878898365	0.00001
NM_001005242.3(PKP2):c.2194T>C (p.Ser732Pro)	rs1114167346	0.00001
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)	rs952475900	0.00001
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser)	rs878941853	0.00001
NM_001267550.2(TTN):c.92595A>C (p.Leu30865Phe)	rs192086736	0.00001
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln)	rs121434298	0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)	rs371517189	0.00001
NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val)	rs1114167342
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)	rs193922626
NM_001035.3(RYR2):c.8783A>G (p.Gln2928Arg)	rs1114167339
NM_001267550.2(TTN):c.101774_101776dup (p.Glu33925dup)	rs1553497680
NM_001267550.2(TTN):c.11887G>A (p.Gly3963Arg)	rs1000514079
NM_001267550.2(TTN):c.41486G>C (p.Gly13829Ala)	rs1114167326
NM_001267550.2(TTN):c.521A>G (p.Tyr174Cys)	rs1114167334
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys)	rs757441189
NM_001267550.2(TTN):c.86637T>A (p.Asn28879Lys)	rs1114167328
NM_001276345.2(TNNT2):c.674G>A (p.Arg225Lys)	rs1114167329
NM_001927.4(DES):c.1315G>A (p.Glu439Lys)	rs1114167347
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)	rs1114167343
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn)	rs1040079072
NM_004415.4(DSP):c.1430A>G (p.His477Arg)	rs1114167325
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg)	rs1114167344
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)	rs397517846

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.