C0007193[trait identifier] AND "Genetics and Genomics Program, Sidra M - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474439	NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp)	PRDM16 (R26W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 507781	NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr)	PRDM16 (A1052T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GLikely benign
Select item 978749	NM_003443.3(ZBTB17):c.709CAAGAGGAG[3] (p.237QEE[3])	ZBTB17	Microsatellite (inframe_insertion)	Primary dilated cardiomyopathy	GUncertain significance
Select item 694567	NM_144573.4(NEXN):c.1175G>A (p.Arg392Gln)	NEXN (R328Q +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 694568	NM_144573.4(NEXN):c.1238A>G (p.Gln413Arg)	NEXN (Q349R +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 978741	NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)	TTN, TTN-AS1 (I26834T +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 47720	NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	TTN, TTN-AS1 (M35859T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GConflicting classifications of pathogenicity
Select item 282653	NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)	TTN, TTN-AS1 (L32215F +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +10 more	GBenign/Likely benign
Select item 978756	NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)	TTN, TTN-AS1 (V25449I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 47654	NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)	TTN, TTN-AS1 (R34246H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 694569	NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys)	TTN, TTN-AS1 (E24470K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 165682	NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)	TTN, TTN-AS1 (D30254G +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 47589	NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)	TTN, TTN-AS1 (R32587P +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 978768	NM_001267550.2(TTN):c.96613G>A (p.Val32205Met)	LOC126806421, TTN +1 more (V23140M +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 165716	NM_001267550.2(TTN):c.94748G>A (p.Arg31583His)	TTN-AS1, TTN (R29015H +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 179810	NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)	TTN, TTN-AS1 (I28359K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 202990	NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)	TTN, TTN-AS1 (N29259S +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +13 more	GConflicting classifications of pathogenicity
Select item 943903	NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)	TTN, TTN-AS1 (R21426fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 202971	NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)	TTN-AS1, TTN (Y28664H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 96314	NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)	TTN, TTN-AS1 (V27228M +5 more)	Single nucleotide variant (missense variant)	not specified +18 more	GConflicting classifications of pathogenicity
Select item 192146	NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)	TTN, TTN-AS1 (R27010H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 47464	NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	TTN, TTN-AS1 (P29138T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 694570	NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala)	TTN, TTN-AS1 (T19988A +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 535366	NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)	TTN, TTN-AS1 (F27758L +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 179002	NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)	TTN, TTN-AS1 (T24385M +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 192152	NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)	TTN, TTN-AS1 (T23970A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 47335	NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)	TTN, TTN-AS1 (R25012W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 47328	NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)	TTN, TTN-AS1 (N24843D +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 978752	NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly)	TTN, TTN-AS1 (A15758G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694571	NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)	TTN, TTN-AS1 (V15546fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 47303	NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)	TTN, TTN-AS1 (V23961I +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 287388	NM_001267550.2(TTN):c.71348G>A (p.Arg23783His)	TTN-AS1, TTN (R23783H +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 694572	NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr)	LOC126806422, TTN +1 more (S14360T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 47254	NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)	LOC126806423, TTN +1 more (S22524N +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 191136	NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)	TTN-AS1, TTN (R22095W +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 179042	NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)	TTN, TTN-AS1 (I19342T +5 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 694573	NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr)	TTN, TTN-AS1 (P12126T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 178202	NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)	TTN-AS1, TTN (A18579T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +11 more	GConflicting classifications of pathogenicity
Select item 978765	NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys)	TTN, TTN-AS1 (E11058K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 978753	NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr)	LOC126806424, TTN +1 more (P10909T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 238813	NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)	LOC126806424, TTN +1 more (G19801D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 694574	NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp)	TTN-AS1, TTN (G15992D +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 694575	NM_001267550.2(TTN):c.54327del (p.Lys18110fs)	TTN, TTN-AS1 (K15542fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 694576	NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn)	TTN, TTN-AS1 (D15538N +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 703110	NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala)	LOC126806425, TTN +1 more (V17719A +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 535656	NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe)	TTN (L14731F +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 978769	NM_001267550.2(TTN):c.41282G>A (p.Arg13761His)	TTN (R11193H +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 978762	NM_001267550.2(TTN):c.40608del (p.Lys13536fs)	TTN (K10968fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 978766	NM_001267550.2(TTN):c.40520G>A (p.Arg13507His)	TTN (R10939H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 978760	NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del)	TTN (K10845del +2 more)	Microsatellite (inframe_deletion +1 more)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 978740	NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile)	TTN (K12992I)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 467082	NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)	TTN (P12501L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 694577	NM_001267550.2(TTN):c.35338G>A (p.Glu11780Lys)	TTN (E10479K +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 46914	NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)	TTN (K11755T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 694578	NM_001267550.2(TTN):c.35225A>T (p.Lys11742Ile)	TTN (K10441I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 467026	NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu)	TTN (P11055L +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +3 more	GUncertain significance
Select item 202559	NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala)	TTN (P10015A +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 46790	NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)	TTN (R8922Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 203343	NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)	TTN (V8404M +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 203333	NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)	TTN (R8039C +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 978732	NM_001267550.2(TTN):c.18265G>A (p.Asp6089Asn)	LOC126806430, TTN (D4845N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 179056	NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)	LOC126806431, TTN (G4604E +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 166246	NM_133379.5(TTN):c.16613G>A (p.Arg5538His)	TTN (R5538H)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 978754	NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser)	TTN (P5379S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 978751	NM_133379.5(TTN):c.12538T>A (p.Cys4180Ser)	TTN (C4180S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 166293	NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)	TTN (T3295M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 282852	NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)	TTN (R3150* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 178867	NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)	TTN (E3059V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 47461	NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)	TTN, TTN-AS1 (R2654K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 694555	NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp)	LOC126806433, TTN (E2259D +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 46938	NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)	TTN (V1099M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 178274	NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)	TTN (T799M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 694556	NM_001267550.2(TTN):c.1013G>A (p.Gly338Asp)	TTN (G338D)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 44274	NM_001927.4(DES):c.934G>A (p.Asp312Asn)	DES (D312N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +6 more	GConflicting classifications of pathogenicity
Select item 67704	NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)	SCN5A (A672T)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 67672	NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)	SCN5A (R535Q)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 67656	NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)	SCN5A (E446K)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 67663	NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys)	SCN5A (E48K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GUncertain significance
Select item 282121	NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)	SGCB (T265I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290601	NM_000232.5(SGCB):c.680G>A (p.Arg227His)	SGCB (R227H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 92661	NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)	SGCB	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of beta-sarcoglycan +4 more	GConflicting classifications of pathogenicity
Select item 978759	NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del)	LOC129992585, SGCB (A9del)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 694557	NM_000337.6(SGCD):c.538A>T (p.Thr180Ser)	SGCD (T179S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 43358	NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)	SGCD (Q283R +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 416513	NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del)	NKX2-5 (P214del)	Microsatellite (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 44869	NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)	DSP (N650S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 163257	NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)	DSP (Y895C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 163266	NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)	DSP (T1217M)	Single nucleotide variant (missense variant +1 more)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 44936	NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)	DSP (D2070N +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GConflicting classifications of pathogenicity
Select item 163290	NM_004415.4(DSP):c.8415C>T (p.Ala2805=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 978755	NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val)	LAMA4, LAMA4-AS1 (A63V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GConflicting classifications of pathogenicity
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_deletion +1 more)	Dilated cardiomyopathy 1P +6 more	GConflicting classifications of pathogenicity
Select item 978738	NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val)	LAMA2 (A912V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 694558	NM_000426.4(LAMA2):c.4607C>T (p.Pro1536Leu)	LAMA2 (P1536L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 840554	NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)	LAMA2 (G2347V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 355294	NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)	LAMA2 (R2353C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 432055	NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)	LAMA2 (G2948S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 566814	NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)	LAMA2 (R2969C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 978742	NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser)	TBX20 (T4S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 511498	NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2])	CAVIN4	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity

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