"GeneDx"[submitter] AND "LOC126806421"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 515108	NM_001267550.2(TTN):c.96949C>G (p.His32317Asp)	LOC126806421, TTN +1 more (H30676D +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 47574	NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)	LOC126806421, TTN +1 more (T32315I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47573	NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 1220387	NM_001267550.2(TTN):c.96904+34T>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191780	NM_001267550.2(TTN):c.96904+18dup	LOC126806421, TTN +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 47572	NM_001267550.2(TTN):c.96904+4T>C	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 679594	NM_001267550.2(TTN):c.96892C>G (p.Gln32298Glu)	LOC126806421, TTN +1 more (Q23425E +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 499885	NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)	LOC126806421, TTN +1 more (V29727M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1205128	NM_001267550.2(TTN):c.96879A>G (p.Thr32293=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 697691	NM_001267550.2(TTN):c.96873T>C (p.Thr32291=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1066644	NM_001267550.2(TTN):c.96849del (p.Gly32284fs)	LOC126806421, TTN +1 more (G23219fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GPathogenic/Likely pathogenic
Select item 1929281	NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)	LOC126806421, TTN +1 more (Q29712* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GLikely pathogenic
Select item 681028	NM_001267550.2(TTN):c.96824T>C (p.Phe32275Ser)	LOC126806421, TTN +1 more (F23335S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 596374	NM_001267550.2(TTN):c.96796T>C (p.Ser32266Pro)	LOC126806421, TTN +1 more (S32266P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343541	NM_001267550.2(TTN):c.96725G>A (p.Cys32242Tyr)	LOC126806421, TTN +1 more (C23177Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302557	NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 202528	NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)	LOC126806421, TTN +1 more (R30592* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 405089	NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)	LOC126806421, TTN +1 more (D32229N +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 137814	NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1068361	NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)	LOC126806421, TTN +1 more (W23158* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 592915	NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser)	TTN-AS1, LOC126806421 +1 more (T29647S +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 203024	NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)	LOC126806421, TTN +1 more (D30572N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2502626	NM_001267550.2(TTN):c.96628G>T (p.Glu32210Ter)	LOC126806421, TTN +1 more (E23145* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 203023	NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu)	LOC126806421, TTN +1 more (V30561L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 386777	NM_001267550.2(TTN):c.96549T>C (p.Asn32183=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 513325	NM_001267550.2(TTN):c.96525C>T (p.Tyr32175=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 96318	NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1302493	NM_001267550.2(TTN):c.96433C>T (p.Arg32145Cys)	LOC126806421, TTN +1 more (R23080C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202336	NM_001267550.2(TTN):c.96421A>G (p.Ile32141Val)	LOC126806421, TTN +1 more (I30500V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 682469	NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met)	LOC126806421, TTN +1 more (T23065M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203022	NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys)	LOC126806421, TTN +1 more (W30485C +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3372503	NM_001267550.2(TTN):c.96311-1G>A	LOC126806421, TTN +1 more	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 47570	NM_001267550.2(TTN):c.96310+11T>C	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 202426	NM_001267550.2(TTN):c.96310+2T>G	LOC126806421, TTN +1 more	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 203021	NM_001267550.2(TTN):c.96299T>C (p.Val32100Ala)	LOC126806421, TTN +1 more (V30459A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 47569	NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)	LOC126806421, TTN +1 more (A32096T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47568	NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 196196	NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)	LOC126806421, TTN +1 more (D32079N +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 47567	NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 404689	NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)	LOC126806421, TTN +1 more (R32077Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 202527	NM_001267550.2(TTN):c.96225T>A (p.Val32075=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 165704	NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 229549	NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)	LOC126806421, TTN +1 more (R29490Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 498721	NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)	LOC126806421, TTN +1 more (R29490W +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47566	NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)	LOC126806421, TTN +1 more (I32053T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign
Select item 47564	NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)	LOC126806421, TTN +1 more (T32047M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 448834	NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 203020	NM_001267550.2(TTN):c.96112G>A (p.Val32038Ile)	LOC126806421, TTN +1 more (V30397I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 47563	NM_001267550.2(TTN):c.96108G>A (p.Val32036=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47562	NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)	LOC126806421, TTN +1 more (R32033H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 390457	NM_001267550.2(TTN):c.96051A>G (p.Ala32017=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign

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Items: 53