"Ambry Genetics"[submitter] AND "LOC126806420"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1758279	NM_001267550.2(TTN):c.100346A>C (p.Glu33449Ala)	LOC126806420, TTN +1 more (E24384A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 720557	NM_001267550.2(TTN):c.100335A>G (p.Glu33445=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1758263	NM_001267550.2(TTN):c.100310A>G (p.Asn33437Ser)	LOC126806420, TTN +1 more (N31796S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1088164	NM_001267550.2(TTN):c.100299G>A (p.Glu33433=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 284250	NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)	LOC126806420, TTN +1 more (R30864H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 1563664	NM_001267550.2(TTN):c.100284C>T (p.Tyr33428=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 165665	NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 179677	NM_001267550.2(TTN):c.100257T>C (p.Asp33419=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 263362	NM_001267550.2(TTN):c.100245A>C (p.Pro33415=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 569626	NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)	LOC126806420, TTN +1 more (P33415L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 191829	NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)	LOC126806420, TTN +1 more (C30841Y +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 1631582	NM_001267550.2(TTN):c.100197A>G (p.Pro33399=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1758131	NM_001267550.2(TTN):c.100181G>A (p.Gly33394Asp)	LOC126806420, TTN +1 more (G30826D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3330151	NM_001267550.2(TTN):c.100179A>C (p.Pro33393=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566414	NM_001267550.2(TTN):c.100179A>T (p.Pro33393=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 660870	NM_001267550.2(TTN):c.100172-3T>C	LOC126806420, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 196647	NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 196646	NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)	LOC126806420, TTN +1 more (S33388N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 405132	NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)	LOC126806420, TTN +1 more (G33373S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 283290	NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1758111	NM_001267550.2(TTN):c.100112C>T (p.Thr33371Ile)	LOC126806420, TTN +1 more (T24306I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 47625	NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)	LOC126806420, TTN +1 more (V33366I +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 47624	NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)	LOC126806420, TTN +1 more (R33365Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1758081	NM_001267550.2(TTN):c.100061T>C (p.Val33354Ala)	LOC126806420, TTN +1 more (V24289A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 47623	NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 518891	NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr)	LOC126806420, TTN +1 more (I24288T +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264023	NM_001267550.2(TTN):c.100050C>A (p.Thr33350=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 404664	NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)	LOC126806420, TTN +1 more (T33350I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 179190	NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 1758073	NM_001267550.2(TTN):c.100019A>G (p.Gln33340Arg)	LOC126806420, TTN +1 more (Q31699R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 47622	NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)	LOC126806420, TTN +1 more (C33331R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 290459	NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 167757	NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)	LOC126806420, TTN +1 more (V33328M +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 178160	NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 332704	NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)	LOC126806420, TTN +1 more (W33322C +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 805735	NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg)	LOC126806420, TTN +1 more (G24446R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1159825	NM_001267550.2(TTN):c.99954C>T (p.Asp33318=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 203051	NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)	LOC126806420, TTN +1 more (A31675T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 714044	NM_001267550.2(TTN):c.99945C>T (p.Pro33315=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 3223349	NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter)	LOC126806420, TTN +1 more (W24247* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 796000	NM_001267550.2(TTN):c.99933C>T (p.Ser33311=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1758022	NM_001267550.2(TTN):c.99931A>G (p.Ser33311Gly)	LOC126806420, TTN +1 more (S24246G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1607637	NM_001267550.2(TTN):c.99927G>C (p.Val33309=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 281829	NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)	LOC126806420, TTN +1 more (A31667T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 413137	NM_001267550.2(TTN):c.99921C>T (p.Ser33307=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1109162	NM_001267550.2(TTN):c.99910T>C (p.Leu33304=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 47621	NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)	LOC126806420, TTN +1 more (E33301K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 736986	NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity
Select item 2566395	NM_001267550.2(TTN):c.99885A>G (p.Thr33295=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1757982	NM_001267550.2(TTN):c.99865+2T>C	LOC126806420, TTN +1 more	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2451844	NM_001267550.2(TTN):c.99859dup (p.Ile33287fs)	LOC126806420, TTN +1 more (I24347fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1757977	NM_001267550.2(TTN):c.99845T>C (p.Ile33282Thr)	TTN-AS1, LOC126806420 +1 more (I24217T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 594195	NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 47620	NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)	LOC126806420, TTN +1 more (G33277E +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more	GConflicting classifications of pathogenicity
Select item 179463	NM_001267550.2(TTN):c.99810C>T (p.Val33270=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 1581516	NM_001267550.2(TTN):c.99774T>C (p.Asn33258=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1199155	NM_001267550.2(TTN):c.99753T>C (p.Tyr33251=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1307592	NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)	LOC126806420, TTN +1 more (Y24186C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +7 more	GUncertain significance
Select item 196644	NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)	LOC126806420, TTN +1 more (S33240* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GLikely pathogenic
Select item 1102067	NM_001267550.2(TTN):c.99709T>C (p.Leu33237=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2451845	NM_001267550.2(TTN):c.99696T>C (p.His33232=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 263363	NM_001267550.2(TTN):c.99675A>C (p.Val33225=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1757886	NM_001267550.2(TTN):c.99663T>C (p.Ile33221=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1153918	NM_001267550.2(TTN):c.99660C>T (p.Tyr33220=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1757881	NM_001267550.2(TTN):c.99644G>A (p.Arg33215Gln)	LOC126806420, TTN +1 more (R30647Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1757880	NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)	LOC126806420, TTN +1 more (R24275W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 728560	NM_001267550.2(TTN):c.99636C>G (p.Ser33212=)	LOC126806420, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign

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Items: 67