"Eurofins Ntd Llc (ga)"[submitter] AND "LOC101927055"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288814	NM_001267550.2(TTN):c.4910del (p.Gly1637fs)	LOC101927055, TTN (G1637fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 196143	NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr)	LOC101927055, TTN (D1618Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 281552	NM_001267550.2(TTN):c.4837G>A (p.Ala1613Thr)	LOC101927055, TTN (A1613T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 202501	NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	LOC101927055, TTN (M1529fs +1 more)	Microsatellite (frameshift variant +1 more)	Primary dilated cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 166318	NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)	LOC101927055, TTN (M1557I +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 592953	NM_001267550.2(TTN):c.4650G>A (p.Val1550=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195993	NM_001267550.2(TTN):c.4645+8G>T	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 500608	NM_001267550.2(TTN):c.4641G>T (p.Val1547=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 195992	NM_001267550.2(TTN):c.4592T>A (p.Val1531Asp)	LOC101927055, TTN (V1531D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 47063	NM_001267550.2(TTN):c.4480+6C>T	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GBenign
Select item 166320	NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)	LOC101927055, TTN (F1466L +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 195910	NM_001267550.2(TTN):c.4362A>G (p.Leu1454=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 47049	NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)	LOC101927055, TTN (L1443P +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 47046	NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)	LOC101927055, TTN (R1441P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 594832	NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)	LOC101927055, TTN (M1437K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 405144	NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)	LOC101927055, TTN (R1431W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 498272	NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 203125	NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)	LOC101927055, TTN (R1416H +1 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 283941	NM_001267550.2(TTN):c.4238C>G (p.Ser1413Cys)	LOC101927055, TTN (S1413C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 501812	NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)	LOC101927055, TTN (R1403T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 498370	NM_001267550.2(TTN):c.4206C>T (p.Ile1402=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47034	NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)	LOC101927055, TTN (S1400T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 497127	NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)	LOC101927055, TTN (A1384S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 598342	NM_001267550.2(TTN):c.4098C>T (p.Ala1366=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 597336	NM_001267550.2(TTN):c.4040C>G (p.Ala1347Gly)	LOC101927055, TTN (A1347G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47018	NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)	LOC101927055, TTN (G1345D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 195838	NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)	LOC101927055, TTN (R1330C +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 166323	NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)	LOC101927055, TTN (G1305W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 47001	NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)	LOC101927055, TTN (S1295L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign
Select item 282599	NM_001267550.2(TTN):c.3874G>T (p.Gly1292Ter)	LOC101927055, TTN (G1292* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 238763	NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 203120	NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)	LOC101927055, TTN (M1279L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GConflicting classifications of pathogenicity
Select item 500661	NM_001267550.2(TTN):c.3819A>C (p.Glu1273Asp)	LOC101927055, TTN (E1273D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595301	NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 34