"Illumina Laboratory Services, Illumina"[submitter] AND "LOC101927055" - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179059	NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)	LOC101927055, TTN (S1625C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 47100	NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)	LOC101927055, TTN (T1580M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 47098	NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)	LOC101927055, TTN (R1572Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 332956	NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 47078	NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)	LOC101927055, TTN (I1544V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 892729	NM_001267550.2(TTN):c.4506C>T (p.Thr1502=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GUncertain significance
Select item 47063	NM_001267550.2(TTN):c.4480+6C>T	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +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)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 47050	NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
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 332957	NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)	LOC101927055, TTN (R1441H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
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 332958	NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val)	LOC101927055, TTN (G1440V +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 507560	NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln)	LOC101927055, TTN (R1431Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 47040	NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)	LOC101927055, TTN (R1416C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GBenign/Likely benign
Select item 47034	NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)	LOC101927055, TTN (S1400T +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 47032	NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)	LOC101927055, TTN (I1393V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 892791	NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala)	LOC101927055, TTN (T1363A +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 192086	NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)	LOC101927055, TTN (E1359G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
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 893599	NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly)	LOC101927055, TTN (D1298G +1 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 47014	NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 47001	NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)	LOC101927055, TTN (S1295L +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GBenign
Select item 46985	NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign

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Items: 24