CN239417[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062091	NM_001267550.2(TTN):c.99045_99046insCC (p.Thr33016fs)	TTN-AS1, TTN (T23951fs +5 more)	Insertion (non-coding transcript variant +1 more)	TTN-Related Disorders	GPathogenic
Select item 1328160	NM_001267550.2(TTN):c.86411C>T (p.Thr28804Ile)	TTN, TTN-AS1 (T19739I +5 more)	Single nucleotide variant (missense variant)	TTN-Related Disorders	GUncertain significance
Select item 165813	NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)	TTN, TTN-AS1 (I24333V +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +10 more	GConflicting classifications of pathogenicity
Select item 223383	NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)	TTN, TTN-AS1 (N16432fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 1328161	NM_001267550.2(TTN):c.52531G>A (p.Val17511Ile)	LOC126806425, TTN +1 more (V14943I +5 more)	Single nucleotide variant (missense variant)	TTN-Related Disorders	GUncertain significance
Select item 631831	NM_001267550.2(TTN):c.52323C>A (p.Tyr17441Ter)	TTN, TTN-AS1 (Y14873* +5 more)	Single nucleotide variant (nonsense)	TTN-Related Disorders	GUncertain significance
Select item 631832	NM_001267550.2(TTN):c.48180_48183dup (p.Leu16062fs)	TTN, TTN-AS1 (L13494fs +5 more)	Duplication (frameshift variant)	TTN-Related Disorders	GUncertain significance
Select item 631833	NM_001267550.2(TTN):c.41683dup (p.Cys13895fs)	TTN (C11327fs +5 more)	Duplication (frameshift variant)	TTN-Related Disorders	GUncertain significance
Select item 223256	NM_001267550.2(TTN):c.40558+1G>A	TTN	Single nucleotide variant (splice donor variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 617586	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	TTN (E12913*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GPathogenic/Likely pathogenic
Select item 631834	NM_001267550.2(TTN):c.30684dup (p.Thr10229fs)	TTN (T10229fs +2 more)	Duplication (frameshift variant +1 more)	TTN-Related Disorders	GUncertain significance
Select item 632062	NM_001267550.2(TTN):c.30683-2_30683-1insT	TTN	Insertion (intron variant +1 more)	TTN-Related Disorders	GUncertain significance
Select item 520479	NM_001267550.2(TTN):c.30683-2del	TTN	Deletion (splice acceptor variant +1 more)	TTN-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 332899	NM_001267550.2(TTN):c.30333C>A (p.Tyr10111Ter)	TTN (Y8867* +2 more)	Single nucleotide variant (nonsense +1 more)	TTN-Related Disorders	GUncertain significance
Select item 202356	NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)	TTN (Q9432* +2 more)	Single nucleotide variant (nonsense +1 more)	TTN-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 3062114	NM_001267550.2(TTN):c.21231G>A (p.Trp7077Ter)	LOC126806428, TTN (W5833* +2 more)	Single nucleotide variant (nonsense +1 more)	TTN-Related Disorders	GPathogenic
Select item 46643	NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)	LOC126806430, TTN (D6249N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 284964	NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)	TTN (R4064* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 288998	NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)	TTN (R3204* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 284258	NM_001267550.2(TTN):c.8902+1G>A	TTN	Single nucleotide variant (splice donor variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 498382	NM_001267550.2(TTN):c.8377G>T (p.Glu2793Ter)	TTN (E2793* +1 more)	Single nucleotide variant (nonsense)	TTN-Related Disorders +1 more	GUncertain significance
Select item 47184	NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)	TTN (A1827S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 223360	NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)	TTN (R109*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance

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Items: 23