"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196651	NM_001267550.2(TTN):c.100766-10dup	TTN, TTN-AS1	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 332703	NM_001267550.2(TTN):c.100766-10del	TTN, TTN-AS1	Deletion (intron variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 3255539	NM_001267550.2(TTN):c.89637T>A (p.Asn29879Lys)	TTN, TTN-AS1 (N20814K +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3374731	NM_001267550.2(TTN):c.88068G>A (p.Trp29356Ter)	TTN, TTN-AS1 (W20291* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 1702975	NM_001267550.2(TTN):c.87877del (p.Arg29293fs)	TTN, TTN-AS1 (R20228fs +5 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 660709	NM_001267550.2(TTN):c.85519dup (p.Met28507fs)	TTN, TTN-AS1 (M19567fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GPathogenic/Likely pathogenic
Select item 47399	NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 689590	NM_001267550.2(TTN):c.81341dup (p.Asn27115fs)	TTN, TTN-AS1 (N18242fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 2444018	NM_001267550.2(TTN):c.79809dup (p.Val26604fs)	TTN-AS1, TTN (V17539fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 446426	NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)	TTN, TTN-AS1 (Y25182* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GPathogenic/Likely pathogenic
Select item 1879007	NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)	TTN, TTN-AS1 (E15629* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 689532	NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter)	TTN, TTN-AS1 (E14630* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 1027651	NM_001267550.2(TTN):c.68022del (p.Glu22675fs)	LOC126806423, TTN +1 more (E13610fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 575441	NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)	TTN-AS1, LOC126806424 +1 more (R19950* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 1175018	NM_001267550.2(TTN):c.57847+7dup	TTN, TTN-AS1	Duplication (intron variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 418528	NM_001267550.2(TTN):c.57847+19del	TTN, TTN-AS1	Deletion (intron variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 3235138	NM_001267550.2(TTN):c.54985dup (p.Ile18329fs)	TTN, TTN-AS1 (I15761fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3255540	NM_001267550.2(TTN):c.53736T>A (p.Val17912=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 2578378	NM_001267550.2(TTN):c.50723del (p.Lys16908fs)	TTN, TTN-AS1 (K14340fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 674549	NM_001267550.2(TTN):c.38380+21_38380+23del	TTN	Deletion (intron variant)	not provided	GBenign
Select item 3255541	NM_001267550.2(TTN):c.36376T>G (p.Ser12126Ala)	TTN (S12126A)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2	GUncertain significance
Select item 3255542	NM_001267550.2(TTN):c.35959+17C>G	TTN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 332897	NM_001267550.2(TTN):c.30683-3del	TTN	Deletion (intron variant)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 1693571	NM_001267550.2(TTN):c.22556_22558dup (p.Ile7519_Lys7520insIle)	TTN	Duplication (inframe_insertion +1 more)	Cardiomyopathy	GUncertain significance
Select item 47826	NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)	TTN (I4194F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 689533	NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter)	TTN (K1749* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 46641	NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)	TTN (V498I)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27