C1838244[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	Autosomal recessive titinopathy +8 more	GPathogenic
Select item 571911	NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)	TTN, TTN-AS1 (K35513E +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 178157	NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)	TTN, TTN-AS1 (R31523W +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 202495	NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)	TTN, TTN-AS1 (E23411fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GPathogenic/Likely pathogenic
Select item 202952	NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)	TTN-AS1, TTN (R27933C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 441004	NM_001267550.2(TTN):c.82328G>A (p.Arg27443His)	TTN, TTN-AS1 (R24875H +5 more)	Single nucleotide variant (missense variant)	not provided	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)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1326903	NM_001267550.2(TTN):c.69051A>G (p.Glu23017=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +5 more	Gnot provided
Select item 202391	NM_001267550.2(TTN):c.55432+5G>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided +9 more	GUncertain significance
Select item 46741	NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)	TTN (E8274K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 585095	NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn)	TTN (S6716N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46643	NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)	LOC126806430, TTN (D6249N +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 47732	NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)	TTN (S3692T)	Single nucleotide variant (intron variant +1 more)	not specified +1 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 47184	NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)	TTN (A1827S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 440979	NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)	LOC101927055, TTN (I1567T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance