"Revvity Omics, Revvity"[submitter] AND "LOC126806423"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691834	NM_001267550.2(TTN):c.68329+2_68329+3insTT	LOC126806423, TTN +1 more	Insertion (splice donor variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 405064	NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg)	LOC126806423, TTN +1 more (K22768R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 426390	NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)	LOC126806423, TTN +1 more (P22749fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 2438012	NM_001267550.2(TTN):c.68236G>A (p.Ala22746Thr)	LOC126806423, TTN +1 more (A13681T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 534989	NM_001267550.2(TTN):c.68224+3A>G	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 2437970	NM_001267550.2(TTN):c.68215C>T (p.His22739Tyr)	LOC126806423, TTN +1 more (H13674Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438006	NM_001267550.2(TTN):c.68198A>C (p.Glu22733Ala)	LOC126806423, TTN +1 more (E13668A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290366	NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)	LOC126806423, TTN +1 more (S22732L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 229499	NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)	LOC126806423, TTN +1 more (N20154S +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178895	NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)	LOC126806423, TTN +1 more (Q20131H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 2438160	NM_001267550.2(TTN):c.67958T>A (p.Phe22653Tyr)	LOC126806423, TTN +1 more (F13588Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325292	NM_001267550.2(TTN):c.67907_67914dup (p.Lys22639delinsSerProTer)	LOC126806423, TTN +1 more	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2437869	NM_001267550.2(TTN):c.67900G>A (p.Gly22634Arg)	LOC126806423, TTN +1 more (G13569R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690293	NM_001267550.2(TTN):c.67820C>T (p.Thr22607Ile)	LOC126806423, TTN +1 more (T13542I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165879	NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)	LOC126806423, TTN +1 more (A20035V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 202814	NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)	LOC126806423, TTN +1 more (S20957R +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 2438215	NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)	LOC126806423, TTN +1 more (D13529V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2438095	NM_001267550.2(TTN):c.67726G>A (p.Gly22576Ser)	LOC126806423, TTN +1 more (G13511S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202813	NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)	LOC126806423, TTN +1 more (R20928Q +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2690330	NM_001267550.2(TTN):c.67648C>T (p.Leu22550Phe)	LOC126806423, TTN +1 more (L13485F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 467402	NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala)	LOC126806423, TTN +1 more (V22539A +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1737294	NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)	LOC126806423, TTN +1 more (V13599I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163230	NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys)	LOC126806423, TTN +1 more (E13471K +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GUncertain significance
Select item 220680	NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)	LOC126806423, TTN +1 more (S22535N +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 2438146	NM_001267550.2(TTN):c.67451T>C (p.Ile22484Thr)	LOC126806423, TTN +1 more (I13419T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165880	NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)	LOC126806423, TTN +1 more (R19914Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity

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Items: 27