"Revvity Omics, Revvity"[submitter] AND "LOC126806421"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438328	NM_001267550.2(TTN):c.96947T>C (p.Ile32316Thr)	LOC126806421, TTN +1 more (I23251T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693832	NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)	LOC126806421, TTN +1 more (P23247S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 238871	NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)	LOC126806421, TTN +1 more (T32310P +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 2437580	NM_001267550.2(TTN):c.96919G>A (p.Asp32307Asn)	TTN-AS1, LOC126806421 +1 more (D23242N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 47572	NM_001267550.2(TTN):c.96904+4T>C	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 499885	NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)	LOC126806421, TTN +1 more (V29727M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 404963	NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys)	LOC126806421, TTN +1 more (E32290K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 2437700	NM_001267550.2(TTN):c.96854T>C (p.Val32285Ala)	LOC126806421, TTN +1 more (V23220A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437489	NM_001267550.2(TTN):c.96830T>A (p.Ile32277Lys)	LOC126806421, TTN +1 more (I23212K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437751	NM_001267550.2(TTN):c.96803A>G (p.Asn32268Ser)	LOC126806421, TTN +1 more (N23203S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 405088	NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)	LOC126806421, TTN +1 more (R32233Q +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 405089	NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)	LOC126806421, TTN +1 more (D32229N +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 592915	NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser)	TTN-AS1, LOC126806421 +1 more (T29647S +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 203024	NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)	LOC126806421, TTN +1 more (D30572N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 203023	NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu)	LOC126806421, TTN +1 more (V30561L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1756262	NM_001267550.2(TTN):c.96599C>T (p.Ser32200Leu)	LOC126806421, TTN +1 more (S23135L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2438101	NM_001267550.2(TTN):c.96574G>A (p.Glu32192Lys)	LOC126806421, TTN +1 more (E23127K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448835	NM_001267550.2(TTN):c.96526T>A (p.Tyr32176Asn)	LOC126806421, TTN +1 more (Y32176N +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2437521	NM_001267550.2(TTN):c.96503G>A (p.Gly32168Glu)	LOC126806421, TTN +1 more (G23103E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 535132	NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)	LOC126806421, TTN +1 more (V32142I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 1325278	NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)	LOC126806421, TTN +1 more (Y23075* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 2438031	NM_001267550.2(TTN):c.96413A>T (p.Asn32138Ile)	LOC126806421, TTN +1 more (N23073I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437749	NM_001267550.2(TTN):c.96356G>A (p.Arg32119Lys)	LOC126806421, TTN +1 more (R23054K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47569	NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)	LOC126806421, TTN +1 more (A32096T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 404774	NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)	TTN-AS1, LOC126806421 +1 more (D32079H +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 196196	NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)	LOC126806421, TTN +1 more (D32079N +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 440366	NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg)	LOC126806421, TTN +1 more (I32071R +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 229549	NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)	LOC126806421, TTN +1 more (R29490Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 498721	NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)	LOC126806421, TTN +1 more (R29490W +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47564	NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)	LOC126806421, TTN +1 more (T32047M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 448834	NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2437800	NM_001267550.2(TTN):c.96125C>T (p.Pro32042Leu)	LOC126806421, TTN +1 more (P22977L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437494	NM_001267550.2(TTN):c.96049G>A (p.Ala32017Thr)	LOC126806421, TTN +1 more (A22952T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 33