"Revvity Omics, Revvity"[submitter] AND "LOC126806430"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437827	NM_001267550.2(TTN):c.18966T>C (p.Ser6322=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1601131	NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr)	LOC126806430, TTN (S5069T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2437462	NM_001267550.2(TTN):c.18857T>C (p.Val6286Ala)	LOC126806430, TTN (V5042A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690396	NM_001267550.2(TTN):c.18848G>A (p.Ser6283Asn)	LOC126806430, TTN (S5039N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437698	NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)	LOC126806430, TTN (C5027* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 178249	NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)	LOC126806430, TTN (K5016Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2438377	NM_001267550.2(TTN):c.18740T>G (p.Leu6247Trp)	LOC126806430, TTN (L5003W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 263663	NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 198313	NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala)	LOC126806430, TTN (T6225A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 2437851	NM_001267550.2(TTN):c.18662A>G (p.Glu6221Gly)	LOC126806430, TTN (E4977G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 448771	NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)	LOC126806430, TTN (E6219K +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 2437920	NM_001267550.2(TTN):c.18608G>T (p.Arg6203Ile)	LOC126806430, TTN (R4959I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437932	NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu)	LOC126806430, TTN (K5879E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282706	NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)	LOC126806430, TTN (T6186M +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 203272	NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)	LOC126806430, TTN (A5867T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 871245	NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln)	LOC126806430, TTN (R4937Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2437732	NM_001267550.2(TTN):c.18521G>T (p.Gly6174Val)	LOC126806430, TTN (G4930V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 535528	NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys)	LOC126806430, TTN (T6124K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 682313	NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu)	LOC126806430, TTN (D4845E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894437	NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val)	LOC126806430, TTN (I4839V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 2437624	NM_001267550.2(TTN):c.18197C>T (p.Ser6066Phe)	LOC126806430, TTN (S4822F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 203268	NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)	LOC126806430, TTN (R5741C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GConflicting classifications of pathogenicity
Select item 1309998	NM_001267550.2(TTN):c.18151G>A (p.Glu6051Lys)	LOC126806430, TTN (E4807K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 23