"Revvity Omics, Revvity"[submitter] AND "LOC126806425"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 389763	NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 413198	NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)	LOC126806425, TTN +1 more (F17754S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1284639	NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)	LOC126806425, TTN +1 more (R15168Q +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 202708	NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	LOC126806425, TTN +1 more (I16079T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 676625	NM_001267550.2(TTN):c.53150G>A (p.Arg17717His)	LOC126806425, TTN +1 more (R8652H +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2437663	NM_001267550.2(TTN):c.53137C>T (p.Leu17713=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 192165	NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)	LOC126806425, TTN +1 more (K15140E +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 202707	NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)	LOC126806425, TTN +1 more (G16046V +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 165991	NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)	LOC126806425, TTN +1 more (M15117I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 165992	NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)	LOC126806425, TTN +1 more (A15103V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1793268	NM_001267550.2(TTN):c.52928G>T (p.Arg17643Leu)	LOC126806425, TTN +1 more (R16002L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 229459	NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)	LOC126806425, TTN +1 more (R15075W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 202705	NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile)	LOC126806425, TTN +1 more (V15990I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 195714	NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)	LOC126806425, TTN +1 more (R17627H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 47066	NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	LOC126806425, TTN +1 more (R17618C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more	GConflicting classifications of pathogenicity
Select item 202704	NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)	LOC126806425, TTN +1 more (V15970I +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 282638	NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)	LOC126806425, TTN +1 more (Q17609L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 2437928	NM_001267550.2(TTN):c.52802T>C (p.Ile17601Thr)	TTN-AS1, LOC126806425 +1 more (I15033T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 238797	NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)	LOC126806425, TTN +1 more (S17569Y +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 1328196	NM_001267550.2(TTN):c.52592T>C (p.Val17531Ala)	LOC126806425, TTN +1 more (V14963A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96294	NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)	LOC126806425, TTN +1 more (N17512K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity

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Items: 21