"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC101927055"[ - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379391	NM_001267550.2(TTN):c.4916A>G (p.Asp1639Gly)	LOC101927055, TTN (D1593G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2682796	NM_001267550.2(TTN):c.4679A>G (p.Glu1560Gly)	LOC101927055, TTN (E1514G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3379392	NM_001267550.2(TTN):c.4636A>G (p.Thr1546Ala)	LOC101927055, TTN (T1500A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2682797	NM_001267550.2(TTN):c.4556C>T (p.Pro1519Leu)	LOC101927055, TTN (P1473L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 467163	NM_001267550.2(TTN):c.4453A>G (p.Met1485Val)	LOC101927055, TTN (M1485V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 203128	NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)	LOC101927055, TTN (P1424S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 203127	NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)	LOC101927055, TTN (R1421Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2682798	NM_001267550.2(TTN):c.4135T>G (p.Leu1379Val)	LOC101927055, TTN (L1333V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682799	NM_001267550.2(TTN):c.4090G>A (p.Ala1364Thr)	LOC101927055, TTN (A1318T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892791	NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala)	LOC101927055, TTN (T1363A +1 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 229444	NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)	LOC101927055, TTN (I1361L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 535565	NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)	LOC101927055, TTN (D1358Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1163822	NM_001267550.2(TTN):c.4066C>T (p.Pro1356Ser)	LOC101927055, TTN (P1310S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195838	NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)	LOC101927055, TTN (R1330C +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 166323	NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)	LOC101927055, TTN (G1305W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity