LOC129935183[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	CHROMR, FKBP7 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 560108	Single allele	LOC126806420, LOC126806421 +12 more	Deletion	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 535754	NC_000002.12:g.(?_178528254)_(178544135_?)del	LOC129935186, LOC126806420 +7 more	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 518547	NM_001267550.2(TTN):c.105967G>A (p.Gly35323Ser)	TTN-AS1, LOC129935183 +1 more (G26258S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2933180	NM_001267550.2(TTN):c.105966T>C (p.Asp35322=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2118373	NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)	LOC129935183, TTN +1 more (Y26255F +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2032826	NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)	LOC129935183, TTN +1 more (W32751* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1383861	NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn)	LOC129935183, TTN +1 more (T26253N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 574287	NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser)	LOC129935183, TTN +1 more (T35318S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1432461	NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser)	LOC129935183, TTN +1 more (T26378S +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2941738	NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)	LOC129935183, TTN +1 more (V35317A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1648428	NM_001267550.2(TTN):c.105945A>G (p.Lys35315=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 203102	NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)	LOC129935183, TTN +1 more (A33673T +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1446848	NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser)	LOC129935183, TTN +1 more (R26248S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 222864	NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)	LOC129935183, TTN +1 more (L35312* +5 more)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1508860	NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn)	LOC129935183, TTN +1 more (S26370N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 466746	NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr)	LOC129935183, TTN +1 more (S35310T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2097716	NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)	LOC129935183, TTN +1 more (S26245R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2937849	NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)	LOC129935183, TTN +1 more (E26243A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2054925	NM_001267550.2(TTN):c.105921T>G (p.Val35307=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 466745	NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)	LOC129935183, TTN +1 more (V35307A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 466744	NM_001267550.2(TTN):c.105916G>A (p.Val35306Met)	LOC129935183, TTN +1 more (V35306M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2177445	NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)	LOC129935183, TTN +1 more (L26238P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2437429	NM_001267550.2(TTN):c.105907C>A (p.Leu35303Met)	LOC129935183, TTN +1 more (L26238M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108552	NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)	LOC129935183, TTN +1 more (K32734E +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1958450	NM_001267550.2(TTN):c.105903A>T (p.Ala35301=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2146336	NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)	LOC129935183, TTN +1 more (I26360T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2941951	NM_001267550.2(TTN):c.105898del (p.Ile35300fs)	LOC129935183, TTN +1 more (I26427fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 332684	NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)	LOC129935183, TTN +1 more (E35299D +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 2940840	NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)	LOC129935183, TTN +1 more (A33653V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1394376	NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly)	LOC129935183, TTN +1 more (A26229G +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1425222	NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr)	LOC129935183, TTN +1 more (A26229T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 167753	NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 661371	NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu)	LOC129935183, TTN +1 more (F26351L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1760938	NM_001267550.2(TTN):c.105867T>A (p.Thr35289=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1807521	NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)	LOC129935183, TTN +1 more (T26224A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1369829	NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr)	LOC129935183, TTN +1 more (I26348T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1008808	NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser)	LOC129935183, TTN +1 more (I26223S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1760935	NM_001267550.2(TTN):c.105858A>G (p.Pro35286=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2500877	NC_000002.12:g.178530764dup	LOC129935183, TTN +1 more (P26221fs +5 more)	Duplication (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 1760933	NM_001267550.2(TTN):c.105852C>T (p.Ala35284=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 286254	NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 466742	NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly)	LOC129935183, TTN +1 more (A35284G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 765532	NM_001267550.2(TTN):c.105849T>C (p.Ser35283=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 228180	NM_001267550.2(TTN):c.105843A>T (p.Pro35281=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223363	NM_001267550.2(TTN):c.105840C>A (p.Leu35280=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1506699	NM_001267550.2(TTN):c.105839T>A (p.Leu35280His)	LOC129935183, TTN +1 more (L26215H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 843118	NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe)	LOC129935183, TTN +1 more (L33639F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1053156	NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)	LOC129935183, TTN +1 more (Q26213H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2502434	NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)	LOC129935183, TTN +1 more (Q26213* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 1113830	NM_001267550.2(TTN):c.105831T>G (p.Val35277=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2949451	NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)	LOC129935183, TTN +1 more (V33636F +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1980482	NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)	LOC129935183, TTN +1 more (V26337I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1024531	NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp)	LOC129935183, TTN +1 more (E26210D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 203101	NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile)	LOC129935183, TTN +1 more (T33633I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 437089	NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln)	LOC129935183, TTN +1 more (P32705Q +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2034075	NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)	LOC129935183, TTN +1 more (P35273S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 752050	NM_001267550.2(TTN):c.105813A>C (p.Pro35271=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 425239	NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)	LOC129935183, TTN +1 more (P32703fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GLikely pathogenic
Select item 805701	NM_001267550.2(TTN):c.105806C>T (p.Thr35269Ile)	LOC129935183, TTN +1 more (T26396I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585300	NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)	LOC129935183, TTN +1 more (E35268fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 196656	NM_001267550.2(TTN):c.105805del (p.Thr35269fs)	LOC129935183, TTN +1 more (T32701fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1053440	NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys)	LOC129935183, TTN +1 more (E26203K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 2087052	NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)	LOC129935183, TTN +1 more (P26201S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1615841	NM_001267550.2(TTN):c.105792A>T (p.Val35264=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1066869	NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)	LOC129935183, TTN +1 more (S26200fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GLikely pathogenic
Select item 535113	NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu)	LOC129935183, TTN +1 more (V35264L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 511298	NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile)	LOC129935183, TTN +1 more (V33623I +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1624218	NM_001267550.2(TTN):c.105789C>T (p.Ala35263=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 202340	NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)	LOC129935183, TTN +1 more (A26198F +4 more)	Indel (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47701	NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	LOC129935183, TTN +1 more (A35263S +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 720525	NM_001267550.2(TTN):c.105783G>A (p.Pro35261=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 47700	NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)	LOC129935183, TTN +1 more (P35261L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 282979	NM_001267550.2(TTN):c.105781C>A (p.Pro35261Thr)	LOC129935183, TTN +1 more (P35261T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192195	NM_001267550.2(TTN):c.105781C>T (p.Pro35261Ser)	LOC129935183, TTN +1 more (P32693S +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 853932	NM_001267550.2(TTN):c.105780C>A (p.His35260Gln)	LOC129935183, TTN +1 more (H33619Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 512905	NM_001267550.2(TTN):c.105780C>T (p.His35260=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2004041	NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)	LOC129935183, TTN +1 more (H26320Y +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2574756	NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)	LOC129935183, TTN +1 more (P26193S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 332685	NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr)	LOC129935183, TTN +1 more (P35258T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 47699	NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)	LOC129935183, TTN +1 more (E35257K +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1908101	NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)	LOC129935183, TTN +1 more (P26185fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 2936388	NM_001267550.2(TTN):c.105765T>C (p.Ser35255=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 286984	NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)	LOC129935183, TTN +1 more (V35253M +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 203100	NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln)	LOC129935183, TTN +1 more (R33611Q +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 288511	NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)	LOC129935183, TTN +1 more (R35252* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 242529	NM_001267550.2(TTN):c.105753dup (p.Arg35252fs)	LOC129935183, TTN +1 more (R26187fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2938190	NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)	LOC129935183, TTN +1 more (P26377T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2442424	NM_001267550.2(TTN):c.105739G>C (p.Val35247Leu)	LOC129935183, TTN +1 more (V26182L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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