ClinVar for Gene (Select 7138) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180535	NM_003283.6(TNNT1):c.211A>T (p.Met71Leu)	LOC130065089, TNNT1 (M71L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180534	NM_003283.6(TNNT1):c.136G>T (p.Val46Leu)	TNNT1 (V35L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032992	NM_003283.6(TNNT1):c.31G>A (p.Glu11Lys)	TNNT1 (E11K)	Single nucleotide variant (missense variant)	TNNT1-related condition	GBenign
Select item 3014714	NM_003283.6(TNNT1):c.435G>A (p.Glu145=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2985884	NM_003283.6(TNNT1):c.792-12A>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2977363	NM_003283.6(TNNT1):c.798G>A (p.Lys266=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2974354	NM_003283.6(TNNT1):c.47-18C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2919904	NM_003283.6(TNNT1):c.42G>A (p.Pro14=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2909315	NM_003283.6(TNNT1):c.408A>G (p.Glu136=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2905802	NM_003283.6(TNNT1):c.74-9C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2903695	NM_003283.6(TNNT1):c.6G>C (p.Ser2=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2883158	NM_003283.6(TNNT1):c.310-18T>C	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2870627	NM_003283.6(TNNT1):c.74-7_74-4del	TNNT1	Deletion (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2858894	NM_003283.6(TNNT1):c.33-1G>A	TNNT1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 2851787	NM_003283.6(TNNT1):c.74-18C>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2849359	NM_003283.6(TNNT1):c.168A>G (p.Pro56=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2817743	NM_003283.6(TNNT1):c.751-6C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2810058	NM_003283.6(TNNT1):c.387+14_387+19del	TNNT1	Deletion (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2800926	NM_003283.6(TNNT1):c.388-16C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2752002	NM_003283.6(TNNT1):c.54T>G (p.Ala18=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2733228	NM_003283.6(TNNT1):c.751-8del	TNNT1	Deletion (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2727302	NM_003283.6(TNNT1):c.822A>T (p.Gly274=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2719610	NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys)	TNNT1 (E101K +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2715631	NM_003283.6(TNNT1):c.107-9C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2693738	NM_003283.6(TNNT1):c.502-16C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2690245	NM_003283.6(TNNT1):c.20_32+2dup	TNNT1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664155	NM_003283.6(TNNT1):c.272_281del (p.Lys91fs)	TNNT1 (K80fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 5 +1 more	GLikely pathogenic
Select item 2650513	NM_003283.6(TNNT1):c.258C>T (p.Phe86=)	TNNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624237	NM_003283.6(TNNT1):c.178C>T (p.Arg60Cys)	TNNT1 (R49C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556027	NM_003283.6(TNNT1):c.91C>T (p.Pro31Ser)	TNNT1 (P31S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550075	NM_003283.6(TNNT1):c.256T>C (p.Phe86Leu)	TNNT1 (F86L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503501	NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala)	LOC130065089, TNNT1 (D65A +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5C, autosomal dominant	GPathogenic
Select item 2503499	NM_003283.6(TNNT1):c.724G>C (p.Ala242Pro)	TNNT1 (A215P +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5B, autosomal recessive, childhood-onset	GPathogenic
Select item 2503498	NM_003283.6(TNNT1):c.287T>C (p.Leu96Pro)	TNNT1 (L96P +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5B, autosomal recessive, childhood-onset	GPathogenic
Select item 2503497	NM_003283.6(TNNT1):c.611+1G>A	TNNT1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 5B, autosomal recessive, childhood-onset	GPathogenic
Select item 2503496	NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)	TNNT1	Single nucleotide variant (nonsense)	Nemaline myopathy 5	GPathogenic
Select item 2503494	NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter)	TNNT1 (E112* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 5	GPathogenic
Select item 2503493	NC_000019.10:g.(?_55132793)_(55132961_55133886)del	TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 2500959	NM_003283.6(TNNT1):c.74-67C>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 2500958	NM_003283.6(TNNT1):c.192+2dup	TNNT1	Duplication (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2437139	NM_003283.6(TNNT1):c.524G>A (p.Arg175Gln)	TNNT1 (R164Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437138	NM_003283.6(TNNT1):c.518G>A (p.Gly173Asp)	TNNT1 (G162D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437137	NM_003283.6(TNNT1):c.386C>T (p.Ala129Val)	TNNT1 (A118V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434186	NM_003283.6(TNNT1):c.32+1G>A	TNNT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2424667	NC_000019.9:g.(?_55644283)_(55668957_?)dup	TNNI3, TNNT1	Duplication	Nemaline myopathy 5	GUncertain significance
Select item 2424027	NC_000019.9:g.(?_55644283)_(55678016_?)del	DNAAF3, TNNI3 +1 more	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2421496	NM_003283.6(TNNT1):c.726G>A (p.Ala242=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2419825	NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)	TNNT1 (S207P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2416974	NM_003283.6(TNNT1):c.106+18G>C	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2416119	NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys)	TNNT1 (R123K +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2201228	NM_003283.6(TNNT1):c.696G>A (p.Gln232=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2197549	NM_003283.6(TNNT1):c.193-14C>T	LOC130065089, TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2196931	NM_003283.6(TNNT1):c.336G>A (p.Glu112=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2188902	NM_003283.6(TNNT1):c.180C>T (p.Arg60=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2185393	NM_003283.6(TNNT1):c.129-16_129-15del	TNNT1	Microsatellite (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2176671	NM_003283.6(TNNT1):c.531G>A (p.Thr177=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2170536	NM_003283.6(TNNT1):c.309+15C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2166246	NM_003283.6(TNNT1):c.611+11T>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2166245	NM_003283.6(TNNT1):c.611+20C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2159812	NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly)	TNNT1 (R206G)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5	GUncertain significance
Select item 2157946	NM_003283.6(TNNT1):c.192+9C>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2152986	NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys)	TNNT1 (R161C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2151068	NM_003283.6(TNNT1):c.309+15C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2148905	NM_003283.6(TNNT1):c.107-12C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2140527	NM_003283.6(TNNT1):c.107-10C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2132700	NM_003283.6(TNNT1):c.388-3C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GUncertain significance
Select item 2130058	NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu)	TNNT1 (D53E +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2114181	NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn)	TNNT1 (K191N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2104989	NM_003283.6(TNNT1):c.61dup (p.Glu21fs)	TNNT1 (E21fs)	Duplication (frameshift variant)	Nemaline myopathy 5	GPathogenic
Select item 2091102	NM_003283.6(TNNT1):c.387+13C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2073560	NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)	TNNT1 (R143Q +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2073409	NM_003283.6(TNNT1):c.642G>A (p.Gln214=)	TNNT1	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 5	GLikely benign
Select item 2069922	NM_003283.6(TNNT1):c.46+6T>C	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GUncertain significance
Select item 2069456	NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp)	TNNT1 (R193W +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2068713	NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg)	TNNT1 (P49R +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2065451	NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser)	TNNT1 (R39S +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 2063840	NM_003283.6(TNNT1):c.47-11C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2058846	NM_003283.6(TNNT1):c.309+19T>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2048542	NM_003283.6(TNNT1):c.502-18C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2048277	NM_003283.6(TNNT1):c.128+20G>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2041071	NM_003283.6(TNNT1):c.135C>G (p.Pro45=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 2038805	NM_003283.6(TNNT1):c.46+10G>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 2018706	NM_003283.6(TNNT1):c.502-9dup	TNNT1	Duplication (intron variant)	Nemaline myopathy 5	GBenign
Select item 2010722	NM_003283.6(TNNT1):c.310-2A>T	TNNT1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 2004473	NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)	TNNT1 (W209*)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 5	GPathogenic
Select item 1993055	NM_003283.6(TNNT1):c.33-12A>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1980825	NM_003283.6(TNNT1):c.327G>A (p.Glu109=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1974867	NM_003283.6(TNNT1):c.609C>G (p.Leu203=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1971264	NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp)	TNNT1 (Y186D +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1969989	NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn)	TNNT1 (D239N +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1969661	NM_003283.6(TNNT1):c.612-15C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1968314	NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg)	TNNT1 (G240R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1967208	NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile)	TNNT1 (K218I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1963287	NM_003283.6(TNNT1):c.78C>T (p.Pro26=)	TNNT1	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 5	GLikely benign
Select item 1943912	NM_003283.6(TNNT1):c.193-3C>T	LOC130065089, TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GUncertain significance
Select item 1932203	NM_003283.6(TNNT1):c.123A>G (p.Lys41=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1918842	NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr)	TNNT1 (I195T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1912909	NM_003283.6(TNNT1):c.129-16G>C	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1912379	NM_003283.6(TNNT1):c.611+20C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign

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