TNNT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 1212518	NC_000019.10:g.55132607C>G	TNNT1	Single nucleotide variant	not provided	GLikely benign
Select item 1177785	NM_003283.6(TNNT1):c.*160C>G	TNNT1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 893672	NM_003283.6(TNNT1):c.*129C>G	TNNT1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 5	GUncertain significance
Select item 893673	NM_003283.6(TNNT1):c.*110T>C	TNNT1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 5	GUncertain significance
Select item 259028	NM_003283.6(TNNT1):c.*12C>T	TNNT1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 772350	NM_003283.6(TNNT1):c.834G>A (p.Lys278=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1028592	NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys)	TNNT1 (R249C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
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 1419069	NM_003283.6(TNNT1):c.817G>A (p.Val273Ile)	TNNT1 (V246I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1660293	NM_003283.6(TNNT1):c.816C>T (p.Arg272=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1403279	NM_003283.6(TNNT1):c.815G>A (p.Arg272His)	TNNT1 (R245H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1614241	NM_003283.6(TNNT1):c.804A>C (p.Ala268=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1583201	NM_003283.6(TNNT1):c.804A>G (p.Ala268=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 465999	NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr)	TNNT1 (A268T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
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 2977363	NM_003283.6(TNNT1):c.798G>A (p.Lys266=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 167736	NM_003283.6(TNNT1):c.795= (p.Arg265=)	TNNT1	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign
Select item 31857	NM_003283.6(TNNT1):c.795G>T (p.Arg265=)	TNNT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1503800	NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp)	TNNT1 (R238W +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 465998	NM_003283.6(TNNT1):c.792-2A>G	TNNT1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 1902178	NM_003283.6(TNNT1):c.792-6C>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GUncertain significance
Select item 2985884	NM_003283.6(TNNT1):c.792-12A>G	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1204064	NM_003283.6(TNNT1):c.792-111G>T	TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31858	NM_003283.6(TNNT1):c.792-114C>T	TNNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213037	NM_003283.6(TNNT1):c.792-214A>C	TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196323	NM_003283.6(TNNT1):c.792-243C>T	TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31859	NM_003283.6(TNNT1):c.792-278C>A	TNNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295837	NM_003283.6(TNNT1):c.791+192dup	TNNT1	Duplication (intron variant)	not provided	GBenign
Select item 1246905	NM_003283.6(TNNT1):c.791+206del	TNNT1	Deletion (intron variant)	not provided	GBenign
Select item 1196081	NM_003283.6(TNNT1):c.791+206T>A	TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626273	NM_003283.6(TNNT1):c.791+13G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 330190	NM_003283.6(TNNT1):c.791+12C>T	TNNT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 534400	NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg)	TNNT1 (K263R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 465997	NM_003283.6(TNNT1):c.780C>T (p.His260=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GBenign
Select item 1423671	NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys)	TNNT1 (R230C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 645348	NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys)	TNNT1 (Y228C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 330191	NM_003283.6(TNNT1):c.757G>A (p.Val253Met)	TNNT1 (V253M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1127859	NM_003283.6(TNNT1):c.756C>T (p.Asn252=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1566643	NM_003283.6(TNNT1):c.751-4G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 259035	NM_003283.6(TNNT1):c.751-5C>T	TNNT1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2817743	NM_003283.6(TNNT1):c.751-6C>G	TNNT1	Single nucleotide variant (intron 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 1534705	NM_003283.6(TNNT1):c.751-16T>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 259033	NM_003283.6(TNNT1):c.751-16T>C	TNNT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 259034	NM_003283.6(TNNT1):c.751-42_751-35del	TNNT1	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 1296197	NM_003283.6(TNNT1):c.751-42G>A	TNNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1564317	NM_003283.6(TNNT1):c.750+16G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 330192	NM_003283.6(TNNT1):c.750+15C>T	TNNT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1624245	NM_003283.6(TNNT1):c.747T>C (p.Tyr249=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1713944	NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys)	TNNT1 (Y222C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1878625	NM_003283.6(TNNT1):c.742A>T (p.Lys248Ter)	TNNT1 (K221* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 5	GLikely pathogenic
Select item 872190	NM_003283.6(TNNT1):c.739C>T (p.Gln247Ter)	TNNT1 (Q220* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2421496	NM_003283.6(TNNT1):c.726G>A (p.Ala242=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 534402	NM_003283.6(TNNT1):c.725C>T (p.Ala242Val)	TNNT1 (A242V +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
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 962709	NM_003283.6(TNNT1):c.723G>A (p.Met241Ile)	TNNT1 (M241I +2 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 1148581	NM_003283.6(TNNT1):c.714C>T (p.Phe238=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 962593	NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn)	TNNT1 (K221N +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance
Select item 1524706	NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys)	TNNT1 (E207K +2 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 949099	NM_003283.6(TNNT1):c.695dup (p.Leu233fs)	TNNT1 (L233fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 5	GPathogenic
Select item 1639092	NM_003283.6(TNNT1):c.681G>A (p.Ser227=)	TNNT1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 5	GLikely benign
Select item 1515978	NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp)	TNNT1 (R220W)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5	GUncertain significance
Select item 859097	NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg)	TNNT1 (P218R)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5	GUncertain significance
Select item 1465343	NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys)	TNNT1 (S216C)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 1502055	NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu)	TNNT1 (P215L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1346756	NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg)	TNNT1 (Q214R)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5	GUncertain significance
Select item 656953	NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr)	TNNT1 (P211T)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5	GUncertain significance
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 2419825	NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)	TNNT1 (S207P)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 1099301	NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln)	TNNT1 (R206Q)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5 +1 more	GConflicting classifications of pathogenicity
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 1380433	NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp)	TNNT1 (R206W)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 5	GUncertain significance
Select item 1141677	NM_003283.6(TNNT1):c.612-4C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1505902	NM_003283.6(TNNT1):c.612-14G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1969661	NM_003283.6(TNNT1):c.612-15C>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GLikely benign
Select item 1186655	NM_003283.6(TNNT1):c.612-216G>A	TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677633	NM_003283.6(TNNT1):c.612-228A>G	TNNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181845	NM_003283.6(TNNT1):c.612-288G>T	TNNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31860	NM_003283.6(TNNT1):c.611+201C>T	TNNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2166245	NM_003283.6(TNNT1):c.611+20C>G	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
Select item 388590	NM_003283.6(TNNT1):c.611+12G>A	TNNT1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 330193	NM_003283.6(TNNT1):c.611+12G>T	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5	GConflicting classifications of pathogenicity

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