ClinVar for Gene (Select 7140) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373470	NM_006757.4(TNNT3):c.69G>A (p.Glu23=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3356480	NM_006757.4(TNNT3):c.466A>G (p.Ser156Gly)	TNNT3 (S137G +8 more)	Single nucleotide variant (missense variant)	TNNT3-related disorder	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3234954	NM_006757.4(TNNT3):c.37T>C (p.Tyr13His)	TNNT3 (Y13H)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 2B2	GUncertain significance
Select item 3061940	NM_006757.4(TNNT3):c.299G>A (p.Arg100His)	TNNT3 (R100H +8 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B2	GUncertain significance
Select item 3053986	NM_006757.4(TNNT3):c.682-717G>C	TNNT3	Single nucleotide variant (synonymous variant +1 more)	TNNT3-related disorder	GLikely benign
Select item 3048340	NM_006757.4(TNNT3):c.67+130C>T	TNNT3	Single nucleotide variant (intron variant)	TNNT3-related disorder	GLikely benign
Select item 3022988	NM_006757.4(TNNT3):c.106+20G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014151	NM_006757.4(TNNT3):c.82+5G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3011046	NM_006757.4(TNNT3):c.268G>A (p.Val90Ile)	TNNT3 (V101I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002635	NM_006757.4(TNNT3):c.590+15T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998162	NM_006757.4(TNNT3):c.49+19G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996284	NM_006757.4(TNNT3):c.336G>A (p.Glu112=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992823	NM_006757.4(TNNT3):c.82+16C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985750	NM_006757.4(TNNT3):c.288C>T (p.Ile96=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2979059	NM_006757.4(TNNT3):c.745G>A (p.Ala249Thr)	TNNT3 (A247T +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979039	NM_006757.4(TNNT3):c.554C>T (p.Pro185Leu)	TNNT3 (P166L +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978896	NM_006757.4(TNNT3):c.722+15C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974434	NM_006757.4(TNNT3):c.126-8C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2974047	NM_006757.4(TNNT3):c.249G>A (p.Lys83=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968159	NM_006757.4(TNNT3):c.49+18C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957111	NM_006757.4(TNNT3):c.83-20T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954959	NM_006757.4(TNNT3):c.496G>C (p.Gly166Arg)	TNNT3 (G147R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954722	NM_006757.4(TNNT3):c.100G>A (p.Ala34Thr)	TNNT3 (A45T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2918449	NM_006757.4(TNNT3):c.82+4C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910257	NM_006757.4(TNNT3):c.681+1G>A	TNNT3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2890234	NM_006757.4(TNNT3):c.106+8C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2877710	NM_006757.4(TNNT3):c.126-13G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872526	NM_006757.4(TNNT3):c.41A>G (p.Glu14Gly)	TNNT3 (E14G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872525	NM_006757.4(TNNT3):c.32-11_32-10delinsAA	TNNT3	Indel (intron variant)	not provided	GUncertain significance
Select item 2851716	NM_006757.4(TNNT3):c.681+7C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844540	NM_006757.4(TNNT3):c.11A>T (p.Glu4Val)	TNNT3 (E4V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834220	NM_006757.4(TNNT3):c.552G>A (p.Lys184=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805208	NM_006757.4(TNNT3):c.682-2A>G	TNNT3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2796581	NM_006757.4(TNNT3):c.309_310del (p.Arg103fs)	TNNT3 (R84fs +8 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2796185	NM_006757.4(TNNT3):c.702C>A (p.Arg234=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783975	NM_006757.4(TNNT3):c.32-3C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2777970	NM_006757.4(TNNT3):c.481-7G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777196	NM_006757.4(TNNT3):c.288+20T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731681	NM_006757.4(TNNT3):c.228C>T (p.Asp76=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2631313	NM_006757.4(TNNT3):c.508A>G (p.Thr170Ala)	TNNT3 (T102A +8 more)	Single nucleotide variant (missense variant)	TNNT3-related disorder	GUncertain significance
Select item 2511035	NM_006757.4(TNNT3):c.116C>T (p.Pro39Leu)	TNNT3 (P20L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2502047	NM_006757.4(TNNT3):c.277A>C (p.Lys93Gln)	TNNT3 (K104Q +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489251	NM_006757.4(TNNT3):c.394G>T (p.Asp132Tyr)	TNNT3 (D135Y +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2424318	NC_000011.9:g.(?_1774733)_(2019125_?)dup	CTSD, H19 +5 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2331306	NM_006757.4(TNNT3):c.547C>T (p.Arg183Cys)	TNNT3 (R164C +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2301314	NM_006757.4(TNNT3):c.341A>G (p.Glu114Gly)	TNNT3 (E110G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283510	NM_006757.4(TNNT3):c.335A>T (p.Glu112Val)	TNNT3 (E104V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196818	NM_006757.4(TNNT3):c.302C>A (p.Ala101Glu)	TNNT3 (A100E +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192418	NM_006757.4(TNNT3):c.8A>T (p.Asp3Val)	TNNT3 (D3V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2168799	NM_006757.4(TNNT3):c.39C>T (p.Tyr13=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168723	NM_006757.4(TNNT3):c.481-8C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2152602	NM_006757.4(TNNT3):c.312G>A (p.Ala104=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126762	NM_006757.4(TNNT3):c.253G>A (p.Glu85Lys)	TNNT3 (E84K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110889	NM_006757.4(TNNT3):c.718A>G (p.Lys240Glu)	TNNT3 (K232E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2106781	NM_006757.4(TNNT3):c.704T>C (p.Ile235Thr)	TNNT3 (I234T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085368	NM_006757.4(TNNT3):c.246G>A (p.Arg82=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079324	NM_006757.4(TNNT3):c.722+5G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2042813	NM_006757.4(TNNT3):c.206T>C (p.Met69Thr)	TNNT3 (M50T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2032832	NM_006757.4(TNNT3):c.18-1G>T	TNNT3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2029427	NM_006757.4(TNNT3):c.218C>A (p.Ala73Asp)	TNNT3 (A5D +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022796	NM_006757.4(TNNT3):c.682-13A>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017438	NM_006757.4(TNNT3):c.267G>T (p.Leu89=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013470	NM_006757.4(TNNT3):c.31+15C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001093	NM_006757.4(TNNT3):c.434A>C (p.Lys145Thr)	TNNT3 (K126T +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983548	NM_006757.4(TNNT3):c.226G>A (p.Asp76Asn)	TNNT3 (D68N +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971751	NM_006757.4(TNNT3):c.106+17G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959859	NM_006757.4(TNNT3):c.723-15G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957712	NM_006757.4(TNNT3):c.295C>T (p.Arg99Cys)	TNNT3 (R102C +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947388	NM_006757.4(TNNT3):c.668G>A (p.Arg223His)	TNNT3 (R155H +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946164	NM_006757.4(TNNT3):c.39C>A (p.Tyr13Ter)	TNNT3 (Y13*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1943508	NM_006757.4(TNNT3):c.288+1G>A	TNNT3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1941647	NM_006757.4(TNNT3):c.700C>T (p.Arg234Cys)	TNNT3 (R245C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941287	NM_006757.4(TNNT3):c.67+13C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937750	NM_006757.4(TNNT3):c.225C>G (p.Ile75Met)	TNNT3 (I56M +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936415	NM_006757.4(TNNT3):c.337_339del (p.Lys113del)	TNNT3 (K105del +8 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1934178	NM_006757.4(TNNT3):c.481-2A>G	TNNT3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1933742	NM_006757.4(TNNT3):c.617C>T (p.Thr206Ile)	TNNT3 (T198I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921744	NM_006757.4(TNNT3):c.271G>A (p.Ala91Thr)	TNNT3 (A23T +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921574	NM_006757.4(TNNT3):c.68-2A>G	TNNT3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1921330	NM_006757.4(TNNT3):c.126-20C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917354	NM_006757.4(TNNT3):c.107-20G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916630	NM_006757.4(TNNT3):c.591-15C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909668	NM_006757.4(TNNT3):c.82+11G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909595	NM_006757.4(TNNT3):c.505C>G (p.Gln169Glu)	TNNT3 (Q167E +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906839	NM_006757.4(TNNT3):c.125+9G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904843	NM_006757.4(TNNT3):c.171+14A>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904002	NM_006757.4(TNNT3):c.590+12G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900836	NM_006757.4(TNNT3):c.82+16C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1800644	NM_006757.4(TNNT3):c.175A>T (p.Ile59Phe)	TNNT3 (I40F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1703675	GRCh37/hg19 11p15.5(chr11:1621232-2228572)	CTSD, H19 +15 more	Copy number gain	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1685180	NM_006757.4(TNNT3):c.50-9G>A	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1673181	NM_006757.4(TNNT3):c.67+12C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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