ClinVar for Gene (Select 7136) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359802	NM_003282.4(TNNI2):c.541G>A (p.Glu181Lys)	TNNI2 (E181K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354177	NM_003282.4(TNNI2):c.153G>A (p.Pro51=)	TNNI2	Single nucleotide variant (synonymous variant)	TNNI2-related disorder	GLikely benign
Select item 3327649	NM_003282.4(TNNI2):c.386C>T (p.Ser129Leu)	TNNI2 (S129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3180529	NM_003282.4(TNNI2):c.503A>T (p.Lys168Met)	TNNI2 (K168M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180528	NM_003282.4(TNNI2):c.41G>A (p.Arg14His)	TNNI2 (R14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180527	NM_003282.4(TNNI2):c.211A>C (p.Lys71Gln)	TNNI2 (K71Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064439	NM_003282.4(TNNI2):c.486G>T (p.Arg162Ser)	TNNI2 (R162S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 3035925	NM_003282.4(TNNI2):c.312G>T (p.Arg104=)	TNNI2	Single nucleotide variant (synonymous variant)	TNNI2-related disorder	GLikely benign
Select item 3024260	NM_003282.4(TNNI2):c.454-2A>G	TNNI2	Single nucleotide variant (splice acceptor variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
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 2613413	NM_003282.4(TNNI2):c.505T>A (p.Ser169Thr)	TNNI2 (S169T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570221	NM_003282.4(TNNI2):c.217G>C (p.Asp73His)	TNNI2 (D73H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554714	NM_003282.4(TNNI2):c.115G>A (p.Ala39Thr)	TNNI2 (A39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506365	NM_003282.4(TNNI2):c.496G>T (p.Glu166Ter)	TNNI2 (E166*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 2505679	NM_003282.4(TNNI2):c.326G>A (p.Arg109Gln)	TNNI2 (R109Q)	Single nucleotide variant (missense variant)	not provided	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 2437135	NM_003282.4(TNNI2):c.275_276+1del	TNNI2	Microsatellite (splice donor variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 2434182	NM_003282.4(TNNI2):c.503_505dup (p.Ser169Ter)	TNNI2 (S169*)	Duplication (nonsense)	Distal arthrogryposis type 2B1	GLikely pathogenic
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 2412922	NM_003282.4(TNNI2):c.347G>A (p.Arg116His)	TNNI2 (R116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405849	NM_003282.4(TNNI2):c.107G>A (p.Arg36His)	TNNI2 (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403059	NM_003282.4(TNNI2):c.110G>A (p.Arg37His)	TNNI2 (R37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326668	NM_003282.4(TNNI2):c.160A>G (p.Ile54Val)	TNNI2 (I54V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243431	NM_003282.4(TNNI2):c.163C>T (p.Pro55Ser)	TNNI2 (P55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1708947	NM_003282.4(TNNI2):c.9-1G>C	TNNI2	Single nucleotide variant (splice acceptor variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1707817	NM_003282.4(TNNI2):c.421C>G (p.Leu141Val)	TNNI2 (L141V)	Single nucleotide variant (missense variant)	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 1683605	NM_003282.4(TNNI2):c.368T>C (p.Leu123Pro)	TNNI2 (L123P)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1340828	GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3	ASCL2, C11orf21 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1333897	NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)	TNNI2 (R174W)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 1326277	NM_003282.4(TNNI2):c.532T>A (p.Phe178Ile)	TNNI2 (F178I)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1306536	NM_003282.4(TNNI2):c.472G>A (p.Val158Met)	TNNI2 (V158M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1303224	NM_003282.4(TNNI2):c.221C>T (p.Ala74Val)	TNNI2 (A74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303135	NM_003282.4(TNNI2):c.136del (p.Ala46fs)	TNNI2 (A46fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1296191	NC_000011.10:g.1841786C>T	TNNI2	Single nucleotide variant	not provided	GBenign
Select item 1231135	NM_003282.4(TNNI2):c.-23+41G>A	TNNI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228964	NM_003282.4(TNNI2):c.-23+161G>C	TNNI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220121	NM_003282.4(TNNI2):c.453+42G>A	TNNI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219195	NM_003282.4(TNNI2):c.454-21C>T	TNNI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212076	NM_003282.4(TNNI2):c.316A>G (p.Lys106Glu)	TNNI2 (K106E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1201934	NM_003282.4(TNNI2):c.306T>C (p.Asp102=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1198378	NM_003282.4(TNNI2):c.*19G>T	TNNI2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1195508	NM_003282.4(TNNI2):c.36G>A (p.Thr12=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1194584	NM_003282.4(TNNI2):c.83C>T (p.Thr28Met)	TNNI2 (T28M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1186385	NM_003282.4(TNNI2):c.-22-267C>T	TNNI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +45 more	Duplication	Immunodeficiency 39 +1 more	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	TNNT3, ASCL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 975914	NM_003282.4(TNNI2):c.530T>C (p.Met177Thr)	TNNI2 (M177T)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 879927	NM_003282.4(TNNI2):c.276+12C>T	TNNI2	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 879570	NM_003282.4(TNNI2):c.171C>A (p.Ser57=)	TNNI2	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 877951	NM_003282.4(TNNI2):c.-68C>T	TNNI2	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 792354	NM_003282.4(TNNI2):c.264G>A (p.Lys88=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740610	NM_003282.4(TNNI2):c.33C>T (p.Ile11=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713576	NM_003282.4(TNNI2):c.540C>T (p.Ser180=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707774	NM_003282.4(TNNI2):c.357C>T (p.Ala119=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 703308	NM_003282.4(TNNI2):c.438G>A (p.Lys146=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694070	NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe)	TNNI2 (I165F)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GPathogenic
Select item 682596	NM_003282.4(TNNI2):c.324G>A (p.Lys108=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 671882	NM_003282.4(TNNI2):c.16-15_16-9del	LOC130005124, TNNI2	Deletion (intron variant)	not provided	GLikely benign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 546655	NM_003282.4(TNNI2):c.118G>C (p.Glu40Gln)	TNNI2 (E40Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517104	NM_003282.4(TNNI2):c.453+3G>A	TNNI2	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +1 more	GBenign
Select item 513805	NM_003282.4(TNNI2):c.58-4G>A	TNNI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512393	NM_003282.4(TNNI2):c.15+8G>C	TNNI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512348	NM_003282.4(TNNI2):c.423G>C (p.Leu141=)	TNNI2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 511889	NM_003282.4(TNNI2):c.-23+19C>T	TNNI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 511124	NM_003282.4(TNNI2):c.8+16G>A	TNNI2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 511100	NM_003282.4(TNNI2):c.277-15C>T	TNNI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 498123	NM_003282.4(TNNI2):c.3G>A (p.Met1Ile)	TNNI2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441567	GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3	CTSD, H19 +12 more	Copy number gain	See cases	GUncertain significance
Select item 429720	NM_003282.4(TNNI2):c.190C>T (p.Leu64Phe)	TNNI2 (L64F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 388967	NM_003282.4(TNNI2):c.-23+14C>T	TNNI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 374417	NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del)	TNNI2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 303943	NM_003282.4(TNNI2):c.*94C>T	TNNI2	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +2 more	GBenign/Likely benign
Select item 303942	NM_003282.4(TNNI2):c.*28G>A	TNNI2	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 303941	NM_003282.4(TNNI2):c.*27C>T	TNNI2	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 303940	NM_003282.4(TNNI2):c.387G>A (p.Ser129=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303939	NM_003282.4(TNNI2):c.276+15C>T	TNNI2	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 303938	NM_003282.4(TNNI2):c.216C>T (p.Ile72=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303937	NM_003282.4(TNNI2):c.159T>C (p.His53=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance

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