TTN-AS1[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 1262402	NC_000002.12:g.178525940A>G	TTN, TTN-AS1	Single nucleotide variant	not provided	GBenign
Select item 1342798	NC_000002.12:g.178525976A>C	TTN-AS1, TTN	Single nucleotide variant	not provided	GLikely benign
Select item 332662	NM_001267550.2(TTN):c.*1015A>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GConflicting classifications of pathogenicity
Select item 332663	NM_001267550.2(TTN):c.*968T>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Tibial muscular dystrophy +4 more	GUncertain significance
Select item 332664	NM_001267550.2(TTN):c.*919G>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Tibial muscular dystrophy +4 more	GUncertain significance
Select item 332665	NM_001267550.2(TTN):c.*913C>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 894547	NM_001267550.2(TTN):c.*898A>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 332666	NM_001267550.2(TTN):c.*664G>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 332667	NM_001267550.2(TTN):c.*636T>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 893121	NM_001267550.2(TTN):c.*633C>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 332668	NM_001267550.2(TTN):c.*623G>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Tibial muscular dystrophy +4 more	GUncertain significance
Select item 332669	NM_001267550.2(TTN):c.*587T>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 894175	NM_001267550.2(TTN):c.*504G>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 332670	NM_001267550.2(TTN):c.*280A>G	TTN-AS1, TTN	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 332671	NM_001267550.2(TTN):c.*274G>A	TTN-AS1, TTN	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GUncertain significance
Select item 332672	NM_001267550.2(TTN):c.*197C>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 893373	NM_001267550.2(TTN):c.*183A>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 893374	NM_001267550.2(TTN):c.*141T>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 332673	NM_001267550.2(TTN):c.*130G>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GBenign/Likely benign
Select item 332674	NM_001267550.2(TTN):c.*99dup	TTN-AS1, TTN	Duplication (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +7 more	GBenign/Likely benign
Select item 1204371	NM_001267550.2(TTN):c.*99del	TTN, TTN-AS1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 332675	NM_001267550.2(TTN):c.*59G>A	TTN-AS1, TTN	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 1214912	NM_001267550.2(TTN):c.*43C>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 332676	NM_001267550.2(TTN):c.*25C>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GConflicting classifications of pathogenicity
Select item 332677	NM_001267550.2(TTN):c.*6C>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 1534225	NM_001267550.2(TTN):c.107975A>G (p.Ter35992=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2437497	NM_001267550.2(TTN):c.107974T>C (p.Ter35992Gln)	TTN, TTN-AS1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 191803	NM_001267550.2(TTN):c.107971del (p.Ile35991fs)	TTN, TTN-AS1 (I26926fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2578875	NM_001267550.2(TTN):c.107965C>A (p.Arg35989=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 202530	NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter)	TTN, TTN-AS1 (R34348* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +5 more	GUncertain significance
Select item 178150	NM_001267550.2(TTN):c.107961T>C (p.His35987=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1938437	NM_001267550.2(TTN):c.107960A>G (p.His35987Arg)	TTN, TTN-AS1 (H27047R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 405041	NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)	TTN, TTN-AS1 (I35986T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 425238	NM_001267550.2(TTN):c.107956A>G (p.Ile35986Val)	TTN, TTN-AS1 (I35986V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622829	NM_001267550.2(TTN):c.107952G>A (p.Val35984=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2949498	NM_001267550.2(TTN):c.107949T>C (p.Thr35983=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2924459	NM_001267550.2(TTN):c.107947A>C (p.Thr35983Pro)	TTN, TTN-AS1 (T26918P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2005762	NM_001267550.2(TTN):c.107940C>T (p.Asp35980=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1387491	NM_001267550.2(TTN):c.107933G>A (p.Gly35978Glu)	TTN, TTN-AS1 (G27105E +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1495063	NM_001267550.2(TTN):c.107926G>T (p.Glu35976Ter)	TTN, TTN-AS1 (E26911* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1585458	NM_001267550.2(TTN):c.107925T>C (p.Asn35975=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2438149	NM_001267550.2(TTN):c.107920G>A (p.Gly35974Arg)	TTN, TTN-AS1 (G26909R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46575	NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)	TTN, TTN-AS1 (S35972I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 763442	NM_001267550.2(TTN):c.107913G>C (p.Leu35971=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1368774	NM_001267550.2(TTN):c.107911_107912del (p.Leu35971fs)	TTN, TTN-AS1 (L27098fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 862999	NM_001267550.2(TTN):c.107912T>A (p.Leu35971Gln)	TTN, TTN-AS1 (L27098Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1036246	NM_001267550.2(TTN):c.107909C>T (p.Thr35970Ile)	TTN, TTN-AS1 (T33402I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1386033	NM_001267550.2(TTN):c.107903T>G (p.Leu35968Arg)	TTN, TTN-AS1 (L26903R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 850701	NM_001267550.2(TTN):c.107903T>C (p.Leu35968Pro)	TTN, TTN-AS1 (L33400P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 535041	NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu)	TTN-AS1, TTN (G35967E +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2952361	NM_001267550.2(TTN):c.107898T>A (p.Gly35966=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 179634	NM_001267550.2(TTN):c.107897G>A (p.Gly35966Asp)	TTN, TTN-AS1 (G33398D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 38441	NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	TTN, TTN-AS1	Deletion (inframe_indel)	Tibial muscular dystrophy	GPathogenic
Select item 2429299	NM_001267550.2(TTN):c.107895T>C (p.Asp35965=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 284110	NM_001267550.2(TTN):c.107894A>G (p.Asp35965Gly)	TTN, TTN-AS1 (D33397G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 38440	NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	TTN, TTN-AS1 (Q33396* +5 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GPathogenic
Select item 1711511	NM_001267550.2(TTN):c.107883A>G (p.Val35961=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 535484	NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile)	TTN, TTN-AS1 (V35961I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1077879	NM_001267550.2(TTN):c.107880C>T (p.Asp35960=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1438050	NM_001267550.2(TTN):c.107875A>G (p.Met35959Val)	TTN, TTN-AS1 (M26894V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1761857	NM_001267550.2(TTN):c.107874C>T (p.Ile35958=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1708076	NM_001267550.2(TTN):c.107873T>A (p.Ile35958Asn)	TTN, TTN-AS1 (I26893N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 2949168	NM_001267550.2(TTN):c.107871C>G (p.Ile35957Met)	TTN, TTN-AS1 (I26892M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 698656	NM_001267550.2(TTN):c.107871C>T (p.Ile35957=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1997382	NM_001267550.2(TTN):c.107870T>C (p.Ile35957Thr)	TTN, TTN-AS1 (I27084T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952180	NM_001267550.2(TTN):c.107861_107869del (p.Thr35954_Leu35956del)	TTN, TTN-AS1	Deletion (inframe_deletion)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1002869	NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)	TTN, TTN-AS1 (I26892F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 242432	NM_001267550.1(TTN):c.107867del	TTN-AS1, TTN (L27016fs +5 more)	Deletion (frameshift variant)	Centronuclear myopathy	GLikely pathogenic
Select item 12653	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN, TTN-AS1 (L34315P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1399840	NM_001267550.2(TTN):c.107864C>A (p.Thr35955Asn)	TTN, TTN-AS1 (T35955N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 466774	NM_001267550.2(TTN):c.107864C>T (p.Thr35955Ile)	TTN, TTN-AS1 (T35955I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 203119	NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)	TTN, TTN-AS1 (L34312R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 2437894	NM_001267550.2(TTN):c.107851G>A (p.Asp35951Asn)	TTN, TTN-AS1 (D26886N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360057	NM_001267550.2(TTN):c.107851G>T (p.Asp35951Tyr)	TTN, TTN-AS1 (D35951Y +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1369859	NM_001267550.2(TTN):c.107842_107844dup (p.Glu35948dup)	TTN, TTN-AS1	Duplication (inframe_insertion)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1956012	NM_001267550.2(TTN):c.107844A>C (p.Glu35948Asp)	TTN, TTN-AS1 (E27075D +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1037495	NM_001267550.2(TTN):c.107701_107844del (p.Ala35901_Glu35948del)	TTN, TTN-AS1	Deletion (inframe_deletion)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 389846	NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser)	TTN, TTN-AS1 (I34306S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 56386	NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)	TTN, TTN-AS1 (I35947T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 12654	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	TTN-AS1, TTN (I33379N +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 466773	NM_001267550.2(TTN):c.107839A>G (p.Ile35947Val)	TTN-AS1, TTN (I35947V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1973921	NM_001267550.2(TTN):c.107838C>T (p.His35946=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 38438	NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)	TTN, TTN-AS1 (H33378P +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	Gnot provided
Select item 1045005	NM_001267550.2(TTN):c.107836C>T (p.His35946Tyr)	TTN, TTN-AS1 (H27073Y +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1496861	NM_001267550.2(TTN):c.107835C>G (p.Phe35945Leu)	TTN, TTN-AS1 (F35945L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 653902	NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)	TTN, TTN-AS1 (F27072I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 594280	NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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