salih skvortsovii - ClinVar - NCBI

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The following term was not found in ClinVar: skvortsovii.
Showing results for Salix skvortsovii. Your search for Salix skvortsovii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560108	Single allele	LOC126806420, LOC126806421 +12 more	Deletion	Dilated cardiomyopathy 1G	GLikely pathogenic
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 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 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 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 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 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 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 1043872	NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)	TTN, TTN-AS1 (G34292R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 12652	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN, TTN-AS1	Indel (missense variant)	Dilated cardiomyopathy 1G +6 more	GPathogenic
Select item 281698	NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu)	TTN-AS1, TTN (V35928E +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 46574	NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 212459	NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)	TTN, TTN-AS1 (E33342K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1007868	NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)	TTN, TTN-AS1 (I26843T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 47723	NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 220650	NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 1573441	NM_001267550.2(TTN):c.107681-18dup	TTN, TTN-AS1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 262345	NM_001267550.2(TTN):c.107681-46T>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +14 more	GConflicting classifications of pathogenicity
Select item 595450	NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer)	TTN-AS1, TTN	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 47722	NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)	TTN, TTN-AS1 (S35869G +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 518510	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN, TTN-AS1 (Q26795* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GPathogenic/Likely pathogenic
Select item 47720	NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	TTN-AS1, TTN (M35859T +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 466768	NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile)	TTN, TTN-AS1 (S35855I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1058998	NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr)	TTN, TTN-AS1 (M26778T +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 281477	NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)	TTN, TTN-AS1 (S35817L +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 137821	NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 501189	NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser)	TTN, TTN-AS1 (P33230S +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 178151	NM_001267550.2(TTN):c.107377+14C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 949939	NM_001267550.2(TTN):c.107377+1G>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 196723	NM_001267550.2(TTN):c.107377+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 382175	NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 2502431	NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)	TTN, TTN-AS1 (Q26717* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 203115	NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)	TTN, TTN-AS1 (R34139H +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 534983	NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)	TTN, TTN-AS1 (A35764S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 47718	NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)	TTN, TTN-AS1 (V35756A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 894272	NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 2572411	NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)	TTN, TTN-AS1 (N26653fs +5 more)	Duplication (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 203112	NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)	TTN, TTN-AS1 (P34061L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 191806	NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)	TTN, TTN-AS1 (E33129Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 180004	NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 238701	NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)	TTN, TTN-AS1 (L35694V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 332678	NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu)	TTN, TTN-AS1 (Q33098E +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 282856	NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp)	TTN, TTN-AS1 (Y35653D +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 47717	NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)	TTN, TTN-AS1 (R35652Q +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 203108	NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)	TTN, TTN-AS1 (V34002I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 332679	NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 47716	NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 853395	NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro)	TTN, TTN-AS1 (L26700P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1434094	NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)	TTN, TTN-AS1 (V26571M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 178152	NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)	TTN, TTN-AS1 (L33058V +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 47715	NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GBenign/Likely benign
Select item 47714	NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)	TTN, TTN-AS1 (S35613A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 1297550	NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu)	TTN, TTN-AS1 (K26545E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 179036	NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)	TTN, TTN-AS1 (A33039V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47713	NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 47712	NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)	TTN, TTN-AS1 (T35596I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1059450	NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)	TTN, TTN-AS1 (H26525R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 332680	NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)	TTN, TTN-AS1 (E33007K +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GUncertain significance
Select item 2502432	NM_001267550.2(TTN):c.106698del (p.Ala35567fs)	TTN, TTN-AS1 (A26502fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 192135	NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	TTN, TTN-AS1 (E32991Q +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 12660	TTN:c.106668delA (p.Lys35556Argfs)	TTN, TTN-AS1 (K35556fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 47711	NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 223305	NM_001267550.2(TTN):c.106629del (p.Ala35544fs)	TTN, TTN-AS1 (A26479fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 47710	NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)	TTN-AS1, TTN (I35540T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GBenign/Likely benign
Select item 915801	NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)	TTN, TTN-AS1 (E26462V +5 more)	Indel (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 47709	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	TTN, TTN-AS1 (E35527V +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 47708	NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 1064523	NM_001267550.2(TTN):c.106541del (p.Asp35514fs)	TTN, TTN-AS1 (D26449fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 47706	NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +9 more	GBenign/Likely benign
Select item 284002	NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)	TTN-AS1, TTN (K32913R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 265825	NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)	TTN, TTN-AS1 (L35468H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 586862	NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)	TTN, TTN-AS1 (G35463A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 191809	NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)	TTN, TTN-AS1 (R32880Q +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 332681	NM_001267550.2(TTN):c.106293T>C (p.Val35431=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 47704	NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 203105	NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe)	TTN, TTN-AS1 (V33782F +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 855722	NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser)	TTN, TTN-AS1 (P35420S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 242430	NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)	LOC129935182, TTN +1 more (K35385T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 332682	NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)	LOC129935182, TTN +1 more (E35356K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 503763	NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	LOC129935182, TTN +1 more (T26410fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +6 more	GLikely pathogenic

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