"GeneDx"[submitter] AND "LOC126806426"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 332848	NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 682088	NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile)	LOC126806426, TTN +1 more (V16405I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 202675	NM_001267550.2(TTN):c.49201C>G (p.Leu16401Val)	LOC126806426, TTN +1 more (L14760V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 202674	NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr)	LOC126806426, TTN +1 more (A14751T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 195636	NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)	LOC126806426, TTN +1 more (R16391Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 636978	NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)	LOC126806426, TTN +1 more (R16391* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 682152	NM_001267550.2(TTN):c.49152A>C (p.Thr16384=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 202673	NM_001267550.2(TTN):c.49114T>C (p.Trp16372Arg)	LOC126806426, TTN +1 more (W14731R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 817178	NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs)	LOC126806426, TTN +1 more (C13800fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 202373	NM_001267550.2(TTN):c.49100C>A (p.Ser16367Ter)	LOC126806426, TTN +1 more (S14726* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1329161	NM_001267550.2(TTN):c.49094A>G (p.Asn16365Ser)	LOC126806426, TTN +1 more (N13797S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 191952	NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)	LOC126806426, TTN +1 more (A13789V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GUncertain significance
Select item 507950	NM_001267550.2(TTN):c.49049-6A>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 393251	NM_001267550.2(TTN):c.49049-13A>G	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1215742	NM_001267550.2(TTN):c.49049-37A>G	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1264005	NM_001267550.2(TTN):c.49049-51dup	LOC126806426, TTN +1 more	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 137792	NM_001267550.2(TTN):c.49032G>A (p.Val16344=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 202672	NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln)	LOC126806426, TTN +1 more (R14698Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 238790	NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)	LOC126806426, TTN +1 more (R16339W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 47026	NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +7 more	GBenign
Select item 390824	NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 47025	NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	LOC126806426, TTN +1 more (I16318T +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 515181	NM_001267550.2(TTN):c.48952A>G (p.Ile16318Val)	LOC126806426, TTN +1 more (I14677V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 598301	NM_001267550.2(TTN):c.48919A>G (p.Ile16307Val)	LOC126806426, TTN +1 more (I13739V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 387611	NM_001267550.2(TTN):c.48915T>A (p.Ile16305=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 263512	NM_001267550.2(TTN):c.48903G>C (p.Gln16301His)	LOC126806426, TTN +1 more (Q13733H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 202447	NM_001267550.2(TTN):c.48863del (p.Pro16288fs)	LOC126806426, TTN +1 more (P7348fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 202671	NM_001267550.2(TTN):c.48851G>A (p.Gly16284Glu)	LOC126806426, TTN +1 more (G14643E +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 516822	NM_001267550.2(TTN):c.48849C>T (p.Thr16283=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GLikely benign
Select item 1219280	NM_001267550.2(TTN):c.48844G>A (p.Val16282Ile)	LOC126806426, TTN +1 more (V13714I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 179704	NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 263497	NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr)	LOC126806426, TTN +1 more (I13708T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510945	NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 509581	NM_001267550.2(TTN):c.48781G>A (p.Asp16261Asn)	LOC126806426, TTN +1 more (D14620N +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 681487	NM_001267550.2(TTN):c.48768A>G (p.Pro16256=)	TTN-AS1, LOC126806426 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 202670	NM_001267550.2(TTN):c.48766C>A (p.Pro16256Thr)	LOC126806426, TTN +1 more (P14615T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 509350	NM_001267550.2(TTN):c.48760+11T>C	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 238789	NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)	LOC126806426, TTN +1 more (P16243T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 47024	NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	LOC126806426, TTN +1 more (P16243S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more	GConflicting classifications of pathogenicity
Select item 1141770	NM_001267550.2(TTN):c.48693C>T (p.Ala16231=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 202669	NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)	LOC126806426, TTN +1 more (R14587H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 432297	NM_001267550.2(TTN):c.48682C>T (p.Arg16228Cys)	LOC126806426, TTN +1 more (R14587C +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1216640	NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg)	LOC126806426, TTN +1 more (W13656R +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1309999	NM_001267550.2(TTN):c.48652G>A (p.Gly16218Ser)	LOC126806426, TTN +1 more (G13650S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 671332	NM_001267550.2(TTN):c.48639-46C>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203721	NM_001267550.2(TTN):c.48639-160T>C	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263148	NM_001267550.2(TTN):c.48638+112G>A	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242390	NM_001267550.2(TTN):c.48638+92A>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 47023	NM_001267550.2(TTN):c.48638+5G>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 3340913	NM_001267550.2(TTN):c.48638+1G>C	TTN-AS1, LOC126806426 +1 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52