"GeneDx"[submitter] AND "LOC126806433"[gene] - ClinVar

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Items: 54

	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 196800	NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)	LOC126806433, TTN (R2490H +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 671276	NM_001267550.2(TTN):c.7468C>A (p.Arg2490Ser)	LOC126806433, TTN (R2490S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1256068	NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr)	LOC126806433, TTN (P2441T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514954	NM_001267550.2(TTN):c.7458G>A (p.Lys2486=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 513361	NM_001267550.2(TTN):c.7416T>C (p.Asp2472=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 202503	NM_001267550.2(TTN):c.7391_7393dup (p.Leu2464_Glu2465insVal)	LOC126806433, TTN	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 228148	NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 202544	NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)	LOC126806433, TTN (N2409fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1801157	NM_001267550.2(TTN):c.7363A>G (p.Asn2455Asp)	LOC126806433, TTN (N2409D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 404946	NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)	LOC126806433, TTN (V2447M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 511500	NM_001267550.2(TTN):c.7331-3C>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517784	NM_001267550.2(TTN):c.7331-16G>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 594910	NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys)	LOC126806433, TTN (Y2443C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 203152	NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)	LOC126806433, TTN (R2439H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 516801	NM_001267550.2(TTN):c.7234C>T (p.Leu2412=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 626699	NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)	LOC126806433, TTN (Q2408R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510553	NM_001267550.2(TTN):c.7203T>C (p.Val2401=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2504988	NM_001267550.2(TTN):c.7174_7176delinsAGT (p.Gly2392Ser)	LOC126806433, TTN (G2346S +1 more)	Indel (missense variant)	not provided	GLikely benign
Select item 47377	NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)	LOC126806433, TTN (G2392S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47376	NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1182842	NM_001267550.2(TTN):c.7161C>G (p.Val2387=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 332948	NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)	LOC126806433, TTN (G2386S +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GConflicting classifications of pathogenicity
Select item 682364	NM_001267550.2(TTN):c.7147A>C (p.Ser2383Arg)	LOC126806433, TTN (S2337R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 597840	NM_001267550.2(TTN):c.7144G>A (p.Glu2382Lys)	LOC126806433, TTN (E2382K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 669709	NM_001267550.2(TTN):c.7138T>A (p.Ser2380Thr)	LOC126806433, TTN (S2334T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 47365	NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	LOC126806433, TTN (R2354H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 166310	NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)	LOC126806433, TTN (R2354C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 669708	NM_001267550.2(TTN):c.7058-17C>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 873434	NM_001267550.2(TTN):c.7057+1G>A	LOC126806433, TTN	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 467428	NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 137824	NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1312533	NM_001267550.2(TTN):c.6994G>A (p.Asp2332Asn)	LOC126806433, TTN (D2286N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506751	NM_001267550.2(TTN):c.6972G>A (p.Thr2324=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1194320	NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)	LOC126806433, TTN (T2278M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 467418	NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)	LOC126806433, TTN (R2317H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1185902	NM_001267550.2(TTN):c.6942T>C (p.Ile2314=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1302223	NM_001267550.2(TTN):c.6940A>G (p.Ile2314Val)	LOC126806433, TTN (I2268V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203151	NM_001267550.2(TTN):c.6938C>G (p.Thr2313Arg)	LOC126806433, TTN (T2313R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 680387	NM_001267550.2(TTN):c.6927T>C (p.Asn2309=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 192073	NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)	LOC126806433, TTN (N2309K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 1215513	NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)	LOC126806433, TTN (S2262Y +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 203150	NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)	LOC126806433, TTN (Y2300C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 499692	NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg)	LOC126806433, TTN (W2299R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 511250	NM_001267550.2(TTN):c.6870A>G (p.Val2290=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 203149	NM_001267550.2(TTN):c.6851G>C (p.Gly2284Ala)	LOC126806433, TTN (G2284A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 203148	NM_001267550.2(TTN):c.6826A>G (p.Ile2276Val)	LOC126806433, TTN (I2276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504376	NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)	LOC126806433, TTN (Q2274* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 264475	NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)	LOC126806433, TTN (Q2228E +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 515849	NM_001267550.2(TTN):c.6791-11A>G	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1275365	NM_001267550.2(TTN):c.6791-97G>A	LOC126806433, TTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675633	NM_001267550.2(TTN):c.6791-202T>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247811	NM_001267550.2(TTN):c.6790+150G>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 54