C2751492[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191854	NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)	TTN, TTN-AS1 (I28102T +5 more)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +8 more	GConflicting classifications of pathogenicity
Select item 535366	NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)	TTN, TTN-AS1 (F27758L +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 228936	NM_000258.3(MYL3):c.92G>A (p.Arg31His)	MYL3 (R31H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42543	NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	MYBPC3 (G507R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 201978	NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)	PKP2 (G322C)	Single nucleotide variant (missense variant)	Ventricular fibrillation +7 more	GConflicting classifications of pathogenicity
Select item 744399	NM_000371.4(TTR):c.-743A>T	TTR	Single nucleotide variant	Hyperthyroxinemia, dystransthyretinemic +2 more	GBenign/Likely benign
Select item 2914555	NM_000371.4(TTR):c.6T>G (p.Ala2=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 326545	NM_000371.4(TTR):c.11_13dup (p.His4dup)	TTR	Duplication (inframe_insertion)	not provided +4 more	GUncertain significance
Select item 749124	NM_000371.4(TTR):c.9T>C (p.Ser3=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 658582	NM_000371.4(TTR):c.11_13del (p.His4del)	TTR (H4del)	Deletion (inframe_deletion)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 803480	NM_000371.4(TTR):c.11A>T (p.His4Leu)	TTR (H4L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 1471008	NM_000371.4(TTR):c.12T>A (p.His4Gln)	TTR (H4Q)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 940630	NM_000371.4(TTR):c.13C>T (p.Arg5Cys)	TTR (R5C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 284011	NM_000371.4(TTR):c.13C>G (p.Arg5Gly)	TTR (R5G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +8 more	GConflicting classifications of pathogenicity
Select item 1673536	NM_000371.4(TTR):c.21C>T (p.Leu7=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1260782	NM_000371.4(TTR):c.24C>T (p.Leu8=)	TTR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 245725	NM_000371.4(TTR):c.25C>T (p.Leu9Phe)	TTR (L9F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 579863	NM_000371.4(TTR):c.34G>T (p.Ala12Ser)	TTR (A12S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 2093779	NM_000371.4(TTR):c.35C>T (p.Ala12Val)	TTR (A12V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 857014	NM_000371.4(TTR):c.35C>A (p.Ala12Asp)	TTR (A12D)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1423499	NM_000371.4(TTR):c.37G>A (p.Gly13Arg)	TTR (G13R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 1119640	NM_000371.4(TTR):c.40C>T (p.Leu14=)	TTR	Single nucleotide variant (synonymous variant)	Carpal tunnel syndrome 1 +4 more	GBenign/Likely benign
Select item 2110740	NM_000371.4(TTR):c.45A>G (p.Val15=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2176199	NM_000371.4(TTR):c.54T>C (p.Ser18=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2762958	NM_000371.4(TTR):c.57G>A (p.Glu19=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 470719	NM_000371.4(TTR):c.62G>C (p.Gly21Ala)	TTR (G21A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2119686	NM_000371.4(TTR):c.65del (p.Pro22fs)	TTR (P22fs)	Deletion (frameshift variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1488408	NM_000371.4(TTR):c.65C>T (p.Pro22Leu)	TTR (P22L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 1126305	NM_000371.4(TTR):c.66T>C (p.Pro22=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 43456	NM_000371.4(TTR):c.68C>T (p.Thr23Met)	TTR (T23M)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +5 more	GUncertain significance
Select item 669808	NM_000371.4(TTR):c.69G>A (p.Thr23=)	TTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 640710	NM_000371.4(TTR):c.69G>C (p.Thr23=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2891340	NM_000371.4(TTR):c.69+4_69+7del	TTR	Deletion (splice donor variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 644589	NM_000371.4(TTR):c.69+1G>A	TTR	Single nucleotide variant (splice donor variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 930309	NM_000371.4(TTR):c.69+5G>C	TTR	Single nucleotide variant (intron variant)	TTR-related disorder +1 more	GUncertain significance
Select item 2172830	NM_000371.4(TTR):c.69+6T>C	TTR	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 513002	NM_000371.4(TTR):c.69+7G>A	TTR	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 741882	NM_000371.4(TTR):c.69+10T>C	TTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1593753	NM_000371.4(TTR):c.69+12T>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1592422	NM_000371.4(TTR):c.69+13G>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2974972	NM_000371.4(TTR):c.70-20del	TTR	Deletion (intron variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 391990	NM_000371.4(TTR):c.70-20C>T	TTR	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1591998	NM_000371.4(TTR):c.70-19G>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 389548	NM_000371.4(TTR):c.70-19G>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +4 more	GLikely benign
Select item 1284490	NM_000371.4(TTR):c.70-16T>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +3 more	GConflicting classifications of pathogenicity
Select item 2035000	NM_000371.4(TTR):c.70-9T>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 386609	NM_000371.4(TTR):c.70-9T>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely benign
Select item 137848	NM_000371.4(TTR):c.70-7C>T	TTR	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1612928	NM_000371.4(TTR):c.70-5C>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2164523	NM_000371.4(TTR):c.70-4C>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely benign
Select item 1757656	NM_000371.4(TTR):c.71G>A (p.Gly24Asp)	TTR (G24D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 856655	NM_000371.4(TTR):c.74C>T (p.Thr25Ile)	TTR (T25I)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 917085	NM_000371.4(TTR):c.75C>T (p.Thr25=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely benign
Select item 13452	NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	TTR (G26S)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 384179	NM_000371.4(TTR):c.78T>C (p.Gly26=)	TTR	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1313300	NM_000371.4(TTR):c.83C>T (p.Ser28Phe)	TTR (S28F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1518527	NM_000371.4(TTR):c.85A>G (p.Lys29Glu)	TTR (K29E)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 13444	NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	TTR (C30R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1490986	NM_000371.4(TTR):c.89G>A (p.Cys30Tyr)	TTR (C30Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 1502316	NM_000371.4(TTR):c.91C>T (p.Pro31Ser)	TTR (P31S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1075407	NM_000371.4(TTR):c.94C>G (p.Leu32Val)	TTR (L32V)	Single nucleotide variant (missense variant)	Amyloidosis +2 more	GPathogenic
Select item 13457	NM_000371.4(TTR):c.95T>C (p.Leu32Pro)	TTR (L32P)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic
Select item 2704993	NM_000371.4(TTR):c.98T>A (p.Met33Lys)	TTR (M33K)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2002330	NM_000371.4(TTR):c.108T>A (p.Val36=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1720654	NM_000371.4(TTR):c.110T>C (p.Leu37Pro)	TTR (L37P)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 571867	NM_000371.4(TTR):c.112G>A (p.Asp38Asn)	TTR (D38N)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic
Select item 13463	NM_000371.4(TTR):c.113A>G (p.Asp38Gly)	TTR (D38G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 1359774	NM_000371.4(TTR):c.114T>A (p.Asp38Glu)	TTR (D38E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 756250	NM_000371.4(TTR):c.114T>C (p.Asp38=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2829100	NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs)	TTR (R41fs)	Insertion (frameshift variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 565560	NM_000371.4(TTR):c.116C>A (p.Ala39Asp)	TTR (A39D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 2829101	NM_000371.4(TTR):c.117T>A (p.Ala39=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 13455	NM_000371.4(TTR):c.118G>A (p.Val40Ile)	TTR (V40I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2169600	NM_000371.4(TTR):c.119T>C (p.Val40Ala)	TTR (V40A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 2880351	NM_000371.4(TTR):c.120C>T (p.Val40=)	TTR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1358349	NM_000371.4(TTR):c.121C>T (p.Arg41Ter)	TTR (R41*)	Single nucleotide variant (nonsense)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 698845	NM_000371.4(TTR):c.121C>A (p.Arg41=)	TTR	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 246463	NM_000371.4(TTR):c.122G>A (p.Arg41Gln)	TTR (R41Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1372970	NM_000371.4(TTR):c.124G>A (p.Gly42Ser)	TTR (G42S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 641759	NM_000371.4(TTR):c.127A>C (p.Ser43Arg)	TTR (S43R)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +2 more	GUncertain significance
Select item 661615	NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	TTR (S43N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 181693	NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	TTR (P44S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 948928	NM_000371.4(TTR):c.131C>T (p.Pro44Leu)	TTR (P44L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 246201	NM_000371.4(TTR):c.136A>G (p.Ile46Val)	TTR (I46V)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +3 more	GUncertain significance
Select item 639226	NM_000371.4(TTR):c.137T>C (p.Ile46Thr)	TTR (I46T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 178279	NM_000371.4(TTR):c.140A>G (p.Asn47Ser)	TTR (N47S)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 538167	NM_000371.4(TTR):c.141T>C (p.Asn47=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +3 more	GLikely benign
Select item 2121051	NM_000371.4(TTR):c.147C>A (p.Ala49=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 495838	NM_000371.4(TTR):c.147C>T (p.Ala49=)	TTR	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2138144	NM_000371.4(TTR):c.148G>T (p.Val50Leu)	TTR (V50L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 13440	NM_000371.4(TTR):c.148G>C (p.Val50Leu)	TTR (V50L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GPathogenic
Select item 13465	NM_000371.4(TTR):c.149T>G (p.Val50Gly)	TTR (V50G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 13430	NM_000371.4(TTR):c.149T>C (p.Val50Ala)	TTR (V50A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 2916432	NM_000371.4(TTR):c.151C>T (p.His51Tyr)	TTR (H51Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2705152	NM_000371.4(TTR):c.151C>G (p.His51Asp)	TTR (H51D)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1419301	NM_000371.4(TTR):c.151C>A (p.His51Asn)	TTR (H51N)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GUncertain significance
Select item 944589	NM_000371.4(TTR):c.155T>C (p.Val52Ala)	TTR (V52A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely pathogenic
Select item 1083722	NM_000371.4(TTR):c.156G>A (p.Val52=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely benign

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