"Ambry Genetics"[submitter] AND "TTR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1230561	NM_000371.4(TTR):c.-15C>T	TTR	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1235184	NM_000371.4(TTR):c.-3A>G	TTR	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 495839	NM_000371.4(TTR):c.-1G>C	TTR	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
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)	not provided +2 more	GLikely benign
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 940630	NM_000371.4(TTR):c.13C>T (p.Arg5Cys)	TTR (R5C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1260782	NM_000371.4(TTR):c.24C>T (p.Leu8=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +2 more	GBenign/Likely benign
Select item 579863	NM_000371.4(TTR):c.34G>T (p.Ala12Ser)	TTR (A12S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1119640	NM_000371.4(TTR):c.40C>T (p.Leu14=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +4 more	GBenign/Likely benign
Select item 1330783	NM_000371.4(TTR):c.50T>C (p.Val17Ala)	TTR (V17A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1488408	NM_000371.4(TTR):c.65C>T (p.Pro22Leu)	TTR (P22L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 43456	NM_000371.4(TTR):c.68C>T (p.Thr23Met)	TTR (T23M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 669808	NM_000371.4(TTR):c.69G>A (p.Thr23=)	TTR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 2567263	NM_000371.4(TTR):c.70-1G>A	TTR	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
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 13452	NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	TTR (G26S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 384179	NM_000371.4(TTR):c.78T>C (p.Gly26=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +4 more	GLikely benign
Select item 1765057	NM_000371.4(TTR):c.88T>G (p.Cys30Gly)	TTR (C30G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 13444	NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	TTR (C30R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 571867	NM_000371.4(TTR):c.112G>A (p.Asp38Asn)	TTR (D38N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1359774	NM_000371.4(TTR):c.114T>A (p.Asp38Glu)	TTR (D38E)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic
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 2610176	NM_000371.4(TTR):c.117delinsAGTCCTCGGTCAAA (p.Arg41fs)	TTR (R41fs)	Indel (frameshift variant)	Cardiovascular phenotype	GUncertain significance
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 698845	NM_000371.4(TTR):c.121C>A (p.Arg41=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +4 more	GLikely benign
Select item 246463	NM_000371.4(TTR):c.122G>A (p.Arg41Gln)	TTR (R41Q)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 661615	NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	TTR (S43N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 1770339	NM_000371.4(TTR):c.133G>T (p.Ala45Ser)	TTR (A45S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 178279	NM_000371.4(TTR):c.140A>G (p.Asn47Ser)	TTR (N47S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 538167	NM_000371.4(TTR):c.141T>C (p.Asn47=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 495838	NM_000371.4(TTR):c.147C>T (p.Ala49=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 13440	NM_000371.4(TTR):c.148G>C (p.Val50Leu)	TTR (V50L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic
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
Select item 13456	NM_000371.4(TTR):c.157T>C (p.Phe53Leu)	TTR (F53L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1776772	NM_000371.4(TTR):c.162A>C (p.Arg54Ser)	TTR (R54S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2051168	NM_000371.4(TTR):c.163A>G (p.Lys55Glu)	TTR (K55E)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GConflicting classifications of pathogenicity
Select item 962411	NM_000371.4(TTR):c.172G>C (p.Asp58His)	TTR (D58H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 644083	NM_000371.4(TTR):c.173A>C (p.Asp58Ala)	TTR (D58A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1780335	NM_000371.4(TTR):c.179C>T (p.Thr60Ile)	TTR (T60I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1066429	NM_000371.4(TTR):c.179C>A (p.Thr60Asn)	TTR (T60N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 633448	NM_000371.4(TTR):c.186G>T (p.Glu62Asp)	TTR (E62D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178280	NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	TTR (F64L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 13461	NM_000371.4(TTR):c.191T>C (p.Phe64Ser)	TTR (F64S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 850453	NM_000371.4(TTR):c.193G>A (p.Ala65Thr)	TTR (A65T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 448841	NM_000371.4(TTR):c.194C>T (p.Ala65Val)	TTR (A65V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 938206	NM_000371.4(TTR):c.200G>T (p.Gly67Val)	TTR (G67V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic/Likely pathogenic
Select item 803481	NM_000371.4(TTR):c.200G>A (p.Gly67Glu)	TTR (G67E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 13451	NM_000371.4(TTR):c.200G>C (p.Gly67Ala)	TTR (G67A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 1784465	NM_000371.4(TTR):c.201-5T>C	TTR	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 808383	NM_000371.4(TTR):c.209G>A (p.Ser70Asn)	TTR (S70N)	Single nucleotide variant (missense variant)	Tip-toe gait +5 more	GUncertain significance
Select item 36890	NM_000371.4(TTR):c.210T>A (p.Ser70Arg)	TTR (S70R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 13429	NM_000371.4(TTR):c.210T>G (p.Ser70Arg)	TTR (S70R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1004913	NM_000371.4(TTR):c.211G>A (p.Glu71Lys)	TTR (E71K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1786369	NM_000371.4(TTR):c.212A>G (p.Glu71Gly)	TTR (E71G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1786362	NM_000371.4(TTR):c.212A>C (p.Glu71Ala)	TTR (E71A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 1178327	NM_000371.4(TTR):c.214T>C (p.Ser72Pro)	TTR (S72P)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic
Select item 1712259	NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)	TTR (E74L)	Indel (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 636837	NM_000371.4(TTR):c.220G>A (p.Glu74Lys)	TTR (E74K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 448842	NM_000371.4(TTR):c.220G>C (p.Glu74Gln)	TTR (E74Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 181701	NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)	TTR (E74S)	Inversion (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GLikely pathogenic
Select item 811803	NM_000371.4(TTR):c.221A>G (p.Glu74Gly)	TTR (E74G)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 963852	NM_000371.4(TTR):c.227A>G (p.His76Arg)	TTR (H76R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 13420	NM_000371.4(TTR):c.233T>A (p.Leu78His)	TTR (L78H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 13421	NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	TTR (T80A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 577420	NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	TTR (T80I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13447	NM_000371.4(TTR):c.241G>A (p.Glu81Lys)	TTR (E81K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1791134	NM_000371.4(TTR):c.242A>C (p.Glu81Ala)	TTR (E81A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 572472	NM_000371.4(TTR):c.242A>G (p.Glu81Gly)	TTR (E81G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 495841	NM_000371.4(TTR):c.244G>A (p.Glu82Lys)	TTR (E82K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1014781	NM_000371.4(TTR):c.246G>C (p.Glu82Asp)	TTR (E82D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 13453	NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	TTR (F84L)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +4 more	GPathogenic
Select item 13446	NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	TTR (I88L)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1794183	NM_000371.4(TTR):c.263T>G (p.Ile88Arg)	TTR (I88R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 13466	NM_000371.4(TTR):c.265T>C (p.Tyr89His)	TTR (Y89H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 378834	NM_000371.4(TTR):c.267C>T (p.Tyr89=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +2 more	GLikely benign
Select item 181695	NM_000371.4(TTR):c.280G>C (p.Asp94His)	TTR (D94H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1797565	NM_000371.4(TTR):c.290C>T (p.Ser97Phe)	TTR (S97F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GPathogenic
Select item 13422	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	TTR (S97Y)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1294424	NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)	TTR (Y98F)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic/Likely pathogenic
Select item 1141045	NM_000371.4(TTR):c.300G>A (p.Lys100=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 181696	NM_000371.4(TTR):c.301G>A (p.Ala101Thr)	TTR (A101T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 495842	NM_000371.4(TTR):c.302C>T (p.Ala101Val)	TTR (A101V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1727444	NM_000371.4(TTR):c.308G>A (p.Gly103Asp)	TTR (G103D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1452255	NM_000371.4(TTR):c.311T>C (p.Ile104Thr)	TTR (I104T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 13423	NM_000371.4(TTR):c.311T>G (p.Ile104Ser)	TTR (I104S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1366051	NM_000371.4(TTR):c.314C>T (p.Ser105Phe)	TTR (S105F)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +3 more	GUncertain significance
Select item 853918	NM_000371.4(TTR):c.323A>G (p.His108Arg)	TTR (H108R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic
Select item 1073324	NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	TTR (E109K)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic/Likely pathogenic
Select item 13442	NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	TTR (E109Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 846359	NM_000371.4(TTR):c.326A>T (p.Glu109Val)	TTR (E109V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235066	NM_000371.4(TTR):c.327G>T (p.Glu109Asp)	TTR (E109D)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GConflicting classifications of pathogenicity

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