TTR[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14909861.	NM_000371.4(TTR):c.89G>A (p.Cys30Tyr) GRCh37: Chr18:29172878 GRCh38: Chr18:31592915	TTR	C30Y	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 10754072.	NM_000371.4(TTR):c.94C>G (p.Leu32Val) GRCh37: Chr18:29172883 GRCh38: Chr18:31592920	TTR	L32V	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134573.	NM_000371.4(TTR):c.95T>C (p.Leu32Pro) GRCh37: Chr18:29172884 GRCh38: Chr18:31592921	TTR	L32P	not specified	Pathogenic (Jun 5, 2019)	criteria provided, single submitter
Select item 5718674.	NM_000371.4(TTR):c.112G>A (p.Asp38Asn) GRCh37: Chr18:29172901 GRCh38: Chr18:31592938	TTR	D38N	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134635.	NM_000371.4(TTR):c.113A>G (p.Asp38Gly) GRCh37: Chr18:29172902 GRCh38: Chr18:31592939	TTR	D38G	Amyloidogenic transthyretin amyloidosis	Pathogenic (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13597746.	NM_000371.4(TTR):c.114T>A (p.Asp38Glu) GRCh37: Chr18:29172903 GRCh38: Chr18:31592940	TTR	D38E	Amyloidogenic transthyretin amyloidosis	Pathogenic (Nov 5, 2021)	criteria provided, single submitter
Select item 5655607.	NM_000371.4(TTR):c.116C>A (p.Ala39Asp) GRCh37: Chr18:29172905 GRCh38: Chr18:31592942	TTR	A39D	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134558.	NM_000371.4(TTR):c.118G>A (p.Val40Ile) GRCh37: Chr18:29172907 GRCh38: Chr18:31592944	TTR	V40I	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21696009.	NM_000371.4(TTR):c.119T>C (p.Val40Ala) GRCh37: Chr18:29172908 GRCh38: Chr18:31592945	TTR	V40A	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 66161510.	NM_000371.4(TTR):c.128G>A (p.Ser43Asn) GRCh37: Chr18:29172917 GRCh38: Chr18:31592954	TTR	S43N	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis, not provided	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18169311.	NM_000371.4(TTR):c.130C>T (p.Pro44Ser) GRCh37: Chr18:29172919 GRCh38: Chr18:31592956	TTR	P44S	not provided, Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94892812.	NM_000371.4(TTR):c.131C>T (p.Pro44Leu) GRCh37: Chr18:29172920 GRCh38: Chr18:31592957	TTR	P44L	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 177033913.	NM_000371.4(TTR):c.133G>T (p.Ala45Ser) GRCh37: Chr18:29172922 GRCh38: Chr18:31592959	TTR	A45S	Cardiovascular phenotype	Likely pathogenic (Dec 5, 2019)	criteria provided, single submitter
Select item 1343714.	NM_000371.4(TTR):c.133G>A (p.Ala45Thr) GRCh37: Chr18:29172922 GRCh38: Chr18:31592959	TTR	A45T	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, Amyloidogenic transthyretin amyloidosis	Pathogenic (Apr 14, 2009)	no assertion criteria provided
Select item 213814415.	NM_000371.4(TTR):c.148G>T (p.Val50Leu) GRCh37: Chr18:29172937 GRCh38: Chr18:31592974	TTR	V50L	Amyloidogenic transthyretin amyloidosis	Pathogenic (Jul 2, 2022)	criteria provided, single submitter
Select item 1344016.	NM_000371.4(TTR):c.148G>C (p.Val50Leu) GRCh37: Chr18:29172937 GRCh38: Chr18:31592974	TTR	V50L	Cardiovascular phenotype, Charcot-Marie-Tooth disease, Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1341717.	NM_000371.4(TTR):c.148G>A (p.Val50Met) GRCh37: Chr18:29172937 GRCh38: Chr18:31592974	TTR	V50M	Amyloidogenic transthyretin amyloidosis, Hyperthyroxinemia, dystransthyretinemic, Carpal tunnel syndrome 1, Cardiovascular phenotype, Charcot-Marie-Tooth disease, not provided, Cardiomyopathy, Amyloidogenic transthyretin amyloidosis	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1346518.	NM_000371.4(TTR):c.149T>G (p.Val50Gly) GRCh37: Chr18:29172938 GRCh38: Chr18:31592975	TTR	V50G	Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 21, 2021)	criteria provided, single submitter
Select item 1343019.	NM_000371.4(TTR):c.149T>C (p.Val50Ala) GRCh37: Chr18:29172938 GRCh38: Chr18:31592975	TTR	V50A	Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94458920.	NM_000371.4(TTR):c.155T>C (p.Val52Ala) GRCh37: Chr18:29172944 GRCh38: Chr18:31592981	TTR	V52A	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1345621.	NM_000371.4(TTR):c.157T>C (p.Phe53Leu) GRCh37: Chr18:29172946 GRCh38: Chr18:31592983	TTR	F53L	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1341822.	NM_000371.4(TTR):c.157T>A (p.Phe53Ile) GRCh37: Chr18:29172946 GRCh38: Chr18:31592983	TTR	F53I	Amyloidogenic transthyretin amyloidosis	Pathogenic (Feb 1, 1993)	no assertion criteria provided
Select item 66038523.	NM_000371.4(TTR):c.160A>G (p.Arg54Gly) GRCh37: Chr18:29172949 GRCh38: Chr18:31592986	TTR	R54G	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 84075724.	NM_000371.4(TTR):c.161G>C (p.Arg54Thr) GRCh37: Chr18:29172950 GRCh38: Chr18:31592987	TTR	R54T	Amyloidogenic transthyretin amyloidosis	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 205116825.	NM_000371.4(TTR):c.163A>G (p.Lys55Glu) GRCh37: Chr18:29172952 GRCh38: Chr18:31592989	TTR	K55E	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 213814526.	NM_000371.4(TTR):c.165G>C (p.Lys55Asn) GRCh37: Chr18:29172954 GRCh38: Chr18:31592991	TTR	K55N	Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 57649627.	NM_000371.4(TTR):c.165G>T (p.Lys55Asn) GRCh37: Chr18:29172954 GRCh38: Chr18:31592991	TTR	K55N	not provided, Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1343228.	NM_000371.4(TTR):c.166G>C (p.Ala56Pro) GRCh37: Chr18:29172955 GRCh38: Chr18:31592992	TTR	A56P	Amyloidogenic transthyretin amyloidosis	Pathogenic (Jun 14, 2018)	no assertion criteria provided
Select item 96241129.	NM_000371.4(TTR):c.172G>C (p.Asp58His) GRCh37: Chr18:29172961 GRCh38: Chr18:31592998	TTR	D58H	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145893230.	NM_000371.4(TTR):c.173A>T (p.Asp58Val) GRCh37: Chr18:29172962 GRCh38: Chr18:31592999	TTR	D58V	Amyloidogenic transthyretin amyloidosis	Pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 64408331.	NM_000371.4(TTR):c.173A>C (p.Asp58Ala) GRCh37: Chr18:29172962 GRCh38: Chr18:31592999	TTR	D58A	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106642932.	NM_000371.4(TTR):c.179C>A (p.Thr60Asn) GRCh37: Chr18:29172968 GRCh38: Chr18:31593005	TTR	T60N	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Likely pathogenic (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107540833.	NM_000371.4(TTR):c.182G>T (p.Trp61Leu) GRCh37: Chr18:29172971 GRCh38: Chr18:31593008	TTR	W61L	Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 1342834.	NM_000371.4(TTR):c.185A>G (p.Glu62Gly) GRCh37: Chr18:29172974 GRCh38: Chr18:31593011	TTR	E62G	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 1, 1992)	no assertion criteria provided
Select item 106839235.	NM_000371.4(TTR):c.186G>C (p.Glu62Asp) GRCh37: Chr18:29172975 GRCh38: Chr18:31593012	TTR	E62D	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1346136.	NM_000371.4(TTR):c.191T>C (p.Phe64Ser) GRCh37: Chr18:29172980 GRCh38: Chr18:31593017	TTR	F64S	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85045337.	NM_000371.4(TTR):c.193G>A (p.Ala65Thr) GRCh37: Chr18:29172982 GRCh38: Chr18:31593019	TTR	A65T	not provided, Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18170238.	NM_000371.4(TTR):c.194C>A (p.Ala65Asp) GRCh37: Chr18:29172983 GRCh38: Chr18:31593020	TTR	A65D	Amyloidogenic transthyretin amyloidosis, not provided	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1345939.	NM_000371.4(TTR):c.199G>A (p.Gly67Arg) GRCh37: Chr18:29172988 GRCh38: Chr18:31593025	TTR		Amyloidogenic transthyretin amyloidosis	Pathogenic (Apr 1, 2000)	no assertion criteria provided
Select item 1343640.	NM_000371.4(TTR):c.199G>C (p.Gly67Arg) GRCh37: Chr18:29172988 GRCh38: Chr18:31593025	TTR		Amyloidogenic transthyretin amyloidosis	Pathogenic (Apr 1, 2000)	no assertion criteria provided
Select item 93820641.	NM_000371.4(TTR):c.200G>T (p.Gly67Val) GRCh37: Chr18:29172989 GRCh38: Chr18:31593026	TTR	G67V	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80348142.	NM_000371.4(TTR):c.200G>A (p.Gly67Glu) GRCh37: Chr18:29172989 GRCh38: Chr18:31593026	TTR	G67E	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1345143.	NM_000371.4(TTR):c.200G>C (p.Gly67Ala) GRCh37: Chr18:29172989 GRCh38: Chr18:31593026	TTR	G67A	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1344144.	NM_000371.4(TTR):c.205A>G (p.Thr69Ala) GRCh37: Chr18:29175087 GRCh38: Chr18:31595124	TTR	T69A	Amyloidogenic transthyretin amyloidosis	Pathogenic (Feb 13, 1997)	no assertion criteria provided
Select item 145480145.	NM_000371.4(TTR):c.206C>T (p.Thr69Ile) GRCh37: Chr18:29175088 GRCh38: Chr18:31595125	TTR	T69I	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 53816446.	NM_000371.4(TTR):c.206C>G (p.Thr69Ser) GRCh37: Chr18:29175088 GRCh38: Chr18:31595125	TTR	T69S	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 216960147.	NM_000371.4(TTR):c.208A>G (p.Ser70Gly) GRCh37: Chr18:29175090 GRCh38: Chr18:31595127	TTR	S70G	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 3688948.	NM_000371.4(TTR):c.208A>C (p.Ser70Arg) GRCh37: Chr18:29175090 GRCh38: Chr18:31595127	TTR	S70R	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Aug 18, 2011)	criteria provided, single submitter
Select item 54551849.	NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup) GRCh37: Chr18:29175091-29175092 GRCh38: Chr18:31595128-31595129	TTR		Amyloidogenic transthyretin amyloidosis	Pathogenic (Mar 16, 2018)	no assertion criteria provided
Select item 1343950.	NM_000371.4(TTR):c.209G>T (p.Ser70Ile) GRCh37: Chr18:29175091 GRCh38: Chr18:31595128	TTR	S70I	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 31, 1992)	no assertion criteria provided
Select item 3689051.	NM_000371.4(TTR):c.210T>A (p.Ser70Arg) GRCh37: Chr18:29175092 GRCh38: Chr18:31595129	TTR	S70R	not provided, Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1342952.	NM_000371.4(TTR):c.210T>G (p.Ser70Arg) GRCh37: Chr18:29175092 GRCh38: Chr18:31595129	TTR	S70R	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117832753.	NM_000371.4(TTR):c.214T>C (p.Ser72Pro) GRCh37: Chr18:29175096 GRCh38: Chr18:31595133	TTR	S72P	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic (Aug 17, 2017)	criteria provided, multiple submitters, no conflicts
Select item 106749954.	NM_000371.4(TTR):c.217G>A (p.Gly73Arg) GRCh37: Chr18:29175099 GRCh38: Chr18:31595136	TTR	G73R	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1346255.	NM_000371.4(TTR):c.218G>A (p.Gly73Glu) GRCh37: Chr18:29175100 GRCh38: Chr18:31595137	TTR	G73E	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	Pathogenic (Jul 10, 2001)	no assertion criteria provided
Select item 171225956.	NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu) GRCh37: Chr18:29175102-29175103 GRCh38: Chr18:31595139-31595140	TTR	E74L	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63683757.	NM_000371.4(TTR):c.220G>A (p.Glu74Lys) GRCh37: Chr18:29175102 GRCh38: Chr18:31595139	TTR	E74K	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151970558.	NM_000371.4(TTR):c.221A>C (p.Glu74Ala) GRCh37: Chr18:29175103 GRCh38: Chr18:31595140	TTR	E74A	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 81180359.	NM_000371.4(TTR):c.221A>G (p.Glu74Gly) GRCh37: Chr18:29175103 GRCh38: Chr18:31595140	TTR	E74G	not specified, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84209960.	NM_000371.4(TTR):c.223C>A (p.Leu75Met) GRCh37: Chr18:29175105 GRCh38: Chr18:31595142	TTR	L75M	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 94133761.	NM_000371.4(TTR):c.224T>G (p.Leu75Arg) GRCh37: Chr18:29175106 GRCh38: Chr18:31595143	TTR	L75R	Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 1343862.	NM_000371.4(TTR):c.224T>C (p.Leu75Pro) GRCh37: Chr18:29175106 GRCh38: Chr18:31595143	TTR	L75P	Amyloidogenic transthyretin amyloidosis	Pathogenic (Jan 1, 1997)	no assertion criteria provided
Select item 66044563.	NM_000371.4(TTR):c.229G>A (p.Gly77Arg) GRCh37: Chr18:29175111 GRCh38: Chr18:31595148	TTR	G77R	Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1343564.	NM_000371.4(TTR):c.233T>G (p.Leu78Arg) GRCh37: Chr18:29175115 GRCh38: Chr18:31595152	TTR	L78R	Amyloidogenic transthyretin amyloidosis	Pathogenic (Oct 15, 1991)	no assertion criteria provided
Select item 1342065.	NM_000371.4(TTR):c.233T>A (p.Leu78His) GRCh37: Chr18:29175115 GRCh38: Chr18:31595152	TTR	L78H	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216960266.	NM_000371.4(TTR):c.235A>G (p.Thr79Ala) GRCh37: Chr18:29175117 GRCh38: Chr18:31595154	TTR	T79A	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 18169467.	NM_000371.4(TTR):c.236C>A (p.Thr79Lys) GRCh37: Chr18:29175118 GRCh38: Chr18:31595155	TTR	T79K	not provided	Likely pathogenic (May 11, 2020)	criteria provided, single submitter
Select item 1342168.	NM_000371.4(TTR):c.238A>G (p.Thr80Ala) GRCh37: Chr18:29175120 GRCh38: Chr18:31595157	TTR	T80A	Cardiovascular phenotype, Charcot-Marie-Tooth disease, Cardiomyopathy, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57742069.	NM_000371.4(TTR):c.239C>T (p.Thr80Ile) GRCh37: Chr18:29175121 GRCh38: Chr18:31595158	TTR	T80I	Amyloidogenic transthyretin amyloidosis, not provided, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1344770.	NM_000371.4(TTR):c.241G>A (p.Glu81Lys) GRCh37: Chr18:29175123 GRCh38: Chr18:31595160	TTR	E81K	Cardiovascular phenotype	Likely pathogenic (Jan 30, 2019)	criteria provided, single submitter
Select item 179113471.	NM_000371.4(TTR):c.242A>C (p.Glu81Ala) GRCh37: Chr18:29175124 GRCh38: Chr18:31595161	TTR	E81A	Cardiovascular phenotype	Likely pathogenic (Mar 10, 2019)	criteria provided, single submitter
Select item 49584172.	NM_000371.4(TTR):c.244G>A (p.Glu82Lys) GRCh37: Chr18:29175126 GRCh38: Chr18:31595163	TTR	E82K	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1345373.	NM_000371.4(TTR):c.250T>C (p.Phe84Leu) GRCh37: Chr18:29175132 GRCh38: Chr18:31595169	TTR	F84L	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis, Carpal tunnel syndrome, Hyperthyroxinemia, dystransthyretinemic, Amyloidogenic transthyretin amyloidosis	Pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 201471574.	NM_000371.4(TTR):c.251T>A (p.Phe84Tyr) GRCh37: Chr18:29175133 GRCh38: Chr18:31595170	TTR	F84Y	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Jul 7, 2022)	criteria provided, single submitter
Select item 106750075.	NM_000371.4(TTR):c.251T>C (p.Phe84Ser) GRCh37: Chr18:29175133 GRCh38: Chr18:31595170	TTR	F84S	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 84536876.	NM_000371.4(TTR):c.252T>G (p.Phe84Leu) GRCh37: Chr18:29175134 GRCh38: Chr18:31595171	TTR	F84L	Charcot-Marie-Tooth disease, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93588677.	NM_000371.4(TTR):c.258A>T (p.Glu86Asp) GRCh37: Chr18:29175140 GRCh38: Chr18:31595177	TTR	E86D	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 100608478.	NM_000371.4(TTR):c.259G>C (p.Gly87Arg) GRCh37: Chr18:29175141 GRCh38: Chr18:31595178	TTR	G87R	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 1344679.	NM_000371.4(TTR):c.262A>T (p.Ile88Leu) GRCh37: Chr18:29175144 GRCh38: Chr18:31595181	TTR	I88L	Amyloidogenic transthyretin amyloidosis, Hyperthyroxinemia, dystransthyretinemic, Carpal tunnel syndrome 1, Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1346680.	NM_000371.4(TTR):c.265T>C (p.Tyr89His) GRCh37: Chr18:29175147 GRCh38: Chr18:31595184	TTR	Y89H	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216960381.	NM_000371.4(TTR):c.268A>C (p.Lys90Gln) GRCh37: Chr18:29175150 GRCh38: Chr18:31595187	TTR	K90Q	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 1344382.	NM_000371.4(TTR):c.270A>C (p.Lys90Asn) GRCh37: Chr18:29175152 GRCh38: Chr18:31595189	TTR	K90N	Amyloidogenic transthyretin amyloidosis	Pathogenic (Nov 1, 1992)	no assertion criteria provided
Select item 1344583.	NM_000371.4(TTR):c.272T>C (p.Val91Ala) GRCh37: Chr18:29175154 GRCh38: Chr18:31595191	TTR	V91A	Amyloidogenic transthyretin amyloidosis	Pathogenic (Feb 13, 1997)	no assertion criteria provided
Select item 80348284.	NM_000371.4(TTR):c.277A>G (p.Ile93Val) GRCh37: Chr18:29175159 GRCh38: Chr18:31595196	TTR	I93V	Amyloidogenic transthyretin amyloidosis, Hereditary amyloidosis	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 179756585.	NM_000371.4(TTR):c.290C>T (p.Ser97Phe) GRCh37: Chr18:29175172 GRCh38: Chr18:31595209	TTR	S97F	Cardiovascular phenotype	Pathogenic (Apr 30, 2021)	criteria provided, single submitter
Select item 1342286.	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) GRCh37: Chr18:29175172 GRCh38: Chr18:31595209	TTR	S97Y	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis, Hyperthyroxinemia, dystransthyretinemic, Carpal tunnel syndrome 1, Charcot-Marie-Tooth disease, not specified, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129442487.	NM_000371.4(TTR):c.293A>T (p.Tyr98Phe) GRCh37: Chr18:29175175 GRCh38: Chr18:31595212	TTR	Y98F	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145225588.	NM_000371.4(TTR):c.311T>C (p.Ile104Thr) GRCh37: Chr18:29175193 GRCh38: Chr18:31595230	TTR	I104T	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1342389.	NM_000371.4(TTR):c.311T>G (p.Ile104Ser) GRCh37: Chr18:29175193 GRCh38: Chr18:31595230	TTR	I104S	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85391890.	NM_000371.4(TTR):c.323A>G (p.His108Arg) GRCh37: Chr18:29175205 GRCh38: Chr18:31595242	TTR	H108R	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107332491.	NM_000371.4(TTR):c.325G>A (p.Glu109Lys) GRCh37: Chr18:29175207 GRCh38: Chr18:31595244	TTR	E109K	not provided, Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1344292.	NM_000371.4(TTR):c.325G>C (p.Glu109Gln) GRCh37: Chr18:29175207 GRCh38: Chr18:31595244	TTR	E109Q	Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1346893.	NM_000371.4(TTR):c.349G>T (p.Ala117Ser) GRCh37: Chr18:29178543 GRCh38: Chr18:31598580	TTR	A117S	Cardiovascular phenotype, Carpal tunnel syndrome 1, Hyperthyroxinemia, dystransthyretinemic, Amyloidogenic transthyretin amyloidosis, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205705594.	NM_000371.4(TTR):c.350C>A (p.Ala117Asp) GRCh37: Chr18:29178544 GRCh38: Chr18:31598581	TTR	A117D	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 1344895.	NM_000371.4(TTR):c.350C>G (p.Ala117Gly) GRCh37: Chr18:29178544 GRCh38: Chr18:31598581	TTR	A117G	Amyloidogenic transthyretin amyloidosis	Pathogenic (Jan 1, 1994)	no assertion criteria provided
Select item 213814796.	NM_000371.4(TTR):c.377C>A (p.Thr126Asn) GRCh37: Chr18:29178571 GRCh38: Chr18:31598608	TTR	T126N	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 1345097.	NM_000371.4(TTR):c.379A>G (p.Ile127Val) GRCh37: Chr18:29178573 GRCh38: Chr18:31598610	TTR	I127V	Hyperthyroxinemia, dystransthyretinemic, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype, not specified, not provided, Amyloidogenic transthyretin amyloidosis	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107332598.	NM_000371.4(TTR):c.381T>G (p.Ile127Met) GRCh37: Chr18:29178575 GRCh38: Chr18:31598612	TTR	I127M	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1342499.	NM_000371.4(TTR):c.391C>A (p.Leu131Met) GRCh37: Chr18:29178585 GRCh38: Chr18:31598622	TTR	L131M	Amyloidogenic transthyretin amyloidosis	Pathogenic (Oct 1, 1993)	no assertion criteria provided
Select item 13449100.	NM_000371.4(TTR):c.400T>C (p.Tyr134His) GRCh37: Chr18:29178594 GRCh38: Chr18:31598631	TTR	Y134H	Carpal tunnel syndrome 1	Pathogenic (Feb 1, 1994)	no assertion criteria provided

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