ClinVar for MedGen (Select 414031) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24229731.	NC_000018.9:g.(?_29098182)_(29178638_?)dup GRCh37: Chr18:29098182-29178638	TTR, DSG2		Arrhythmogenic right ventricular dysplasia 10, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 21905952.	NM_000371.4(TTR):c.201-7C>T GRCh37: Chr18:29175076 GRCh38: Chr18:31595113	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 21819633.	NM_000371.4(TTR):c.339G>A (p.Val113=) GRCh37: Chr18:29178533 GRCh38: Chr18:31598570	TTR		Amyloidogenic transthyretin amyloidosis	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 21761994.	NM_000371.4(TTR):c.54T>C (p.Ser18=) GRCh37: Chr18:29171919 GRCh38: Chr18:31591956	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 21728305.	NM_000371.4(TTR):c.69+6T>C GRCh37: Chr18:29171940 GRCh38: Chr18:31591977	TTR		Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 21696036.	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 21696027.	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 21696018.	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 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 216452310.	NM_000371.4(TTR):c.70-4C>T GRCh37: Chr18:29172855 GRCh38: Chr18:31592892	TTR		Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Likely benign (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214169611.	NM_000371.4(TTR):c.337-16C>G GRCh37: Chr18:29178515 GRCh38: Chr18:31598552	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 213814712.	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 213814513.	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 213814414.	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 212105115.	NM_000371.4(TTR):c.147C>A (p.Ala49=) GRCh37: Chr18:29172936 GRCh38: Chr18:31592973	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 211968616.	NM_000371.4(TTR):c.65del (p.Pro22fs) GRCh37: Chr18:29171928 GRCh38: Chr18:31591965	TTR	P22fs	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 211074017.	NM_000371.4(TTR):c.45A>G (p.Val15=) GRCh37: Chr18:29171910 GRCh38: Chr18:31591947	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 209958118.	NM_000371.4(TTR):c.434C>A (p.Pro145His) GRCh37: Chr18:29178628 GRCh38: Chr18:31598665	TTR	P145H	Amyloidogenic transthyretin amyloidosis, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209377919.	NM_000371.4(TTR):c.35C>T (p.Ala12Val) GRCh37: Chr18:29171900 GRCh38: Chr18:31591937	TTR	A12V	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 205705520.	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 205116821.	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 203500022.	NM_000371.4(TTR):c.70-9T>A GRCh37: Chr18:29172850 GRCh38: Chr18:31592887	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 201471523.	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 201240224.	NM_000371.4(TTR):c.174T>C (p.Asp58=) GRCh37: Chr18:29172963 GRCh38: Chr18:31593000	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 201088025.	NM_000371.4(TTR):c.335A>G (p.Glu112Gly) GRCh37: Chr18:29175217 GRCh38: Chr18:31595254	TTR	E112G	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200233026.	NM_000371.4(TTR):c.108T>A (p.Val36=) GRCh37: Chr18:29172897 GRCh38: Chr18:31592934	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 200217927.	NM_000371.4(TTR):c.408T>G (p.Tyr136Ter) GRCh37: Chr18:29178602 GRCh38: Chr18:31598639	TTR	Y136*	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 196533928.	NM_000371.4(TTR):c.201-10C>A GRCh37: Chr18:29175073 GRCh38: Chr18:31595110	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 195189329.	NM_000371.4(TTR):c.390G>C (p.Leu130=) GRCh37: Chr18:29178584 GRCh38: Chr18:31598621	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 180733930.	NM_000371.4(TTR):c.184G>A (p.Glu62Lys) GRCh37: Chr18:29172973 GRCh38: Chr18:31593010	TTR	E62K	Amyloidogenic transthyretin amyloidosis, not provided	Uncertain significance (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180355131.	NM_000371.4(TTR):c.383C>T (p.Ala128Val) GRCh37: Chr18:29178577 GRCh38: Chr18:31598614	TTR	A128V	not provided, Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 179956632.	NM_000371.4(TTR):c.232C>G (p.Leu78Val) GRCh37: Chr18:29175114 GRCh38: Chr18:31595151	TTR	L78V	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Dec 10, 2021)	no assertion criteria provided
Select item 178636233.	NM_000371.4(TTR):c.212A>C (p.Glu71Ala) GRCh37: Chr18:29175094 GRCh38: Chr18:31595131	TTR	E71A	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173386134.	NM_000371.4(TTR):c.367C>G (p.Arg123Gly) GRCh37: Chr18:29178561 GRCh38: Chr18:31598598	TTR	R123G	Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172065435.	NM_000371.4(TTR):c.110T>C (p.Leu37Pro) GRCh37: Chr18:29172899 GRCh38: Chr18:31592936	TTR	L37P	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 171332336.	NM_000371.4(TTR):c.316C>G (p.Pro106Ala) GRCh37: Chr18:29175198 GRCh38: Chr18:31595235	TTR	P106A	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 171225937.	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 167353638.	NM_000371.4(TTR):c.21C>T (p.Leu7=) GRCh37: Chr18:29171886 GRCh38: Chr18:31591923	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jan 21, 2021)	criteria provided, single submitter
Select item 165284339.	NM_000371.4(TTR):c.200+14G>T GRCh37: Chr18:29173003 GRCh38: Chr18:31593040	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 164496940.	NM_000371.4(TTR):c.411C>T (p.Ser137=) GRCh37: Chr18:29178605 GRCh38: Chr18:31598642	TTR		Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Likely benign (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161597341.	NM_000371.4(TTR):c.200+20T>C GRCh37: Chr18:29173009 GRCh38: Chr18:31593046	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Apr 12, 2021)	criteria provided, single submitter
Select item 161292842.	NM_000371.4(TTR):c.70-5C>T GRCh37: Chr18:29172854 GRCh38: Chr18:31592891	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Nov 13, 2020)	criteria provided, single submitter
Select item 160283643.	NM_000371.4(TTR):c.201-10C>T GRCh37: Chr18:29175073 GRCh38: Chr18:31595110	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Sep 4, 2021)	criteria provided, single submitter
Select item 159375344.	NM_000371.4(TTR):c.69+12T>C GRCh37: Chr18:29171946 GRCh38: Chr18:31591983	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 159242245.	NM_000371.4(TTR):c.69+13G>C GRCh37: Chr18:29171947 GRCh38: Chr18:31591984	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 159199846.	NM_000371.4(TTR):c.70-19G>T GRCh37: Chr18:29172840 GRCh38: Chr18:31592877	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 157826847.	NM_000371.4(TTR):c.200+15A>G GRCh37: Chr18:29173004 GRCh38: Chr18:31593041	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 157496248.	NM_000371.4(TTR):c.200+17C>A GRCh37: Chr18:29173006 GRCh38: Chr18:31593043	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (May 19, 2021)	criteria provided, single submitter
Select item 157265849.	NM_000371.4(TTR):c.396C>T (p.Ser132=) GRCh37: Chr18:29178590 GRCh38: Chr18:31598627	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 157239250.	NM_000371.4(TTR):c.336+18C>T GRCh37: Chr18:29175236 GRCh38: Chr18:31595273	TTR		Hyperthyroxinemia, dystransthyretinemic, Amyloidogenic transthyretin amyloidosis, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153109751.	NM_000371.4(TTR):c.223C>T (p.Leu75=) GRCh37: Chr18:29175105 GRCh38: Chr18:31595142	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 152437552.	NM_000371.4(TTR):c.328C>G (p.His110Asp) GRCh37: Chr18:29175210 GRCh38: Chr18:31595247	TTR	H110D	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 151970553.	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 151852754.	NM_000371.4(TTR):c.85A>G (p.Lys29Glu) GRCh37: Chr18:29172874 GRCh38: Chr18:31592911	TTR	K29E	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 151177655.	NM_000371.4(TTR):c.296G>C (p.Trp99Ser) GRCh37: Chr18:29175178 GRCh38: Chr18:31595215	TTR	W99S	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 150231656.	NM_000371.4(TTR):c.91C>T (p.Pro31Ser) GRCh37: Chr18:29172880 GRCh38: Chr18:31592917	TTR	P31S	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 149098657.	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 148840858.	NM_000371.4(TTR):c.65C>T (p.Pro22Leu) GRCh37: Chr18:29171930 GRCh38: Chr18:31591967	TTR	P22L	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147100859.	NM_000371.4(TTR):c.12T>A (p.His4Gln) GRCh37: Chr18:29171877 GRCh38: Chr18:31591914	TTR	H4Q	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 145893260.	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 145480161.	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 145225562.	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 144367363.	NM_000371.4(TTR):c.201-1G>A GRCh37: Chr18:29175082 GRCh38: Chr18:31595119	TTR		Amyloidogenic transthyretin amyloidosis	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 142349964.	NM_000371.4(TTR):c.37G>A (p.Gly13Arg) GRCh37: Chr18:29171902 GRCh38: Chr18:31591939	TTR	G13R	Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis, Hyperthyroxinemia, dystransthyretinemic, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141930165.	NM_000371.4(TTR):c.151C>A (p.His51Asn) GRCh37: Chr18:29172940 GRCh38: Chr18:31592977	TTR	H51N	Amyloidogenic transthyretin amyloidosis, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis, Hyperthyroxinemia, dystransthyretinemic	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137297066.	NM_000371.4(TTR):c.124G>A (p.Gly42Ser) GRCh37: Chr18:29172913 GRCh38: Chr18:31592950	TTR	G42S	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 136605167.	NM_000371.4(TTR):c.314C>T (p.Ser105Phe) GRCh37: Chr18:29175196 GRCh38: Chr18:31595233	TTR	S105F	Hyperthyroxinemia, dystransthyretinemic, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135977468.	NM_000371.4(TTR):c.114T>A (p.Asp38Glu) GRCh37: Chr18:29172903 GRCh38: Chr18:31592940	TTR	D38E	Cardiovascular phenotype, Amyloidogenic transthyretin amyloidosis	Pathogenic (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135875869.	NM_000371.4(TTR):c.340G>T (p.Val114Leu) GRCh37: Chr18:29178534 GRCh38: Chr18:31598571	TTR	V114L	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 135834970.	NM_000371.4(TTR):c.121C>T (p.Arg41Ter) GRCh37: Chr18:29172910 GRCh38: Chr18:31592947	TTR	R41*	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jul 12, 2021)	criteria provided, single submitter
Select item 133362471.	NM_000371.4(TTR):c.97_99dup (p.Met33dup) GRCh37: Chr18:29172883-29172884 GRCh38: Chr18:31592920-31592921	TTR		Amyloidogenic transthyretin amyloidosis	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133346672.	NM_000371.4(TTR):c.425T>C (p.Val142Ala) GRCh37: Chr18:29178619 GRCh38: Chr18:31598656	TTR	V142A	Amyloidogenic transthyretin amyloidosis	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132941873.	NM_000371.4(TTR):c.367C>T (p.Arg123Cys) GRCh37: Chr18:29178561 GRCh38: Chr18:31598598	TTR	R123C	Hereditary ATTR amyloidosis, Amyloidogenic transthyretin amyloidosis, Cardiomyopathy	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131330074.	NM_000371.4(TTR):c.83C>T (p.Ser28Phe) GRCh37: Chr18:29172872 GRCh38: Chr18:31592909	TTR	S28F	not provided, Amyloidogenic transthyretin amyloidosis	Uncertain significance (Sep 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 129442475.	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 128449076.	NM_000371.4(TTR):c.70-16T>C GRCh37: Chr18:29172843 GRCh38: Chr18:31592880	TTR		Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Sep 3, 2022)	criteria provided, conflicting interpretations
Select item 126078277.	NM_000371.4(TTR):c.24C>T (p.Leu8=) GRCh37: Chr18:29171889 GRCh38: Chr18:31591926	TTR		not provided, Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Benign/Likely benign (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 123056178.	NM_000371.4(TTR):c.-15C>T GRCh37: Chr18:29171851 GRCh38: Chr18:31591888	TTR		Cardiovascular phenotype, not provided, Amyloidogenic transthyretin amyloidosis, Carpal tunnel syndrome 1, Hyperthyroxinemia, dystransthyretinemic	Conflicting interpretations of pathogenicity (Jul 8, 2021)	criteria provided, conflicting interpretations
Select item 117832779.	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 114104580.	NM_000371.4(TTR):c.300G>A (p.Lys100=) GRCh37: Chr18:29175182 GRCh38: Chr18:31595219	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Dec 25, 2020)	criteria provided, single submitter
Select item 112767981.	NM_000371.4(TTR):c.423C>T (p.Val141=) GRCh37: Chr18:29178617 GRCh38: Chr18:31598654	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Oct 16, 2019)	criteria provided, single submitter
Select item 112630582.	NM_000371.4(TTR):c.66T>C (p.Pro22=) GRCh37: Chr18:29171931 GRCh38: Chr18:31591968	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jan 29, 2019)	criteria provided, single submitter
Select item 112490883.	NM_000371.4(TTR):c.315C>A (p.Ser105=) GRCh37: Chr18:29175197 GRCh38: Chr18:31595234	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 111964084.	NM_000371.4(TTR):c.40C>T (p.Leu14=) GRCh37: Chr18:29171905 GRCh38: Chr18:31591942	TTR		not provided, Hyperthyroxinemia, dystransthyretinemic, Amyloidogenic transthyretin amyloidosis, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis	Benign/Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111361785.	NM_000371.4(TTR):c.391C>T (p.Leu131=) GRCh37: Chr18:29178585 GRCh38: Chr18:31598622	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Dec 17, 2019)	criteria provided, single submitter
Select item 108562186.	NM_000371.4(TTR):c.200+8G>T GRCh37: Chr18:29172997 GRCh38: Chr18:31593034	TTR		Amyloidogenic transthyretin amyloidosis	Likely benign (Jan 30, 2020)	criteria provided, single submitter
Select item 108372287.	NM_000371.4(TTR):c.156G>A (p.Val52=) GRCh37: Chr18:29172945 GRCh38: Chr18:31592982	TTR		Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107540888.	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 107540789.	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 107332590.	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 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 106839292.	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 106750093.	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 106749994.	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 106642995.	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 106464396.	NM_000371.4(TTR):c.185A>C (p.Glu62Ala) GRCh37: Chr18:29172974 GRCh38: Chr18:31593011	TTR	E62A	Amyloidogenic transthyretin amyloidosis	Uncertain significance (Nov 13, 2020)	no assertion criteria provided
Select item 105835697.	NM_000371.4(TTR):c.441A>G (p.Glu147=) GRCh37: Chr18:29178635 GRCh38: Chr18:31598672	TTR		not provided, Amyloidogenic transthyretin amyloidosis	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104651598.	NM_000371.4(TTR):c.336+5G>A GRCh37: Chr18:29175223 GRCh38: Chr18:31595260	TTR		Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104098799.	NM_000371.4(TTR):c.361G>A (p.Gly121Ser) GRCh37: Chr18:29178555 GRCh38: Chr18:31598592	TTR	G121S	Hyperthyroxinemia, dystransthyretinemic, Amyloidogenic transthyretin amyloidosis, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis, Cardiovascular phenotype	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1024110100.	NM_000371.4(TTR):c.200+4A>G GRCh37: Chr18:29172993 GRCh38: Chr18:31593030	TTR		Amyloidogenic transthyretin amyloidosis	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter

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