ClinVar for Gene (Select 7276) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338803	NM_000371.4(TTR):c.260G>A (p.Gly87Glu)	TTR (G87E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3242761	NC_000018.9:g.(?_29178511)_(29178638_?)dup	TTR	Duplication	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 3242760	NC_000018.9:g.(?_29078215)_(29178638_?)del	DSG2, TTR	Deletion	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 3242756	NC_000018.9:g.(?_28647981)_(29178638_?)del	TTR, DSC1 +5 more	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 3242754	NC_000018.9:g.(?_29121136)_(29178638_?)dup	DSG2, TTR	Duplication	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3231342	NM_000371.4(TTR):c.441A>T (p.Glu147Asp)	TTR (E147D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231341	NM_000371.4(TTR):c.336G>A (p.Glu112=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 2974972	NM_000371.4(TTR):c.70-20del	TTR	Deletion (intron variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2970966	NM_000371.4(TTR):c.390G>A (p.Leu130=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2921203	NM_000371.4(TTR):c.85A>T (p.Lys29Ter)	TTR (K29*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2920997	NM_000371.4(TTR):c.205A>C (p.Thr69Pro)	TTR (T69P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2919019	NM_000371.4(TTR):c.365C>T (p.Pro122Leu)	TTR (P122L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2916831	NM_000371.4(TTR):c.268A>G (p.Lys90Glu)	TTR (K90E)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
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 2914555	NM_000371.4(TTR):c.6T>G (p.Ala2=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2908982	NM_000371.4(TTR):c.336+10C>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2895500	NM_000371.4(TTR):c.337-12C>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 2887302	NM_000371.4(TTR):c.200+12A>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2884079	NM_000371.4(TTR):c.305T>C (p.Leu102Pro)	TTR (L102P)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2882281	NM_000371.4(TTR):c.200+7del	TTR	Deletion (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 2879873	NM_000371.4(TTR):c.433C>T (p.Pro145Ser)	TTR (P145S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 2878745	NM_000371.4(TTR):c.347C>G (p.Thr116Arg)	TTR (T116R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2867524	NM_000371.4(TTR):c.381T>C (p.Ile127=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2848229	NM_000371.4(TTR):c.180C>T (p.Thr60=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2838613	NM_000371.4(TTR):c.201-4A>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 2829100	NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs)	TTR (R41fs)	Insertion (frameshift variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2828648	NM_000371.4(TTR):c.337-3T>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2812512	NM_000371.4(TTR):c.160A>C (p.Arg54=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2809846	NM_000371.4(TTR):c.427A>G (p.Thr143Ala)	TTR (T143A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 2785768	NM_000371.4(TTR):c.333A>G (p.Ala111=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2764946	NM_000371.4(TTR):c.249A>G (p.Glu83=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2763618	NM_000371.4(TTR):c.198T>G (p.Ser66=)	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 2762712	NM_000371.4(TTR):c.326A>G (p.Glu109Gly)	TTR (E109G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 2747679	NM_000371.4(TTR):c.201-9A>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2736721	NM_000371.4(TTR):c.311T>A (p.Ile104Asn)	TTR (I104N)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
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 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 2700781	NM_000371.4(TTR):c.270dup (p.Val91fs)	TTR (V91fs)	Duplication (frameshift variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 2691146	NM_000371.4(TTR):c.201-8C>A	TTR	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 2691145	NM_000371.4(TTR):c.*8C>A	TTR	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2683454	NM_000371.4(TTR):c.193_194del (p.Ala65fs)	TTR (A65fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2681628	NM_000371.4(TTR):c.400T>A (p.Tyr134Asn)	TTR (Y134N)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2610176	NM_000371.4(TTR):c.117delinsAGTCCTCGGTCAAA (p.Arg41fs)	TTR (R41fs)	Indel (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 2584356	NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)	TTR (D38Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 2567263	NM_000371.4(TTR):c.70-1G>A	TTR	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 2473849	NM_000371.4(TTR):c.337G>A (p.Val113Met)	TTR (V113M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2442894	NM_000371.4(TTR):c.231del (p.Leu78fs)	TTR (L78fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 2424330	NC_000018.9:g.(?_29078215)_(29178638_?)dup	DSG2, TTR	Duplication	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 2424326	NC_000018.9:g.(?_28647981)_(29648347_?)dup	B4GALT6, DSC1 +9 more	Duplication	not provided	GUncertain significance
Select item 2422973	NC_000018.9:g.(?_29098182)_(29178638_?)dup	DSG2, TTR	Duplication	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 2190595	NM_000371.4(TTR):c.201-7C>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2181963	NM_000371.4(TTR):c.339G>A (p.Val113=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
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 2172830	NM_000371.4(TTR):c.69+6T>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 2169603	NM_000371.4(TTR):c.268A>C (p.Lys90Gln)	TTR (K90Q)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 2169602	NM_000371.4(TTR):c.235A>G (p.Thr79Ala)	TTR (T79A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 2169601	NM_000371.4(TTR):c.208A>G (p.Ser70Gly)	TTR (S70G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
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 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 2141696	NM_000371.4(TTR):c.337-16C>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2138147	NM_000371.4(TTR):c.377C>A (p.Thr126Asn)	TTR (T126N)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 2138145	NM_000371.4(TTR):c.165G>C (p.Lys55Asn)	TTR (K55N)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
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 2121051	NM_000371.4(TTR):c.147C>A (p.Ala49=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2119686	NM_000371.4(TTR):c.65del (p.Pro22fs)	TTR (P22fs)	Deletion (frameshift variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
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 2099581	NM_000371.4(TTR):c.434C>A (p.Pro145His)	TTR (P145H)	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 2057055	NM_000371.4(TTR):c.350C>A (p.Ala117Asp)	TTR (A117D)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
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 2035000	NM_000371.4(TTR):c.70-9T>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2014715	NM_000371.4(TTR):c.251T>A (p.Phe84Tyr)	TTR (F84Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 2012402	NM_000371.4(TTR):c.174T>C (p.Asp58=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 2010880	NM_000371.4(TTR):c.335A>G (p.Glu112Gly)	TTR (E112G)	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 2002179	NM_000371.4(TTR):c.408T>G (p.Tyr136Ter)	TTR (Y136*)	Single nucleotide variant (nonsense)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1965339	NM_000371.4(TTR):c.201-10C>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1951893	NM_000371.4(TTR):c.390G>C (p.Leu130=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1809496	GRCh37/hg19 18q12.1(chr18:29152719-29422344)x3	B4GALT6, SLC25A52 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807339	NM_000371.4(TTR):c.184G>A (p.Glu62Lys)	TTR (E62K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1803551	NM_000371.4(TTR):c.383C>T (p.Ala128Val)	TTR (A128V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1799566	NM_000371.4(TTR):c.232C>G (p.Leu78Val)	TTR (L78V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1797565	NM_000371.4(TTR):c.290C>T (p.Ser97Phe)	TTR (S97F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GPathogenic
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 1791134	NM_000371.4(TTR):c.242A>C (p.Glu81Ala)	TTR (E81A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
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 1784465	NM_000371.4(TTR):c.201-5T>C	TTR	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
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 1776772	NM_000371.4(TTR):c.162A>C (p.Arg54Ser)	TTR (R54S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 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 1740215	NM_000371.4(TTR):c.438G>A (p.Lys146=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1738746	NM_000371.4(TTR):c.420T>C (p.Ala140=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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