ClinVar for MedGen (Select 414031) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 331

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2584356	NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)	TTR (D38Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 2424330	NC_000018.9:g.(?_29078215)_(29178638_?)dup	DSG2, TTR	Duplication	Amyloidosis, hereditary systemic 1 +1 more	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 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 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 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 1735778	NM_000371.4(TTR):c.387C>A (p.Ala129=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1733861	NM_000371.4(TTR):c.367C>G (p.Arg123Gly)	TTR (R123G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 1733311	NM_000371.4(TTR):c.361G>C (p.Gly121Arg)	TTR (G121R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
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 1713323	NM_000371.4(TTR):c.316C>G (p.Pro106Ala)	TTR (P106A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
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 1673536	NM_000371.4(TTR):c.21C>T (p.Leu7=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1652843	NM_000371.4(TTR):c.200+14G>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1644969	NM_000371.4(TTR):c.411C>T (p.Ser137=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely benign
Select item 1615973	NM_000371.4(TTR):c.200+20T>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely 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 1602836	NM_000371.4(TTR):c.201-10C>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely 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 1591998	NM_000371.4(TTR):c.70-19G>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1578268	NM_000371.4(TTR):c.200+15A>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1574962	NM_000371.4(TTR):c.200+17C>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1572658	NM_000371.4(TTR):c.396C>T (p.Ser132=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1572392	NM_000371.4(TTR):c.336+18C>T	TTR	Single nucleotide variant (intron variant)	Hyperthyroxinemia, dystransthyretinemic +3 more	GLikely benign
Select item 1531097	NM_000371.4(TTR):c.223C>T (p.Leu75=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 1524375	NM_000371.4(TTR):c.328C>G (p.His110Asp)	TTR (H110D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1519705	NM_000371.4(TTR):c.221A>C (p.Glu74Ala)	TTR (E74A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
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 1511776	NM_000371.4(TTR):c.296G>C (p.Trp99Ser)	TTR (W99S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
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 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 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 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 1458932	NM_000371.4(TTR):c.173A>T (p.Asp58Val)	TTR (D58V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic

<< First< Prev

Page of 4