TTR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 60208	GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3	B4GALT6, DSC1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152371	GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3	B4GALT6, DSG1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 744399	NM_000371.4(TTR):c.-743A>T	TTR	Single nucleotide variant	Amyloidosis, hereditary systemic 1 +2 more	GBenign/Likely benign
Select item 890861	NM_000371.3(TTR):c.-102G>T	TTR	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 326544	NM_000371.3(TTR):c.-61G>A	TTR	Single nucleotide variant	Carpal tunnel syndrome 1 +2 more	GUncertain significance
Select item 509654	NM_000371.3(TTR):c.-46C>T	TTR	Single nucleotide variant	not specified	GLikely benign
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 2914555	NM_000371.4(TTR):c.6T>G (p.Ala2=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 658582	NM_000371.4(TTR):c.11_13del (p.His4del)	TTR (H4del)	Deletion (inframe_deletion)	Amyloidosis, hereditary systemic 1 +2 more	GUncertain significance
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 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 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 284011	NM_000371.4(TTR):c.13C>G (p.Arg5Gly)	TTR (R5G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 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 245725	NM_000371.4(TTR):c.25C>T (p.Leu9Phe)	TTR (L9F)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
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 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 857014	NM_000371.4(TTR):c.35C>A (p.Ala12Asp)	TTR (A12D)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1423499	NM_000371.4(TTR):c.37G>A (p.Gly13Arg)	TTR (G13R)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +2 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 2110740	NM_000371.4(TTR):c.45A>G (p.Val15=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 811759	NM_000371.4(TTR):c.47T>A (p.Phe16Tyr)	TTR (F16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330783	NM_000371.4(TTR):c.50T>C (p.Val17Ala)	TTR (V17A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 181705	NM_000371.4(TTR):c.52T>G (p.Ser18Ala)	TTR (S18A)	Single nucleotide variant (missense variant)	not provided	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 2762958	NM_000371.4(TTR):c.57G>A (p.Glu19=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 2119686	NM_000371.4(TTR):c.65del (p.Pro22fs)	TTR (P22fs)	Deletion (frameshift variant)	Amyloidosis, hereditary systemic 1	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 1126305	NM_000371.4(TTR):c.66T>C (p.Pro22=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 640710	NM_000371.4(TTR):c.69G>C (p.Thr23=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
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 644589	NM_000371.4(TTR):c.69+1G>A	TTR	Single nucleotide variant (splice donor variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 1335305	NM_000371.4(TTR):c.69+2T>C	TTR	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 930309	NM_000371.4(TTR):c.69+5G>C	TTR	Single nucleotide variant (intron variant)	TTR-related disorder +1 more	GUncertain significance
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 513002	NM_000371.4(TTR):c.69+7G>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +1 more	GLikely benign
Select item 741882	NM_000371.4(TTR):c.69+10T>C	TTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 993730	NM_000371.4(TTR):c.69+30C>T	TTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974972	NM_000371.4(TTR):c.70-20del	TTR	Deletion (intron variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 391990	NM_000371.4(TTR):c.70-20C>T	TTR	Single nucleotide variant (intron variant)	Hyperthyroxinemia, dystransthyretinemic +3 more	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 389548	NM_000371.4(TTR):c.70-19G>A	TTR	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GLikely benign
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 2035000	NM_000371.4(TTR):c.70-9T>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1	GLikely benign
Select item 386609	NM_000371.4(TTR):c.70-9T>C	TTR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 137848	NM_000371.4(TTR):c.70-7C>T	TTR	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely 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 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 856655	NM_000371.4(TTR):c.74C>T (p.Thr25Ile)	TTR (T25I)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 917085	NM_000371.4(TTR):c.75C>T (p.Thr25=)	TTR	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
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 1313300	NM_000371.4(TTR):c.83C>T (p.Ser28Phe)	TTR (S28F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2921203	NM_000371.4(TTR):c.85A>T (p.Lys29Ter)	TTR (K29*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 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 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 1333624	NM_000371.4(TTR):c.97_99dup (p.Met33dup)	TTR	Duplication (inframe_insertion)	Amyloidosis, hereditary systemic 1	GUncertain significance
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 13457	NM_000371.4(TTR):c.95T>C (p.Leu32Pro)	TTR (L32P)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic
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 2002330	NM_000371.4(TTR):c.108T>A (p.Val36=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1	GLikely benign
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 2584356	NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)	TTR (D38Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	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 13463	NM_000371.4(TTR):c.113A>G (p.Asp38Gly)	TTR (D38G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	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 756250	NM_000371.4(TTR):c.114T>C (p.Asp38=)	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 565560	NM_000371.4(TTR):c.116C>A (p.Ala39Asp)	TTR (A39D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic

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