"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 181693	NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	TTR (P44S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 495838	NM_000371.4(TTR):c.147C>T (p.Ala49=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +7 more	GPathogenic
Select item 13430	NM_000371.4(TTR):c.149T>C (p.Val50Ala)	TTR (V50A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 633448	NM_000371.4(TTR):c.186G>T (p.Glu62Asp)	TTR (E62D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178280	NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	TTR (F64L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 938206	NM_000371.4(TTR):c.200G>T (p.Gly67Val)	TTR (G67V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic/Likely pathogenic
Select item 13451	NM_000371.4(TTR):c.200G>C (p.Gly67Ala)	TTR (G67A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 495840	NM_000371.4(TTR):c.201-16C>T	TTR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36889	NM_000371.4(TTR):c.208A>C (p.Ser70Arg)	TTR (S70R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GLikely pathogenic
Select item 36890	NM_000371.4(TTR):c.210T>A (p.Ser70Arg)	TTR (S70R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 13429	NM_000371.4(TTR):c.210T>G (p.Ser70Arg)	TTR (S70R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 13420	NM_000371.4(TTR):c.233T>A (p.Leu78His)	TTR (L78H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13421	NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	TTR (T80A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 495841	NM_000371.4(TTR):c.244G>A (p.Glu82Lys)	TTR (E82K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 13453	NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	TTR (F84L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 845368	NM_000371.4(TTR):c.252T>G (p.Phe84Leu)	TTR (F84L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GPathogenic/Likely pathogenic
Select item 13466	NM_000371.4(TTR):c.265T>C (p.Tyr89His)	TTR (Y89H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic/Likely pathogenic
Select item 181695	NM_000371.4(TTR):c.280G>C (p.Asp94His)	TTR (D94H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 13422	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	TTR (S97Y)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 181696	NM_000371.4(TTR):c.301G>A (p.Ala101Thr)	TTR (A101T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 495842	NM_000371.4(TTR):c.302C>T (p.Ala101Val)	TTR (A101V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 495843	NM_000371.4(TTR):c.303A>C (p.Ala101=)	TTR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 13442	NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	TTR (E109Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 13427	NM_000371.4(TTR):c.328C>A (p.His110Asn)	TTR (H110N)	Single nucleotide variant (missense variant)	Heart failure +7 more	GConflicting classifications of pathogenicity
Select item 36891	NM_000371.4(TTR):c.336+19G>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +4 more	GConflicting classifications of pathogenicity
Select item 178662	NM_000371.4(TTR):c.337-14_337-11del	TTR	Microsatellite (intron variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 36892	NM_000371.4(TTR):c.337-18G>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +5 more	GBenign
Select item 13468	NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	TTR (A117S)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 43453	NM_000371.4(TTR):c.360C>T (p.Ser120=)	TTR	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 404412	NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	TTR (R124C)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +9 more	GUncertain significance
Select item 13458	NM_000371.4(TTR):c.371G>A (p.Arg124His)	TTR (R124H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 517738	NM_000371.4(TTR):c.372C>G (p.Arg124=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +3 more	GBenign/Likely benign
Select item 13450	NM_000371.4(TTR):c.379A>G (p.Ile127Val)	TTR (I127V)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 197136	NM_000371.4(TTR):c.384C>T (p.Ala128=)	TTR	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 43454	NM_000371.4(TTR):c.385G>A (p.Ala129Thr)	TTR (A129T)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 43455	NM_000371.4(TTR):c.417G>A (p.Thr139=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 229597	NM_000371.4(TTR):c.418G>T (p.Ala140Ser)	TTR (A140S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 13460	NM_000371.4(TTR):c.421GTC[1] (p.Val142del)	TTR (V142del)	Microsatellite (inframe_deletion)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	Bone marrow hypocellularity +12 more	GPathogenic
Select item 181706	NM_000371.4(TTR):c.437A>G (p.Lys146Arg)	TTR (K146R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 43452	NM_000371.4(TTR):c.3_11del	TTR	Deletion (3 prime UTR variant)	not specified +4 more	GBenign
Select item 421225	NM_000371.4(TTR):c.*9TCC[1]	TTR	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 51