"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 13452	NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	TTR (G26S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
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 178279	NM_000371.4(TTR):c.140A>G (p.Asn47Ser)	TTR (N47S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic
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 13421	NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	TTR (T80A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +4 more	GPathogenic/Likely pathogenic
Select item 13446	NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	TTR (I88L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +4 more	GPathogenic/Likely pathogenic
Select item 13427	NM_000371.4(TTR):c.328C>A (p.His110Asn)	TTR (H110N)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 178662	NM_000371.4(TTR):c.337-14_337-11del	TTR	Microsatellite (intron variant)	Amyloidosis, hereditary systemic 1 +4 more	GConflicting classifications of pathogenicity
Select item 228190	NM_000371.4(TTR):c.337-13T>C	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +2 more	GLikely benign
Select item 229596	NM_000371.4(TTR):c.337-3T>C	TTR	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 166364	NM_000371.4(TTR):c.354C>T (p.Asn118=)	TTR	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43453	NM_000371.4(TTR):c.360C>T (p.Ser120=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 667177	NM_000371.4(TTR):c.369C>G (p.Arg123=)	TTR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 197136	NM_000371.4(TTR):c.384C>T (p.Ala128=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 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 13434	NM_000371.4(TTR):c.416C>T (p.Thr139Met)	TTR (T139M)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43455	NM_000371.4(TTR):c.417G>A (p.Thr139=)	TTR	Single nucleotide variant (synonymous variant)	not provided +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)	ATTRV122I amyloidosis +12 more	GPathogenic
Select item 43452	NM_000371.4(TTR):c.3_11del	TTR	Deletion (3 prime UTR variant)	not specified +4 more	GBenign

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Items: 26