"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GUncertain significance
Select item 993730	NM_000371.4(TTR):c.69+30C>T	TTR	Single nucleotide variant (intron variant)	not provided	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 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 2921203	NM_000371.4(TTR):c.85A>T (p.Lys29Ter)	TTR (K29*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 13455	NM_000371.4(TTR):c.118G>A (p.Val40Ile)	TTR (V40I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 661615	NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	TTR (S43N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
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)	Cardiomyopathy +6 more	GPathogenic
Select item 13456	NM_000371.4(TTR):c.157T>C (p.Phe53Leu)	TTR (F53L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 644083	NM_000371.4(TTR):c.173A>C (p.Asp58Ala)	TTR (D58A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
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 994143	NM_000371.4(TTR):c.201-32C>T	TTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811320	NM_000371.4(TTR):c.201-27C>A	TTR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2920997	NM_000371.4(TTR):c.205A>C (p.Thr69Pro)	TTR (T69P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1004913	NM_000371.4(TTR):c.211G>A (p.Glu71Lys)	TTR (E71K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 811803	NM_000371.4(TTR):c.221A>G (p.Glu74Gly)	TTR (E74G)	Single nucleotide variant (missense variant)	not specified +3 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 577420	NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	TTR (T80I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13453	NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	TTR (F84L)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +4 more	GPathogenic
Select item 13446	NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	TTR (I88L)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 572251	NM_000371.4(TTR):c.263T>C (p.Ile88Thr)	TTR (I88T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 13466	NM_000371.4(TTR):c.265T>C (p.Tyr89His)	TTR (Y89H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 495842	NM_000371.4(TTR):c.302C>T (p.Ala101Val)	TTR (A101V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 13423	NM_000371.4(TTR):c.311T>G (p.Ile104Ser)	TTR (I104S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1073324	NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	TTR (E109K)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 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 1572392	NM_000371.4(TTR):c.336+18C>T	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +4 more	GLikely benign
Select item 36891	NM_000371.4(TTR):c.336+19G>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +3 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)	Cardiomyopathy +5 more	GBenign
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 181690	NM_000371.4(TTR):c.355G>A (p.Asp119Asn)	TTR (D119N)	Single nucleotide variant (missense variant)	not provided +3 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 13450	NM_000371.4(TTR):c.379A>G (p.Ile127Val)	TTR (I127V)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
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 440376	NM_000371.4(TTR):c.408T>C (p.Tyr136=)	TTR	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 13434	NM_000371.4(TTR):c.416C>T (p.Thr139Met)	TTR (T139M)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 43455	NM_000371.4(TTR):c.417G>A (p.Thr139=)	TTR	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	Cardiomyopathy +12 more	GPathogenic
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 43452	NM_000371.4(TTR):c.3_11del	TTR	Deletion (3 prime UTR variant)	Cardiomyopathy +4 more	GBenign
Select item 326564	NM_000371.4(TTR):c.*21C>A	TTR	Single nucleotide variant (3 prime UTR variant)	Amyloidosis, hereditary systemic 1 +1 more	GBenign

ClinVar

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Items: 49