ClinVar for MedGen (Select 442573) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2169602	NM_000371.4(TTR):c.235A>G (p.Thr79Ala)	TTR (T79A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GConflicting classifications of pathogenicity
Select item 1765057	NM_000371.4(TTR):c.88T>G (p.Cys30Gly)	TTR (C30G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1572392	NM_000371.4(TTR):c.336+18C>T	TTR	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 1423499	NM_000371.4(TTR):c.37G>A (p.Gly13Arg)	TTR (G13R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 1419301	NM_000371.4(TTR):c.151C>A (p.His51Asn)	TTR (H51N)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GUncertain significance
Select item 1366051	NM_000371.4(TTR):c.314C>T (p.Ser105Phe)	TTR (S105F)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +3 more	GUncertain significance
Select item 1313300	NM_000371.4(TTR):c.83C>T (p.Ser28Phe)	TTR (S28F)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +4 more	GUncertain significance
Select item 1235184	NM_000371.4(TTR):c.-3A>G	TTR	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1230561	NM_000371.4(TTR):c.-15C>T	TTR	Single nucleotide variant (5 prime UTR variant)	Carpal tunnel syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1119640	NM_000371.4(TTR):c.40C>T (p.Leu14=)	TTR	Single nucleotide variant (synonymous variant)	Carpal tunnel syndrome 1 +4 more	GBenign/Likely benign
Select item 1040987	NM_000371.4(TTR):c.361G>A (p.Gly121Ser)	TTR (G121S)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +3 more	GUncertain significance
Select item 1024110	NM_000371.4(TTR):c.200+4A>G	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 1012273	NM_000371.4(TTR):c.[239C>T];[424G>A]			Amyloidosis, hereditary systemic 1	GPathogenic
Select item 940630	NM_000371.4(TTR):c.13C>T (p.Arg5Cys)	TTR (R5C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 808383	NM_000371.4(TTR):c.209G>A (p.Ser70Asn)	TTR (S70N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 744399	NM_000371.4(TTR):c.-743A>T	TTR	Single nucleotide variant	Hyperthyroxinemia, dystransthyretinemic +2 more	GBenign/Likely benign
Select item 698845	NM_000371.4(TTR):c.121C>A (p.Arg41=)	TTR	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 658582	NM_000371.4(TTR):c.11_13del (p.His4del)	TTR (H4del)	Deletion (inframe_deletion)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 641759	NM_000371.4(TTR):c.127A>C (p.Ser43Arg)	TTR (S43R)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, dystransthyretinemic +2 more	GUncertain significance
Select item 582458	NM_000371.4(TTR):c.406T>C (p.Tyr136His)	TTR (Y136H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 572251	NM_000371.4(TTR):c.263T>C (p.Ile88Thr)	TTR (I88T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +4 more	GUncertain significance
Select item 538167	NM_000371.4(TTR):c.141T>C (p.Asn47=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +3 more	GLikely benign
Select item 440376	NM_000371.4(TTR):c.408T>C (p.Tyr136=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +4 more	GBenign/Likely benign
Select item 404412	NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	TTR (R124C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +9 more	GUncertain significance
Select item 391990	NM_000371.4(TTR):c.70-20C>T	TTR	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 389548	NM_000371.4(TTR):c.70-19G>A	TTR	Single nucleotide variant (intron variant)	Amyloidosis, hereditary systemic 1 +4 more	GLikely benign
Select item 384179	NM_000371.4(TTR):c.78T>C (p.Gly26=)	TTR	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 326565	NM_000371.4(TTR):c.*143G>C	TTR	Single nucleotide variant (3 prime UTR variant)	Carpal tunnel syndrome 1 +2 more	GUncertain significance
Select item 326545	NM_000371.4(TTR):c.11_13dup (p.His4dup)	TTR	Duplication (inframe_insertion)	Hyperthyroxinemia, dystransthyretinemic +4 more	GUncertain significance
Select item 326544	NM_000371.4(TTR):c.-61G>A	TTR	Single nucleotide variant	Carpal tunnel syndrome 1 +2 more	GUncertain significance
Select item 246201	NM_000371.4(TTR):c.136A>G (p.Ile46Val)	TTR (I46V)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +3 more	GUncertain significance
Select item 181698	NM_000371.4(TTR):c.368G>A (p.Arg123His)	TTR (R123H)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 181697	NM_000371.4(TTR):c.14G>A (p.Arg5His)	TTR (R5H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 181696	NM_000371.4(TTR):c.301G>A (p.Ala101Thr)	TTR (A101T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +5 more	GConflicting classifications of pathogenicity
Select item 181695	NM_000371.4(TTR):c.280G>C (p.Asp94His)	TTR (D94H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 181691	NM_000371.4(TTR):c.439G>T (p.Glu147Ter)	TTR (E147*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 178280	NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	TTR (F64L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 178279	NM_000371.4(TTR):c.140A>G (p.Asn47Ser)	TTR (N47S)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 137848	NM_000371.4(TTR):c.70-7C>T	TTR	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 43456	NM_000371.4(TTR):c.68C>T (p.Thr23Met)	TTR (T23M)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +5 more	GUncertain significance
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 13468	NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	TTR (A117S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +4 more	GPathogenic/Likely pathogenic
Select item 13454	NM_000371.4(TTR):c.386C>T (p.Ala129Val)	TTR (A129V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GUncertain significance
Select item 13453	NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	TTR (F84L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +4 more	GPathogenic
Select item 13452	NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	TTR (G26S)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 1 +6 more	GBenign/Likely benign
Select item 13450	NM_000371.4(TTR):c.379A>G (p.Ile127Val)	TTR (I127V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +6 more	GPathogenic/Likely pathogenic
Select item 13446	NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	TTR (I88L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 13434	NM_000371.4(TTR):c.416C>T (p.Thr139Met)	TTR (T139M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	ATTRV122I amyloidosis +12 more	GPathogenic/Likely pathogenic
Select item 13422	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	TTR (S97Y)	Single nucleotide variant (missense variant)	not specified +6 more	GPathogenic/Likely pathogenic
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic

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Items: 51