"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 28

	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)	Amyloidosis, hereditary systemic 1 +8 more	GConflicting classifications of pathogenicity
Select item 470719	NM_000371.4(TTR):c.62G>C (p.Gly21Ala)	TTR (G21A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 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 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +6 more	GPathogenic
Select item 178280	NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	TTR (F64L)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +7 more	GConflicting classifications of pathogenicity
Select item 2691146	NM_000371.4(TTR):c.201-8C>A	TTR	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 2442894	NM_000371.4(TTR):c.231del (p.Leu78fs)	TTR (L78fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 507566	NM_000371.4(TTR):c.231G>A (p.Gly77=)	TTR	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 1 +2 more	GLikely benign
Select item 495842	NM_000371.4(TTR):c.302C>T (p.Ala101Val)	TTR (A101V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +3 more	GConflicting classifications of pathogenicity
Select item 13427	NM_000371.4(TTR):c.328C>A (p.His110Asn)	TTR (H110N)	Single nucleotide variant (missense variant)	Heart failure +6 more	GConflicting classifications of pathogenicity
Select item 166364	NM_000371.4(TTR):c.354C>T (p.Asn118=)	TTR	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 626841	NM_000371.4(TTR):c.356A>C (p.Asp119Ala)	TTR (D119A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 626842	NM_000371.4(TTR):c.358T>C (p.Ser120Pro)	TTR (S120P)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 43453	NM_000371.4(TTR):c.360C>T (p.Ser120=)	TTR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 1329418	NM_000371.4(TTR):c.367C>T (p.Arg123Cys)	TTR (R123C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GUncertain significance
Select item 181698	NM_000371.4(TTR):c.368G>A (p.Arg123His)	TTR (R123H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GUncertain significance
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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 197136	NM_000371.4(TTR):c.384C>T (p.Ala128=)	TTR	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 626843	NM_000371.4(TTR):c.385G>T (p.Ala129Ser)	TTR (A129S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 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 412959	NM_000371.4(TTR):c.405C>G (p.Ser135=)	TTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 13434	NM_000371.4(TTR):c.416C>T (p.Thr139Met)	TTR (T139M)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 43455	NM_000371.4(TTR):c.417G>A (p.Thr139=)	TTR	Single nucleotide variant (synonymous variant)	not specified +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)	ATTRV122I amyloidosis +9 more	GPathogenic/Likely pathogenic
Select item 1009600	NM_000371.4(TTR):c.431A>G (p.Asn144Ser)	TTR (N144S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 43452	NM_000371.4(TTR):c.3_11del	TTR	Deletion (3 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 2691145	NM_000371.4(TTR):c.*8C>A	TTR	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance

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Items: 28