C0039445[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161229	NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	ENG (S615L +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 213203	NM_001114753.3(ENG):c.1794T>C (p.Gly598=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +4 more	GBenign/Likely benign
Select item 504728	NM_001114753.3(ENG):c.1742-15G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 282707	NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)	ENG, LOC102723566 (R571C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 237022	NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	ENG, LOC102723566 (G545S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 163406	NM_001114753.3(ENG):c.1096G>C (p.Asp366His)	ENG (D366H +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +4 more	GBenign/Likely benign
Select item 137210	NM_001114753.3(ENG):c.1060C>T (p.Leu354=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
Select item 137209	NM_001114753.3(ENG):c.1029C>T (p.Thr343=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
Select item 365090	NM_001114753.3(ENG):c.909C>T (p.Ala303=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 163407	NM_001114753.3(ENG):c.818C>T (p.Thr273Ile)	ENG (T273I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 255146	NM_001114753.3(ENG):c.732C>T (p.Pro244=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GBenign/Likely benign
Select item 213200	NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	ENG (G191D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
Select item 402828	NM_001114753.3(ENG):c.374T>C (p.Val125Ala)	ENG (V125A)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 407139	NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)	ENG (H108Y)	Indel (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 237026	NM_001114753.3(ENG):c.219+22C>T	ENG	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137208	NM_001114753.3(ENG):c.207G>A (p.Leu69=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
Select item 237016	NM_001114753.3(ENG):c.120C>T (p.Gly40=)	ENG	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 178774	NM_001114753.3(ENG):c.14C>T (p.Thr5Met)	ENG (T5M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 407113	NM_001114753.3(ENG):c.-127C>T	ENG	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3076019	NM_000020.3(ACVRL1):c.404del (p.Leu135fs)	ACVRL1 (L135fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 426017	NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)	ACVRL1 (L273P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 3076067	NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs)	ACVRL1 (Y182fs +2 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 429940	NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	ACVRL1 (E379K)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +3 more	GPathogenic/Likely pathogenic

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Items: 23