"ENG-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1782359	NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)	ENG (S453L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2499105	NM_001114753.3(ENG):c.1853-8_1853-3del	ENG	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 914988	NM_001114753.3(ENG):c.1852+51C>G	ENG	Single nucleotide variant (intron variant)	ENG-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 914989	NM_001114753.3(ENG):c.1852+42C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 3032884	NM_001114753.3(ENG):c.1852+37C>A	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	ENG-related disorder	GLikely benign
Select item 237025	NM_001114753.3(ENG):c.1845G>T (p.Ser615=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 2637159	NM_001114753.3(ENG):c.1664_1676del (p.Pro555fs)	ENG, LOC102723566 (P373fs +1 more)	Deletion (frameshift variant)	ENG-related disorder	GLikely pathogenic
Select item 528076	NM_001114753.3(ENG):c.1671C>T (p.Thr557=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 213212	NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	ENG, LOC102723566 (R529H +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +4 more	GConflicting classifications of pathogenicity
Select item 2637077	NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter)	ENG, LOC102723566 (Q326* +1 more)	Single nucleotide variant (nonsense)	ENG-related disorder	GPathogenic
Select item 1466744	NM_001114753.3(ENG):c.1517T>A (p.Leu506His)	ENG, LOC102723566 (L324H +1 more)	Single nucleotide variant (missense variant)	ENG-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3051408	NM_001114753.3(ENG):c.1499_1512del (p.Glu500fs)	ENG, LOC102723566 (E318fs +1 more)	Deletion (frameshift variant)	ENG-related disorder	GLikely pathogenic
Select item 414304	NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)	ENG, LOC102723566 (V483I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ENG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 982495	NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	ENG, LOC102723566 (N241S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 429506	NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)	ENG, LOC102723566 (R217fs +1 more)	Deletion (frameshift variant)	ENG-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 567802	NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)	ENG, LOC102723566 (W390* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 458328	NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +4 more	GPathogenic/Likely pathogenic
Select item 163406	NM_001114753.3(ENG):c.1096G>C (p.Asp366His)	ENG (D366H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 365089	NM_001114753.3(ENG):c.1095C>T (p.Asp365=)	ENG	Single nucleotide variant (synonymous variant)	ENG-related disorder +3 more	GLikely benign
Select item 1788269	NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)	ENG (C181Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 618084	NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)	ENG (P340L +1 more)	Single nucleotide variant (missense variant)	ENG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 661043	NM_001114753.3(ENG):c.990C>T (p.Cys330=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 3035938	NM_001114753.3(ENG):c.891A>G (p.Gln297=)	ENG	Single nucleotide variant (synonymous variant)	ENG-related disorder +1 more	GLikely benign
Select item 1061804	NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)	ENG (Q115E +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 862246	NM_001114753.3(ENG):c.787_789del (p.Ile263del)	ENG (I263del +1 more)	Deletion (inframe_indel +1 more)	ENG-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 767615	NM_001114753.3(ENG):c.684G>A (p.Ser228=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 3030513	NM_001114753.3(ENG):c.642C>G (p.Gly214=)	ENG	Single nucleotide variant (synonymous variant)	ENG-related disorder	GLikely benign
Select item 161233	NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	ENG (G214S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1513279	NM_001114753.3(ENG):c.609G>C (p.Leu203Phe)	ENG (L203F +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 1484952	NM_001114753.3(ENG):c.592C>A (p.Pro198Thr)	ENG (P16T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
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 237028	NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr)	ENG (D189Y +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 407119	NM_001114753.3(ENG):c.524-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +4 more	GPathogenic
Select item 237027	NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	ENG (W149C)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 414312	NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)	ENG (P130S)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
Select item 2630666	NM_001114753.3(ENG):c.219+2T>A	ENG	Single nucleotide variant (splice donor variant)	ENG-related disorder	GLikely pathogenic
Select item 237021	NM_001114753.3(ENG):c.159C>T (p.Cys53=)	ENG	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 374952	NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)	ENG (R3C)	Single nucleotide variant (missense variant)	ENG-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 414302	NM_001114753.3(ENG):c.-9G>A	ENG	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 986898	NM_001114753.3(ENG):c.-10C>T	ENG	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 40