"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ENG"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695265	NM_001114753.3(ENG):c.*431T>G	ENG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 425462	NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)	ENG (M657T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 810422	NM_001114753.3(ENG):c.1853-14GCTCCC[3]	ENG	Microsatellite (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely benign
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 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 237024	NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)	ENG (V588I +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +4 more	GConflicting classifications of pathogenicity
Select item 407130	NM_001114753.3(ENG):c.1686+6T>G	ENG, LOC102723566	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 161231	NM_001114753.3(ENG):c.1510G>A (p.Val504Met)	LOC102723566, ENG (V504M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 255142	NM_001114753.3(ENG):c.1452C>T (p.Ser484=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 578331	NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)	ENG, LOC102723566 (R296fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 365087	NM_001114753.3(ENG):c.1419C>T (p.Ser473=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 213202	NM_001114753.3(ENG):c.1374A>G (p.Pro458=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +4 more	GBenign/Likely benign
Select item 618082	NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	ENG, LOC102723566 (R437W +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 237017	NM_001114753.3(ENG):c.1273-4G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 1701581	NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	ENG (K192S +1 more)	Indel (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 407115	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	ENG (G331S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 528080	NM_001114753.3(ENG):c.954G>A (p.Pro318=)	ENG	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 365090	NM_001114753.3(ENG):c.909C>T (p.Ala303=)	ENG	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 528083	NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)	ENG (E284K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1138937	NM_001114753.3(ENG):c.705G>A (p.Thr235=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 1112152	NM_001114753.3(ENG):c.663G>A (p.Leu221=)	ENG	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 226041	NM_001114753.3(ENG):c.596G>A (p.Arg199His)	ENG (R17H +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
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 871272	NM_001114753.3(ENG):c.523+1G>C	ENG	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 757918	NM_001114753.3(ENG):c.405C>G (p.Thr135=)	ENG	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 161232	NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)	ENG (P131L)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
Select item 414312	NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)	ENG (P130S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 810425	NM_001114753.3(ENG):c.387G>A (p.Glu129=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely benign
Select item 365094	NM_001114753.3(ENG):c.322C>T (p.His108Tyr)	ENG (H108Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 365095	NM_001114753.3(ENG):c.321G>T (p.Leu107=)	ENG	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2659516	NM_001114753.3(ENG):c.319C>T (p.Leu107=)	ENG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 414305	NM_001114753.3(ENG):c.225G>A (p.Pro75=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 812071	NM_001114753.3(ENG):c.219+23G>A	ENG	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 237026	NM_001114753.3(ENG):c.219+22C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +3 more	GConflicting classifications of pathogenicity
Select item 407128	NM_001114753.3(ENG):c.219G>A (p.Thr73=)	ENG	Single nucleotide variant (synonymous variant +1 more)	See cases +6 more	GConflicting classifications of pathogenicity
Select item 237016	NM_001114753.3(ENG):c.120C>T (p.Gly40=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
Select item 1333047	NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)	ENG (C30R)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GLikely pathogenic
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 1655299	NM_001114753.3(ENG):c.-70C>T	ENG	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign

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Items: 39