"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ENG"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810423	NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)	ENG (T617M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3381054	NM_001114753.3(ENG):c.1833G>A (p.Trp611Ter)	ENG (W429* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 213213	NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)	ENG, LOC102723566 (L572* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 407125	NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)	ENG, LOC102723566 (V568I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 839929	NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)	ENG, LOC102723566	Deletion (non-coding transcript variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 1343355	NM_001114753.3(ENG):c.1686+1G>T	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 407135	NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)	LOC102723566, ENG (C549Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 583144	NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)	ENG, LOC102723566 (R529C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +4 more	GConflicting classifications of pathogenicity
Select item 16670	NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)	ENG, LOC102723566 (S336fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 213215	NM_001114753.3(ENG):c.1550_1551del (p.Val517fs)	ENG, LOC102723566 (V517fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 960198	NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)	ENG, LOC102723566 (K331R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
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 1163030	NM_001114753.3(ENG):c.1429-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 213216	NM_001114753.3(ENG):c.1428+1G>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 983196	NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)	ENG, LOC102723566 (Y273* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 572526	NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)	LOC102723566, ENG (S267fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 528065	NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)	ENG, LOC102723566 (V440G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 458335	NM_001114753.3(ENG):c.1311G>C (p.Arg437=)	LOC102723566, ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic/Likely pathogenic
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 1163031	NM_001114753.3(ENG):c.1240A>T (p.Met414Leu)	ENG, LOC102723566 (M232L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 407136	NM_001114753.3(ENG):c.1199del (p.Gly400fs)	LOC102723566, ENG (G218fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 458328	NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	ENG	Single nucleotide variant (synonymous variant)	ENG-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 3381055	NM_001114753.3(ENG):c.1101dup (p.Met368fs)	ENG (M186fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 213214	NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	ENG (T361fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 2683657	NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter)	ENG (Q178* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2683066	NM_001114753.3(ENG):c.1076T>G (p.Ile359Ser)	ENG (I177S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683658	NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)	ENG (R151fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 663310	NM_001114753.3(ENG):c.992-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic
Select item 575140	NM_001114753.3(ENG):c.991+2T>C	ENG	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 2683659	NM_001114753.3(ENG):c.954_955delinsACGAAGACAA (p.Leu319fs)	ENG (L137fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2714297	NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)	ENG (L317Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 871270	NM_001114753.3(ENG):c.943G>A (p.Val315Met)	ENG (V133M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 528052	NM_001114753.3(ENG):c.911G>A (p.Arg304Gln)	ENG (R304Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618623	NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	ENG (L300P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 422216	NM_001114753.3(ENG):c.895del (p.Leu299fs)	ENG (L117fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 2180401	NM_001114753.3(ENG):c.885_886del (p.Pro296fs)	ENG (P114fs +1 more)	Microsatellite (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic/Likely pathogenic
Select item 1343357	NM_001114753.3(ENG):c.781_782dup (p.Trp261fs)	ENG (W261fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3381056	NM_001114753.3(ENG):c.765_773delinsGG (p.Pro256fs)	ENG (P256fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 982480	NM_001114753.3(ENG):c.772del (p.Tyr258fs)	ENG (Y258fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 439652	NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)	ENG (Q254* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic
Select item 1163032	NM_001114753.3(ENG):c.758T>C (p.Leu253Pro)	ENG (L253P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 640315	NM_001114753.3(ENG):c.743del (p.Asp248fs)	ENG (D66fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 3381057	NM_001114753.3(ENG):c.732_739dup (p.Leu247fs)	ENG (L247fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 419981	NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	ENG (S59fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 407121	NM_001114753.3(ENG):c.713T>A (p.Val238Glu)	ENG (V238E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1163503	NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)	ENG	Deletion (inframe_indel +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 220826	NM_001114753.3(ENG):c.640_643del (p.Gly214fs)	ENG (G214fs +1 more)	Microsatellite (frameshift variant)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 956747	NM_001114753.3(ENG):c.569T>A (p.Met190Lys)	ENG (M190K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213211	NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)	ENG (Q188* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 407119	NM_001114753.3(ENG):c.524-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 641795	NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	ENG (A175S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 439644	NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	ENG (R171*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 983204	NM_001114753.3(ENG):c.496dup (p.Gln166fs)	ENG (Q166fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 834356	NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)	ENG (Q166P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1343358	NM_001114753.3(ENG):c.457_458del (p.Arg153fs)	ENG (R153fs)	Microsatellite (frameshift variant +1 more)	Cardiovascular phenotype +2 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 1163504	NM_001114753.3(ENG):c.397dup (p.Val133fs)	ENG (V133fs)	Duplication (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 2034993	NM_001114753.3(ENG):c.392dup (p.Val133fs)	ENG (V133fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 810952	NM_001114753.3(ENG):c.360+5G>A	ENG	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 265370	NM_001114753.3(ENG):c.360+1G>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 265371	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG (R93*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 528051	NM_001114753.3(ENG):c.224del (p.Pro75fs)	ENG (P75fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 660455	NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)	ENG (Q56*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 572196	NM_001114753.3(ENG):c.145G>T (p.Val49Phe)	ENG (V49F)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 937410	NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)	ENG (Q48*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 1163505	NM_001114753.3(ENG):c.132_133del (p.Thr45fs)	ENG (T45fs)	Microsatellite (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 1163506	NM_001114753.3(ENG):c.67+4G>A	ENG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3381058	NM_001114753.3(ENG):c.67+2del	ENG	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1343359	NM_001114753.3(ENG):c.67+2T>C	ENG	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 449321	NM_001114753.3(ENG):c.67+1G>A	ENG	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 565357	NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)	ENG (L8P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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)	Hereditary hemorrhagic telangiectasia +3 more	GConflicting classifications of pathogenicity
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 1120158	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120157	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120156	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120155	Single allele	ENG	Duplication	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic

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Items: 79