C4551861[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417397	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 528087	NC_000009.12:g.(?_127815662)_(127820057_?)del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 914989	NM_001114753.3(ENG):c.1852+42C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 577031	NM_001114753.3(ENG):c.1852+21C>G	ENG (Q625E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 benignFDA Recognized database
Select item 995600	NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	ENG (G421R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenicFDA Recognized database
Select item 365085	NM_001114753.3(ENG):c.1806C>T (p.Ile602=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 213203	NM_001114753.3(ENG):c.1794T>C (p.Gly598=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 407114	NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser)	ENG (G594S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 237024	NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)	ENG (V588I +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benignFDA Recognized database
Select item 862626	NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)	ENG (L405F +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 1056407	NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)	ENG, LOC102723566 (P395R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 414310	NM_001114753.3(ENG):c.1712G>A (p.Arg571His)	ENG, LOC102723566 (R571H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +4 more	GLikely benign
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 significanceFDA Recognized database
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 839929	NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)	ENG, LOC102723566	Deletion (non-coding transcript variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic
Select item 528084	NM_001114753.3(ENG):c.1695T>C (p.His565=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1331646	NM_001114753.3(ENG):c.1687-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 571701	NM_001114753.3(ENG):c.1236_1687-77del	ENG, LOC102723566	Deletion (splice acceptor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 407130	NM_001114753.3(ENG):c.1686+6T>G	LOC102723566, ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 2441222	NM_001114753.3(ENG):c.1686G>C (p.Gln562His)	ENG, LOC102723566 (Q380H +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 995686	NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	ENG, LOC102723566 (C367G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenicFDA 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 benignFDA Recognized database
Select item 213212	NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	ENG, LOC102723566 (R529H +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenicFDA Recognized database
Select item 583144	NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)	ENG, LOC102723566 (R529C +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +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 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 237020	NM_001114753.3(ENG):c.1533G>A (p.Ala511=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GBenign/Likely benign
Select item 1413427	NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln)	ENG, LOC102723566 (R328Q +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 161231	NM_001114753.3(ENG):c.1510G>A (p.Val504Met)	ENG, LOC102723566 (V504M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benignFDA Recognized database
Select item 842548	NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	ENG, LOC102723566 (D309fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 862475	NM_001114753.3(ENG):c.1470dup (p.Asp491fs)	ENG, LOC102723566 (D491fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic
Select item 383511	NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	ENG, LOC102723566 (Q489* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 255142	NM_001114753.3(ENG):c.1452C>T (p.Ser484=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
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)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 578331	NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)	ENG, LOC102723566 (R296fs +1 more)	Microsatellite (frameshift variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 365086	NM_001114753.3(ENG):c.1429-9_1429-6dup	ENG, LOC102723566	Duplication (intron variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 994140	NM_001114753.3(ENG):c.1429-8C>G	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
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 365087	NM_001114753.3(ENG):c.1419C>T (p.Ser473=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 983198	NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)	ENG, LOC102723566 (Q289* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 237018	NM_001114753.3(ENG):c.1407G>A (p.Pro469=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2683960	NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)	ENG, LOC102723566 (E286* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 458336	NM_001114753.3(ENG):c.1389C>T (p.Ala463=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 213202	NM_001114753.3(ENG):c.1374A>G (p.Pro458=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 983196	NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)	ENG, LOC102723566 (Y273* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 572526	NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)	ENG, LOC102723566 (S267fs +1 more)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 574425	NM_001114753.3(ENG):c.1335G>A (p.Met445Ile)	ENG, LOC102723566 (M445I +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 528065	NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)	ENG, LOC102723566 (V440G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenicFDA Recognized database
Select item 365088	NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)	ENG, LOC102723566 (K439T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benignFDA Recognized database
Select item 569033	NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)	ENG, LOC102723566 (K438R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 1352569	NM_001114753.3(ENG):c.1312-3C>G	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significanceFDA Recognized database
Select item 962612	NM_001114753.3(ENG):c.1311+5G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely pathogenic
Select item 2136817	NM_001114753.3(ENG):c.1311+2T>C	LOC102723566, ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 854739	NM_001114753.3(ENG):c.1311G>A (p.Arg437=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic
Select item 618082	NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	ENG, LOC102723566 (R437W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 439662	NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	ENG, LOC102723566 (Q436* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 994342	NM_001114753.3(ENG):c.1290G>T (p.Leu430=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 161230	NM_001114753.3(ENG):c.1274C>T (p.Ala425Val)	ENG, LOC102723566 (A425V +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 162498	NM_001114753.3(ENG):c.1273-2A>G	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 439646	NM_001114753.3(ENG):c.1273-5C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1514999	NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)	ENG, LOC102723566 (I239M +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 914518	NM_001114753.3(ENG):c.1258A>G (p.Met420Val)	ENG, LOC102723566 (M420V +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 914519	NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)	ENG, LOC102723566 (M414T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 458331	NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)	ENG, LOC102723566 (S407N +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely pathogenic
Select item 993901	NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)	LOC102723566, ENG (R224G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 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 429544	NM_001114753.3(ENG):c.1195del (p.Arg399fs)	LOC102723566, ENG (R217fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 639827	NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)	ENG, LOC102723566 (F207del +1 more)	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 565574	NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)	ENG, LOC102723566 (L387P +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significanceFDA Recognized database
Select item 237015	NM_001114753.3(ENG):c.1135-7G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GBenign/Likely benign
Select item 699230	NM_001114753.3(ENG):c.1135-8C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 584014	NC_000009.12:g.(?_127824284)_(127829847_?)del	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely pathogenic
Select item 583974	NC_000009.12:g.(?_127824284)_(127824994_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia +1 more	GLikely pathogenic
Select item 583412	NC_000009.12:g.(?_127824284)_(127854482_?)del	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 458320	NC_000009.11:g.(?_130586563)_(130592126_?)dup	ENG	Duplication	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 699288	NM_001114753.3(ENG):c.1134+9A>T	ENG (E381D)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 458328	NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	ENG	Single nucleotide variant (synonymous variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 458327	NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)	ENG (A378V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 458326	NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs)	ENG (E193fs +1 more)	Microsatellite (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1701581	NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	ENG (K192S +1 more)	Indel (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 414307	NM_001114753.3(ENG):c.1098C>T (p.Asp366=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +3 more	GConflicting classifications of pathogenicity
Select item 1356315	NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn)	ENG (D184N +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
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)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GLikely benign
Select item 1330635	NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)	ENG (C181R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic/Likely pathogenic
Select item 213214	NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	ENG (T361fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 2683961	NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)	ENG (I177T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 915042	NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)	ENG (M174T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
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 1439555	NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg)	ENG (K165R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
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 618084	NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)	ENG (P340L +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 663310	NM_001114753.3(ENG):c.992-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Hereditary hemorrhagic telangiectasia +2 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	GPathogenicFDA Recognized database
Select item 1768569	NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)	ENG (C330* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic
Select item 2856634	NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)	ENG (L319fs +1 more)	Insertion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic/Likely pathogenic
Select item 528080	NM_001114753.3(ENG):c.954G>A (p.Pro318=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GLikely benign
Select item 871270	NM_001114753.3(ENG):c.943G>A (p.Val315Met)	ENG (V133M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GConflicting classifications of pathogenicity

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