"Ambry Genetics"[submitter] AND "LOC102723566"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1779018	NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)	ENG, LOC102723566 (D396fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic/Likely pathogenic
Select item 1778848	NM_001114753.3(ENG):c.1725C>T (p.Ile575=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1778662	NM_001114753.3(ENG):c.1718A>T (p.Asn573Ile)	LOC102723566, ENG (N573I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 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 935180	NM_001114753.3(ENG):c.1698del (p.Thr567fs)	ENG, LOC102723566 (T385fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 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)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3232714	NM_001114753.3(ENG):c.1689del (p.Val564fs)	ENG, LOC102723566 (V382fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 1076795	NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)	ENG, LOC102723566 (E381* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 580415	NM_000118.3(ENG):c.1687delG	LOC102723566, ENG	Deletion (splice acceptor variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 1331646	NM_001114753.3(ENG):c.1687-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1645093	NM_001114753.3(ENG):c.1687-19CT[2]	ENG, LOC102723566	Microsatellite (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GBenign/Likely benign
Select item 1777928	NM_001114753.3(ENG):c.1682_1686+15del	LOC102723566, ENG	Deletion (splice donor variant)	Cardiovascular phenotype	GPathogenic
Select item 1777993	NM_001114753.3(ENG):c.1686+1G>C	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 439649	NM_001114753.3(ENG):c.1686+1G>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 651394	NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)	ENG, LOC102723566 (Q380* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2236167	NM_001114753.3(ENG):c.1672G>C (p.Gly558Arg)	ENG, LOC102723566 (G376R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 528076	NM_001114753.3(ENG):c.1671C>T (p.Thr557=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1777521	NM_001114753.3(ENG):c.1662T>C (p.Arg554=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 419980	NM_001114753.3(ENG):c.1657del (p.Leu553fs)	ENG, LOC102723566 (L371fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1777360	NM_001114753.3(ENG):c.1656C>T (p.Ala552=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1777334	NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)	ENG, LOC102723566 (A370V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1777085	NM_001114753.3(ENG):c.1643_1653delinsCCGCAGCT (p.Ser548_Val551delinsThrAlaAla)	ENG, LOC102723566	Indel (inframe_indel)	Cardiovascular phenotype	GUncertain significance
Select item 1142954	NM_001114753.3(ENG):c.1650G>A (p.Thr550=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 3232713	NM_001114753.3(ENG):c.1647C>T (p.Cys549=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1776975	NM_001114753.3(ENG):c.1639_1645dup (p.Cys549fs)	ENG, LOC102723566 (C367fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
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 696743	NM_001114753.3(ENG):c.1632C>T (p.Thr544=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 960260	NM_001114753.3(ENG):c.1626dup (p.Lys543fs)	ENG, LOC102723566 (K543fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 1776434	NM_001114753.3(ENG):c.1613_1614del (p.Thr538fs)	ENG, LOC102723566 (T538fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1084106	NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 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)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
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 1156862	NM_001114753.3(ENG):c.1584G>A (p.Pro528=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 193973	NM_001114753.3(ENG):c.1572C>T (p.Pro524=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 280020	NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs)	ENG, LOC102723566 (L337fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 439657	NM_001114753.3(ENG):c.1541del (p.Gly514fs)	ENG, LOC102723566 (G332fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 3232712	NM_001114753.3(ENG):c.1539G>A (p.Lys513=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2566914	NM_001114753.3(ENG):c.1530G>T (p.Arg510=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1774348	NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro)	ENG, LOC102723566 (L324P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 982467	NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)	LOC102723566, ENG (E323* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1774126	NM_001114753.3(ENG):c.1509_1510insCCAC (p.Val504fs)	LOC102723566, ENG (V322fs +1 more)	Insertion (frameshift variant)	Cardiovascular phenotype	GPathogenic
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 benign FDA Recognized database
Select item 565615	NM_001114753.3(ENG):c.1509del (p.Val504fs)	ENG, LOC102723566 (V504fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3232711	NM_001114753.3(ENG):c.1500G>A (p.Glu500=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1773699	NM_001114753.3(ENG):c.1488_1498delinsATTGGGCCTT (p.Asp496fs)	ENG, LOC102723566 (D496fs +1 more)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2049534	NM_001114753.3(ENG):c.1497T>C (p.Pro499=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1773854	NM_001114753.3(ENG):c.1494G>A (p.Gly498=)	LOC102723566, ENG	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1773847	NM_001114753.3(ENG):c.1494del (p.Pro499fs)	ENG, LOC102723566 (P317fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 842548	NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	ENG, LOC102723566 (D309fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +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)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic
Select item 458338	NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)	LOC102723566, ENG (L490S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic/Likely pathogenic
Select item 1773227	NM_001114753.3(ENG):c.1465_1466del (p.Gln489fs)	ENG, LOC102723566 (Q489fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 383511	NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	ENG, LOC102723566 (Q489* +1 more)	Single nucleotide variant (nonsense +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)	Telangiectasia, hereditary hemorrhagic, type 1 +4 more	GBenign/Likely benign
Select item 1772688	NM_001114753.3(ENG):c.1440_1449del (p.Val483fs)	ENG, LOC102723566 (V301fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 414309	NM_001114753.3(ENG):c.1446C>T (p.Ser482=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 698159	NM_001114753.3(ENG):c.1437G>A (p.Val479=)	LOC102723566, ENG	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GLikely 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 1772435	NM_001114753.3(ENG):c.1429-2del	ENG, LOC102723566	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 1772437	NM_001114753.3(ENG):c.1429-5T>G	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 213217	NM_001114753.3(ENG):c.1428+2T>C	LOC102723566, ENG	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
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 1074832	NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)	ENG, LOC102723566 (Q294* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 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 983198	NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)	ENG, LOC102723566 (Q289* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +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 567291	NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu)	ENG, LOC102723566 (P469L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 458336	NM_001114753.3(ENG):c.1389C>T (p.Ala463=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 1771335	NM_001114753.3(ENG):c.1383C>T (p.Leu461=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 213202	NM_001114753.3(ENG):c.1374A>G (p.Pro458=)	LOC102723566, ENG	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 1770148	NM_001114753.3(ENG):c.1331A>G (p.Asn444Ser)	ENG, LOC102723566 (N262S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 453196	NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)	ENG, LOC102723566 (C442* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 707666	NM_001114753.3(ENG):c.1323C>T (p.His441=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
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 213210	NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)	ENG, LOC102723566 (K438* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1488732	NM_001114753.3(ENG):c.1312-1G>C	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1769689	NM_001114753.3(ENG):c.1312-2A>G	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1769661	NM_001114753.3(ENG):c.1311+2T>G	LOC102723566, ENG	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GPathogenic
Select item 1769660	NM_001114753.3(ENG):c.1311+2T>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1769659	NM_001114753.3(ENG):c.1311+1G>C	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GPathogenic
Select item 854739	NM_001114753.3(ENG):c.1311G>A (p.Arg437=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
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 1769657	NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro)	ENG, LOC102723566 (R437P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3232710	NM_001114753.3(ENG):c.1309C>A (p.Arg437=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely 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 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 2245790	NM_001114753.3(ENG):c.1301C>T (p.Ser434Leu)	ENG, LOC102723566 (S252L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1769420	NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)	ENG, LOC102723566 (S434* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 1769244	NM_001114753.3(ENG):c.1297dup (p.Ser433fs)	ENG, LOC102723566 (S433fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1769217	NM_001114753.3(ENG):c.1296C>T (p.Ser432=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 528078	NM_001114753.3(ENG):c.1293G>A (p.Ser431=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 449318	NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)	ENG, LOC102723566 (S431* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 2184053	NM_001114753.3(ENG):c.1290G>A (p.Leu430=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1769098	NM_001114753.3(ENG):c.1290G>C (p.Leu430=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 994342	NM_001114753.3(ENG):c.1290G>T (p.Leu430=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 652180	NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu)	ENG, LOC102723566 (A243E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 162498	NM_001114753.3(ENG):c.1273-2A>G	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	not specified +4 more	GPathogenic/Likely pathogenic

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