C0039445[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 949975	NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)	CCNH, RASA1 (R1010* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia +1 more	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 2737791	NM_001114753.3(ENG):c.1852+25G>A	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2790195	NM_001114753.3(ENG):c.1852+23G>A	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 2901582	NM_001114753.3(ENG):c.1852+21C>T	ENG (Q625*)	Single nucleotide variant (nonsense +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
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 2767511	NM_001114753.3(ENG):c.1852+20A>G	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 1125948	NM_001114753.3(ENG):c.1852+11C>T	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2051471	NM_001114753.3(ENG):c.1852+3G>A	ENG (E619K)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1477415	NM_001114753.3(ENG):c.1852+1G>C	ENG (R618P)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2999407	NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)	ENG (R436G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1381531	NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys)	ENG (R618C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1098933	NM_001114753.3(ENG):c.1851G>A (p.Thr617=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
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 1592247	NM_001114753.3(ENG):c.1845G>C (p.Ser615=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 237025	NM_001114753.3(ENG):c.1845G>T (p.Ser615=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 528060	NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp)	ENG (S615W +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely 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 benignFDA Recognized database
Select item 1157109	NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2152060	NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)	ENG (A427V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1125722	NM_001114753.3(ENG):c.1815G>A (p.Leu605=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 949981	NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)	ENG (T414A +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1486607	NM_001114753.3(ENG):c.1782C>T (p.Gly594=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
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 2717902	NM_001114753.3(ENG):c.1779G>A (p.Leu593=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1001852	NM_001114753.3(ENG):c.1774G>A (p.Val592Met)	ENG (V410M +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2965041	NM_001114753.3(ENG):c.1773C>T (p.Ala591=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 1042062	NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)	ENG (A409T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GBenign/Likely benign
Select item 528075	NM_001114753.3(ENG):c.1770C>T (p.Pro590=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
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 706344	NM_001114753.3(ENG):c.1761C>T (p.Leu587=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GBenign/Likely benign
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 810424	NM_001114753.3(ENG):c.1758C>T (p.Gly586=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3018891	NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)	ENG (T401I +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2753247	NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)	ENG (T401R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1013753	NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)	ENG (C400G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1621984	NM_001114753.3(ENG):c.1742-8C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1096601	NM_001114753.3(ENG):c.1742-9C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1085437	NM_001114753.3(ENG):c.1742-10C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1589235	NM_001114753.3(ENG):c.1742-13C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 504728	NM_001114753.3(ENG):c.1742-15G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2162710	NM_001114753.3(ENG):c.1742-16C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 1913958	NM_001114753.3(ENG):c.1742-19T>C	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1161320	NM_001114753.3(ENG):c.1741+79G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 458342	NM_001114753.3(ENG):c.1741+10C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2092377	NM_001114753.3(ENG):c.1741+8C>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2754789	NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)	ENG, LOC102723566 (S398T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
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 2716244	NM_001114753.3(ENG):c.1734C>T (p.Asp578=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 1505328	NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg)	ENG, LOC102723566 (S576R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 582079	NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly)	ENG, LOC102723566 (S576G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 577833	NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del)	ENG, LOC102723566 (I575del +1 more)	Microsatellite (inframe_deletion +2 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 842851	NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)	ENG, LOC102723566 (I393M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1014540	NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)	ENG, LOC102723566 (I393T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2750770	NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)	ENG, LOC102723566 (I574V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
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)	Cardiovascular phenotype +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 3011098	NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)	ENG, LOC102723566 (R389G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2153734	NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)	ENG, LOC102723566 (R571S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
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 934227	NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)	ENG, LOC102723566 (M388I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 3020149	NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)	ENG, LOC102723566 (M570T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1630151	NM_001114753.3(ENG):c.1704C>T (p.Val568=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
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 458341	NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala)	ENG, LOC102723566 (T567A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 935180	NM_001114753.3(ENG):c.1698del (p.Thr567fs)	ENG, LOC102723566 (T385fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 528085	NM_001114753.3(ENG):c.1698G>A (p.Arg566=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1351638	NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly)	ENG, LOC102723566 (R384G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2912275	NM_001114753.3(ENG):c.1695T>G (p.His565Gln)	ENG, LOC102723566 (H565Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1054030	NM_001114753.3(ENG):c.1695T>A (p.His565Gln)	ENG, LOC102723566 (H383Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 957572	NM_001114753.3(ENG):c.1695del (p.His565fs)	ENG, LOC102723566 (H383fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	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 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	ENG, LOC102723566	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)	Hereditary hemorrhagic telangiectasia +3 more	GPathogenic/Likely pathogenic
Select item 498114	NM_001114753.3(ENG):c.1687-1G>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 1074831	NM_001114753.3(ENG):c.1687-2A>G	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 255143	NM_001114753.3(ENG):c.1687-7C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 2889993	NM_001114753.3(ENG):c.1687-19CT[3]	ENG, LOC102723566	Microsatellite (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 2749276	NM_001114753.3(ENG):c.1687-15C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1558737	NM_001114753.3(ENG):c.1686+19G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 1460088	NM_001114753.3(ENG):c.1686+18C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2919503	NM_001114753.3(ENG):c.1686+15G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1548834	NM_001114753.3(ENG):c.1686+9G>C	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 1104922	NM_001114753.3(ENG):c.1686+8G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 528079	NM_001114753.3(ENG):c.1686+8G>C	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 958718	NM_001114753.3(ENG):c.1686+5G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439649	NM_001114753.3(ENG):c.1686+1G>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	not specified +3 more	GPathogenic
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 2711894	NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)	ENG, LOC102723566 (Q380P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 651394	NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)	LOC102723566, ENG (Q380* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 458340	NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs)	ENG, LOC102723566 (G376fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 1434674	NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly)	ENG, LOC102723566 (D561G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance

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