LOC102723566[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 489

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	AK1, BBLN +130 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 982458	NC_000009.12:g.127814980_127830815del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982457	NC_000009.12:g.127814982_127820052del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 417397	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 437433	Single allele	LOC102723566, ENG	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 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 (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 426045	NM_001114753.3(ENG):c.1742-22T>C	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	GPathogenic
Select item 1679485	NM_001114753.3(ENG):c.1742-28C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 672484	NM_001114753.3(ENG):c.1742-72T>C	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205208	NM_001114753.3(ENG):c.1742-135G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1292016	NM_001114753.3(ENG):c.1742-293C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1291387	NM_001114753.3(ENG):c.1741+228G>C	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 812850	NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu)	ENG, LOC102723566 (D396E +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812851	NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn)	ENG, LOC102723566	Deletion (non-coding transcript variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic
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)	Hereditary hemorrhagic telangiectasia +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 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 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 524087	NM_001114753.3(ENG):c.1719dup (p.Ile574fs)	ENG, LOC102723566 (I392fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
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)	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)	Hereditary hemorrhagic telangiectasia	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)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 618625	NM_001114753.3(ENG):c.1701del (p.Val568fs)	ENG, LOC102723566 (V386fs +1 more)	Deletion (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenicFDA Recognized database
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)	Hereditary hemorrhagic telangiectasia +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)	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	ENG, LOC102723566	Deletion (splice acceptor variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3341415	NM_001114753.3(ENG):c.1687-1G>C	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
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 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 388615	NM_001114753.3(ENG):c.1687-17C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
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 439656	NM_001114753.3(ENG):c.1687-117G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GBenign
Select item 1217789	NM_001114753.3(ENG):c.1687-157G>C	ENG, LOC102723566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193071	NM_001114753.3(ENG):c.1686+317A>G	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1205732	NM_001114753.3(ENG):c.1686+312C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1275607	NM_001114753.3(ENG):c.1686+306A>G	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1265987	NM_001114753.3(ENG):c.1686+124G>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439664	NM_001114753.3(ENG):c.1686+76G>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	not specified	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 1777928	NM_001114753.3(ENG):c.1682_1686+15del	LOC102723566, ENG	Deletion (splice donor variant)	Cardiovascular phenotype	GPathogenic
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)	not provided +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	ENG, LOC102723566	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)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
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 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 439649	NM_001114753.3(ENG):c.1686+1G>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic

<< First< Prev

Page of 5