"GeneDx"[submitter] AND "LOC101448202"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 1191679	NM_000093.5(COL5A1):c.4447-349G>A	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 675611	NM_000093.5(COL5A1):c.4447-101C>T	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 255088	NM_000093.5(COL5A1):c.4447-45G>A	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 675281	NM_000093.5(COL5A1):c.4447-44C>T	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 511173	NM_000093.5(COL5A1):c.4447-19T>C	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 450922	NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser)	LOC101448202, COL5A1 (G1486S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 846084	NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)	COL5A1, LOC101448202 (G1489R)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic/Likely pathogenic
Select item 212980	NM_000093.5(COL5A1):c.4471A>T (p.Ile1491Phe)	LOC101448202, COL5A1 (I1491F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 516607	NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 212981	NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)	COL5A1, LOC101448202 (G1492S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 213053	NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu)	LOC101448202, COL5A1 (P1494L)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 136900	NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 136899	NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 504095	NM_000093.5(COL5A1):c.4494_4502dup (p.Glu1499_Gly1501dup)	COL5A1, LOC101448202	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 213054	NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)	COL5A1, LOC101448202 (P1508T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1321083	NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala)	COL5A1, LOC101448202 (S1512A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 507841	NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 1320441	NM_000093.5(COL5A1):c.4541C>A (p.Pro1514His)	COL5A1, LOC101448202 (P1514H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212982	NM_000093.5(COL5A1):c.4554+5G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1219378	NM_000093.5(COL5A1):c.4554+102C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202834	NM_000093.5(COL5A1):c.4554+105C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668812	NM_000093.5(COL5A1):c.4554+247C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683387	NM_000093.5(COL5A1):c.4554+258C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683388	NM_000093.5(COL5A1):c.4554+263G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683391	NM_000093.5(COL5A1):c.4554+307C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683393	NM_000093.5(COL5A1):c.4554+321T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669004	NM_000093.5(COL5A1):c.4555-294G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385197	NM_000093.5(COL5A1):c.4555-15T>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 136901	NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 213072	NM_000093.5(COL5A1):c.4561_4569del (p.Thr1521_Pro1523del)	COL5A1, LOC101448202	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 851542	NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)	COL5A1, LOC101448202 (P1523H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 212983	NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)	COL5A1, LOC101448202 (P1526L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380308	NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)	COL5A1, LOC101448202 (P1529H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1320460	NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala)	COL5A1, LOC101448202 (P1533A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 459697	NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)	COL5A1, LOC101448202 (P1536L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 514990	NM_000093.5(COL5A1):c.4608+7A>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 384660	NM_000093.5(COL5A1):c.4608+19C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 255089	NM_000093.5(COL5A1):c.4608+31T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1267037	NM_000093.5(COL5A1):c.4608+195G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207029	NM_000093.5(COL5A1):c.4608+232C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215531	NM_000093.5(COL5A1):c.4609-281T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289480	NM_000093.5(COL5A1):c.4609-279_4609-278insCC	COL5A1, LOC101448202	Insertion (intron variant)	not provided	GBenign
Select item 1286268	NM_000093.5(COL5A1):c.4609-279dup	COL5A1, LOC101448202	Duplication (intron variant)	not provided	GBenign
Select item 673548	NM_000093.5(COL5A1):c.4609-279_4609-278insCCC	COL5A1, LOC101448202	Insertion (intron variant)	not provided	GLikely benign
Select item 673288	NM_000093.5(COL5A1):c.4609-280del	COL5A1, LOC101448202	Deletion (intron variant)	not provided	GLikely benign
Select item 683397	NM_000093.5(COL5A1):c.4609-278G>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669607	NM_000093.5(COL5A1):c.4609-278del	COL5A1, LOC101448202	Deletion (intron variant)	not provided	GBenign
Select item 669754	NM_000093.5(COL5A1):c.4609-272C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259591	NM_000093.5(COL5A1):c.4609-269dup	COL5A1, LOC101448202	Duplication (intron variant)	not provided	GBenign
Select item 683400	NM_000093.5(COL5A1):c.4609-269G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268915	NM_000093.5(COL5A1):c.4609-134A>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673417	NM_000093.5(COL5A1):c.4609-107G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673593	NM_000093.5(COL5A1):c.4609-77G>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196189	NM_000093.5(COL5A1):c.4609-34G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514846	NM_000093.5(COL5A1):c.4609-18G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 213055	NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)	COL5A1, LOC101448202 (P1538L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1321130	NM_000093.5(COL5A1):c.4642T>A (p.Ser1548Thr)	COL5A1, LOC101448202 (S1548T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212984	NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	LOC101448202, COL5A1 (S1548L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 514850	NM_000093.5(COL5A1):c.4644+16C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1217880	NM_000093.5(COL5A1):c.4644+40G>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675734	NM_000093.5(COL5A1):c.4644+99C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675735	NM_000093.5(COL5A1):c.4644+129C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247552	NM_000093.5(COL5A1):c.4644+176G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670981	NM_000093.5(COL5A1):c.4645-112A>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670982	NM_000093.5(COL5A1):c.4645-111T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194447	NM_000093.5(COL5A1):c.4645-13T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423988	NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro)	COL5A1, LOC101448202 (T1551P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 212985	NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)	LOC101448202, COL5A1 (T1551I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212986	NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)	COL5A1, LOC101448202 (P1553L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 389823	NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 662135	NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)	COL5A1, LOC101448202 (H1559P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 451508	NM_000093.5(COL5A1):c.4678C>G (p.Pro1560Ala)	COL5A1, LOC101448202 (P1560A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136902	NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 3370577	NM_000093.5(COL5A1):c.4684C>A (p.Pro1562Thr)	COL5A1, LOC101448202 (P1562T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430502	NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)	COL5A1, LOC101448202 (E1571fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic
Select item 383314	NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1318702	NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln)	COL5A1, LOC101448202 (P1566Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212987	NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)	COL5A1, LOC101448202 (P1566L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 136903	NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 513032	NM_000093.5(COL5A1):c.4698+20C>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 676069	NM_000093.5(COL5A1):c.4698+121C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674275	NM_000093.5(COL5A1):c.4698+135C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215124	NM_000093.5(COL5A1):c.4698+136G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675736	NM_000093.5(COL5A1):c.4698+146G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205176	NM_000093.5(COL5A1):c.4698+154G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673289	NM_000093.5(COL5A1):c.4698+289C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672278	NM_000093.5(COL5A1):c.4699-219A>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279250	NM_000093.5(COL5A1):c.4699-140C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200292	NM_000093.5(COL5A1):c.4699-60C>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266420	NM_000093.5(COL5A1):c.4699-24C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513070	NM_000093.5(COL5A1):c.4699-3del	COL5A1, LOC101448202	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 136904	NM_000093.5(COL5A1):c.4699-6C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 1423700	NM_000093.5(COL5A1):c.4699-3C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 449249	NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu)	COL5A1, LOC101448202 (P1568L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 220985	NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)	COL5A1, LOC101448202 (I1573V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 492837	NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	LOC101448202, COL5A1 (T1583M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1163910	NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)	COL5A1, LOC101448202 (R1584Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212988	NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)	COL5A1, LOC101448202 (R1585W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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