C0268335[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519680	NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)	COL5A2 (M1366V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 213159	NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)	COL5A2 (H1239R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459746	NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)	COL5A2 (P1226S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 459745	NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)	COL5A2 (P1220S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 333136	NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)	COL5A2 (R1114Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 213114	NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)	COL5A2 (R1060W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 377736	NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GLikely benign
Select item 74355	NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)	COL5A2 (P961S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 213092	NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)	COL5A2 (A914V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 213107	NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)	COL5A2 (V845I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 180303	NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)	COL5A2 (P671S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 180302	NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)	COL5A2 (E565Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GUncertain significance
Select item 547287	NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)	COL5A2 (P553R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213075	NM_000393.5(COL5A2):c.1456-20T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 1369746	NM_000393.5(COL5A2):c.1005+3A>G	COL5A2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 523366	NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)	COL5A2 (G252C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GLikely pathogenic
Select item 213161	NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)	COL5A2 (R146Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 421327	NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)	COL5A2 (R130C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 653176	NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)	COL5A2 (I53N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GUncertain significance
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +8 more	GUncertain significance
Select item 423747	NM_000089.4(COL1A2):c.286A>G (p.Met96Val)	COL1A2 (M96V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 526896	NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	COL1A2 (R224H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GConflicting classifications of pathogenicity
Select item 456848	NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2 (G328S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 35932	NM_000089.4(COL1A2):c.1036-14G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +11 more	GBenign/Likely benign
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GPathogenic
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 35936	NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +12 more	GBenign/Likely benign
Select item 392356	NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)	COL1A2 (R693Q)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GUncertain significance
Select item 526887	NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	COL1A2 (R948H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +10 more	GUncertain significance
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GBenign/Likely benign
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic/Likely pathogenic
Select item 281098	NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	COL1A2 (P1016H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GConflicting classifications of pathogenicity
Select item 373178	NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)	COL1A2 (N1285H)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more	GConflicting classifications of pathogenicity
Select item 365697	NM_000093.5(COL5A1):c.-364G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 380649	NM_000093.5(COL5A1):c.12T>C (p.His4=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 212930	NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	COL5A1 (P21S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
Select item 971716	NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)	COL5A1 (R66*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic/Likely pathogenic
Select item 213008	NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)	COL5A1 (E98K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 213011	NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)	COL5A1 (Q123E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +5 more	GConflicting classifications of pathogenicity
Select item 136918	NM_000093.5(COL5A1):c.378G>T (p.Gln126His)	COL5A1 (Q126H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 1353147	NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)	COL5A1 (Y234H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1566375	NM_000093.5(COL5A1):c.786+11T>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 529245	NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)	COL5A1 (P427L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 459654	NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)	COL5A1 (G431R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 519643	NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)	COL5A1 (P435L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 136929	NM_000093.5(COL5A1):c.1333-8A>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 459656	NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)	COL5A1	Single nucleotide variant (synonymous variant)	Fibromuscular dysplasia, multifocal +3 more	GLikely benign
Select item 255051	NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 38863	NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	COL5A1 (G530S)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 212944	NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)	COL5A1 (R630W)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 212889	NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 212890	NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 392843	NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser)	COL5A1 (N725S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136867	NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 196728	NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)	COL5A1 (G899S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 377725	NM_000093.5(COL5A1):c.2800-18C>T	COL5A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1318896	NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)	COL5A1 (R948Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 212952	NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)	COL5A1 (E983K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 862264	NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)	COL5A1 (T984S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 212955	NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)	COL5A1 (T1037M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 212960	NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)	COL5A1 (A1098T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +4 more	GConflicting classifications of pathogenicity
Select item 459674	NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)	COL5A1 (R1133Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1552535	NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 136882	NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +6 more	GBenign/Likely benign
Select item 212903	NM_000093.5(COL5A1):c.3906+14C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 409122	NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 136890	NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)	COL5A1 (P1379S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 212972	NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)	COL5A1 (P1388S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 213052	NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)	COL5A1 (R1392K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GUncertain significance
Select item 212977	NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)	COL5A1 (P1436L)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 212907	NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 136898	NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +8 more	GBenign/Likely benign
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 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 1000461	NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)	COL5A1, LOC101448202 (E1599K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1194020	NM_000093.5(COL5A1):c.5136+152C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 136909	NM_000093.5(COL5A1):c.5137-12C>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136910	NM_000093.5(COL5A1):c.5137-11T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 136911	NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 263994	NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 449274	NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)	COL5A1, LOC101448202 (P1780H)	Single nucleotide variant (missense variant)	Fibromuscular dysplasia, multifocal +3 more	GConflicting classifications of pathogenicity
Select item 213035	NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)	LOC101448202, COL5A1 (D1787fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic
Select item 136915	NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)	LOC101448202, COL5A1 (D1803N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign

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Items: 85