"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL3A1"[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 628748	NM_000090.4(COL3A1):c.86_88del (p.Glu29del)	COL3A1 (E29del)	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 199691	NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)	COL3A1 (D41Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1172270	NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)	COL3A1 (I66L)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 199708	NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)	COL3A1 (D68G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1512542	NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)	COL3A1 (D69N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 263835	NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)	COL3A1 (P89L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 529314	NM_000090.4(COL3A1):c.290G>A (p.Arg97His)	COL3A1 (R97H)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 927080	NM_000090.4(COL3A1):c.784A>G (p.Met262Val)	COL3A1 (M262V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 922684	NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)	COL3A1 (M262T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 161215	NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	COL3A1 (R271Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 646622	NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)	COL3A1 (A280T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 199714	NM_000090.4(COL3A1):c.842C>A (p.Pro281His)	COL3A1 (P281H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 700955	NM_000090.4(COL3A1):c.853-7T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 925744	NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)	COL3A1 (R308Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 928044	NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)	COL3A1 (R310Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 101388	NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 920741	NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)	COL3A1 (G348A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 101456	NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)	COL3A1	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 199718	NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)	COL3A1 (N389Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 927140	NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val)	COL3A1 (I403V)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 1023621	NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln)	COL3A1 (R413Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 619225	NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	COL3A1 (R428*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
Select item 1434081	NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)	COL3A1 (P445S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 199695	NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)	COL3A1 (A475V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 918350	NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)	COL3A1 (A482P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 459764	NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr)	COL3A1 (I499T)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 519599	NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)	COL3A1 (V529I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 449606	NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala)	COL3A1 (V529A)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 571343	NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser)	COL3A1 (G532S)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 404308	NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)	COL3A1 (P565H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 573680	NM_000090.4(COL3A1):c.1761+6T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 242648	NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)	COL3A1 (R596*)	Single nucleotide variant (nonsense)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GPathogenic
Select item 35963	NM_000090.4(COL3A1):c.1816-19T>C	COL3A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 404301	NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)	COL3A1 (P607L)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 641803	NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)	COL3A1 (K629E)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 944354	NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)	COL3A1 (T632K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 654403	NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)	COL3A1 (T632I)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1029639	NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu)	COL3A1 (P635L)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 199725	NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)	COL3A1 (Q641E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 101342	NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)	COL3A1	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 459772	NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)	COL3A1 (E658K)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +4 more	GUncertain significance
Select item 424460	NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)	COL3A1 (P659T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 640050	NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)	COL3A1 (G666S)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GLikely pathogenic
Select item 35964	NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)	COL3A1 (A679T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 1171966	NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)	COL3A1 (A691V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 17205	NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	COL3A1 (A698T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 208865	NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys)	COL3A1 (E704K)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 101455	NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)	COL3A1	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GPathogenic
Select item 199701	NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)	COL3A1 (K833R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 925480	NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)	COL3A1 (G847V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1483582	NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)	COL3A1 (G855C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 199733	NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)	COL3A1 (N889Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 843197	NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)	COL3A1 (P893L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 519595	NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)	COL3A1 (D925N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 263987	NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)	COL3A1 (S934L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 1314409	NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)	COL3A1 (A937T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 263828	NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)	COL3A1 (V976A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 459781	NM_000090.4(COL3A1):c.2963T>A (p.Leu988His)	COL3A1 (L988H)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1172341	NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)	COL3A1 (R992S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 529320	NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser)	COL3A1 (A1070S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dominant type 4 +3 more	GUncertain significance
Select item 967327	NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu)	COL3A1 (P1087L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 960219	NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)	COL3A1 (R1091S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 199742	NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)	COL3A1 (R1109G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 180296	NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)	COL3A1 (R1109Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 1355443	NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser)	COL3A1 (A1124S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 860757	NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)	COL3A1 (R1166Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +4 more	GUncertain significance
Select item 521182	NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser)	COL3A1 (P1178S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 529322	NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu)	COL3A1 (P1189L)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 918217	NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)	COL3A1 (R1255L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 919981	NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser)	COL3A1 (F1267S)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 199744	NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)	COL3A1 (K1273R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 283149	NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)	COL3A1 (R1312Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 263935	NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)	COL3A1 (K1313Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 925218	NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)	COL3A1 (N1342S)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 962640	NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)	COL3A1 (D1348G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 199747	NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)	COL3A1 (R1358*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +3 more	GPathogenic
Select item 404289	NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)	COL3A1 (R1432L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 404293	NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr)	COL3A1 (I1449T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 429381	NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)	COL3A1 (D1453N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 333082	NM_000090.4(COL3A1):c.*406A>G	COL3A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 333083	NM_000090.4(COL3A1):c.*467T>A	COL3A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance

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Items: 81