"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL5A1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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: 50