C4225429[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459745	NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)	COL5A2 (P1220S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213092	NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)	COL5A2 (A914V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 212930	NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	COL5A1 (P21S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign/Likely benign
Select item 213008	NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)	COL5A1 (E98K)	Single nucleotide variant (missense variant)	not provided +2 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 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 +2 more	GConflicting classifications of pathogenicity
Select item 136929	NM_000093.5(COL5A1):c.1333-8A>G	COL5A1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 255051	NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +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)	Ehlers-Danlos syndrome +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 provided +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)	Ehlers-Danlos syndrome, classic type +2 more	GConflicting classifications of pathogenicity
Select item 136867	NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GBenign/Likely benign
Select item 212960	NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)	COL5A1 (A1098T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136882	NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 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 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)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 136898	NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)	COL5A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +8 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)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 492838	NM_002474.3(MYH11):c.2139G>C (p.Gln713His)	MYH11 (Q720H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 17343	NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	COL1A1 (R312C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +12 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26