C0268338[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17228	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 969848	NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)	COL3A1 (P185A)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 529315	NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	COL3A1 (G318D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic/Likely pathogenic
Select item 1031385	NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg)	COL3A1 (Q380R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 573680	NM_000090.4(COL3A1):c.1761+6T>C	COL3A1	Single nucleotide variant (intron variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1029639	NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu)	COL3A1 (P635L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 199701	NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)	COL3A1 (K833R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1029640	NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro)	COL3A1 (L988P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 689752	NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)	COL3A1 (G1053D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic/Likely pathogenic
Select item 2671944	NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)	COL3A1 (P1163L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 101382	NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	COL3A1 (R1166*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 199753	NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	COL3A1 (R1363*)	Single nucleotide variant (nonsense)	Familial aortopathy +2 more	GPathogenic/Likely pathogenic
Select item 920015	NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)	COL3A1 (V1386I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 101276	NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity