C0268335[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2162548	NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)	COL5A2 (P962S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 529262	NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)	COL5A2 (S451F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GUncertain significance
Select item 644457	NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	COL1A2 (G448R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GPathogenic/Likely pathogenic
Select item 579862	NM_000089.4(COL1A2):c.1404+4A>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +4 more	GUncertain significance
Select item 17250	NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	COL1A2 (R708Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1031384	NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)	COL1A2 (G775E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 916285	NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn)	COL1A2 (D939N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 209143	NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)	COL5A1 (P136S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1356121	NM_000093.5(COL5A1):c.1937_1946del	COL5A1	Deletion	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 1015770	NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)	COL5A1 (I885V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GConflicting classifications of pathogenicity
Select item 1031389	NM_000093.5(COL5A1):c.3007-14G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1031390	NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser)	COL5A1 (G1066S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1004733	NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)	COL5A1 (G1162R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GConflicting classifications of pathogenicity
Select item 1027876	NM_000093.5(COL5A1):c.5136+68_5136+73delinsT	COL5A1, LOC101448202 (K1691fs)	Indel (frameshift variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 421939	NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)	COL5A1, LOC101448202 (D1771N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1001743	NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)	COL1A1 (P925A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity