"3billion"[submitter] AND "COL2A1"[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705711	NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)	COL2A1	Single nucleotide variant (stop lost)	Stickler syndrome, type I, nonsyndromic ocular	GUncertain significance
Select item 17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1 (G1128S +1 more)	Single nucleotide variant (missense variant)	Namaqualand hip dysplasia +7 more	GPathogenic/Likely pathogenic
Select item 1333360	NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp)	COL2A1 (G1095D +1 more)	Single nucleotide variant (missense variant)	Platyspondylic dysplasia, Torrance type +2 more	GLikely pathogenic
Select item 286275	NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	COL2A1 (G1104E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +14 more	GPathogenic/Likely pathogenic
Select item 1068151	NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)	COL2A1 (G861S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +1 more	GLikely pathogenic
Select item 2137332	NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)	COL2A1 (G867D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1687304	NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)	COL2A1 (P721fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 547258	NM_001844.5(COL2A1):c.2381del (p.Pro794fs)	COL2A1 (P794fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1320218	NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)	COL2A1 (G654S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 17383	NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	COL2A1 (R496C +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +5 more	GPathogenic/Likely pathogenic
Select item 1687501	NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu)	COL2A1 (G411E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1526121	NM_001844.5(COL2A1):c.1068+4del	COL2A1	Deletion (intron variant)	Spondyloepiphyseal dysplasia, Stanescu type	GUncertain significance
Select item 1333272	NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser)	COL2A1 (G183S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GUncertain significance
Select item 2444385	NM_001844.5(COL2A1):c.638G>A (p.Gly213Asp)	COL2A1 (G144D +1 more)	Single nucleotide variant (missense variant)	Platyspondylic dysplasia, Torrance type	GLikely pathogenic
Select item 1705640	NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)	COL2A1 (R140Q +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +1 more	GUncertain significance
Select item 1705352	NM_001844.5(COL2A1):c.610-2A>T	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 2572519	NM_001844.5(COL2A1):c.575del (p.Gly192fs)	COL2A1 (G123fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic