"Laboratory of Inherited Metabolic Diseases, Research centre for medic - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326887	NM_001844.5(COL2A1):c.4317+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 1326886	NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)	COL2A1 (L1309Q +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1326889	NM_001844.5(COL2A1):c.4074+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1326885	NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg)	COL2A1 (M1248R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 1326884	NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)	COL2A1 (W1230C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1326882	NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg)	COL2A1 (G1128R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	GPathogenic/Likely pathogenic
Select item 1326881	NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu)	COL2A1 (G1116E +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic
Select item 1326880	NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg)	COL2A1 (G1086R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 984941	NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del)	COL2A1 (S1079del +1 more)	Deletion (inframe_deletion)	COL2A1-related skeletal dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1326879	NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)	COL2A1 (G1047C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326878	NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser)	COL2A1 (G822S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 284348	NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)	COL2A1 (G867V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	GPathogenic/Likely pathogenic
Select item 1326877	NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys)	COL2A1 (G630C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 873513	NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)	COL2A1 (G600S +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1326876	NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)	COL2A1 (G525R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1326875	NM_001844.5(COL2A1):c.1421_1426del (p.Gly474_Pro475del)	COL2A1	Deletion (inframe_deletion)	Kniest dysplasia	GPathogenic
Select item 1326897	NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg)	COL2A1 (G381R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic
Select item 1326896	NM_001844.5(COL2A1):c.1266+5G>C	COL2A1	Single nucleotide variant (intron variant)	Kniest dysplasia	GLikely pathogenic
Select item 1326895	NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg)	COL2A1 (G330R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1326894	NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys)	COL2A1 (G295C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 1326893	NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser)	COL2A1 (G288S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326890	NM_001844.5(COL2A1):c.1068+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 1048782	NM_001844.5(COL2A1):c.1023+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 1326892	NM_001844.5(COL2A1):c.980G>T (p.Gly327Val)	COL2A1 (G258V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326891	NM_001844.5(COL2A1):c.970-8T>G	COL2A1	Single nucleotide variant (intron variant)	Kniest dysplasia	GLikely pathogenic
Select item 1723875	NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC	COL2A1	Indel (intron variant)	Kniest dysplasia	GLikely pathogenic
Select item 1326888	NM_001844.5(COL2A1):c.817-1G>A	COL2A1	Single nucleotide variant (splice acceptor variant)	Spondyloperipheral dysplasia	GPathogenic
Select item 1326874	NM_001844.5(COL2A1):c.654+4dup	COL2A1	Duplication (intron variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1326883	NM_001844.5(COL2A1):c.620G>T (p.Gly207Val)	COL2A1 (G138V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic

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Items: 29