Related gene-specific medical variations for Gene (Select 1302) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064507	NM_080680.3(COL11A2):c.1471C>T (p.Pro491Ser)	COL11A2 (P149S +5 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant	GUncertain significance
Select item 2582730	NM_080680.3(COL11A2):c.484A>T (p.Thr162Ser)	COL11A2 (T162S)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2	GUncertain significance
Select item 2580935	NM_080680.3(COL11A2):c.4280A>G (p.Glu1427Gly)	COL11A2 (E1085G +6 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant	GUncertain significance
Select item 2440202	NM_080680.3(COL11A2):c.4816A>G (p.Thr1606Ala)	COL11A2 (T1499A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440200	NM_080680.3(COL11A2):c.3485G>A (p.Gly1162Asp)	COL11A2 (G1055D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439215	NM_080680.3(COL11A2):c.2843dup (p.Pro950fs)	COL11A2 (P843fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1322104	NM_080680.3(COL11A2):c.2540del (p.Gly847fs)	COL11A2 (G740fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1322103	NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter)	COL11A2 (R110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1252015	NM_080680.3(COL11A2):c.1871dup (p.Gly625fs)	COL11A2 (G518fs +2 more)	Duplication (frameshift variant)	Fibrochondrogenesis 2	GPathogenic
Select item 1224337	NM_080680.3(COL11A2):c.4831A>T (p.Thr1611Ser)	COL11A2 (T1504S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866042	NM_080680.3(COL11A2):c.3075del (p.Gly1027fs)	COL11A2 (G1027fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 812160	NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)	COL11A2 (P603S +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 811075	NM_080680.3(COL11A2):c.2928G>C (p.Gly976=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 810044	GRCh37/hg19 6p21.32(chr6:33131455-33139880)x3	COL11A2	Copy number gain	not provided	GUncertain significance
Select item 377372	NM_080680.3(COL11A2):c.2295G>T (p.Arg765Ser)	COL11A2 (R765S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance