"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46568	NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	COL11A2 (P1722L +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 178322	NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 197930	NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 356391	NM_080680.3(COL11A2):c.3583-5T>C	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 226535	NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign
Select item 46566	NM_080680.3(COL11A2):c.3313-11C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46565	NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46564	NM_080680.3(COL11A2):c.3150+15A>C	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 197474	NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 46562	NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46561	NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu)	COL11A2 (P894L +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GBenign
Select item 46560	NM_080680.3(COL11A2):c.2628+3G>A	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 227266	NM_080680.3(COL11A2):c.2584-5del	COL11A2	Deletion (intron variant)	Stickler Syndrome, Dominant +5 more	GBenign/Likely benign
Select item 46558	NM_080680.3(COL11A2):c.2136A>T (p.Gly712=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 516541	NM_080680.3(COL11A2):c.1972-16C>T	COL11A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 46557	NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 46555	NM_080680.3(COL11A2):c.1360-7A>C	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46554	NM_080680.3(COL11A2):c.1179+10G>A	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GBenign
Select item 46570	NM_080680.3(COL11A2):c.877-4T>A	COL11A2	Single nucleotide variant (intron variant)	not provided +8 more	GBenign
Select item 46569	NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)	COL11A2 (E276K)	Single nucleotide variant (missense variant +1 more)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign
Select item 906471	NM_080680.3(COL11A2):c.622C>T (p.Leu208=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 21