"Genome-Nilou Lab"[submitter] AND "COL11A2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 674799	NM_080680.3(COL11A2):c.4339-49G>T	COL11A2	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GBenign
Select item 674781	NM_080680.3(COL11A2):c.3853-39G>A	COL11A2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GBenign
Select item 226535	NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 46566	NM_080680.3(COL11A2):c.3313-11C>T	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +7 more	GBenign
Select item 46565	NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 46564	NM_080680.3(COL11A2):c.3150+15A>C	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +7 more	GBenign
Select item 46562	NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +7 more	GBenign
Select item 262310	NM_080680.3(COL11A2):c.2682+26A>C	COL11A2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 46560	NM_080680.3(COL11A2):c.2628+3G>A	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +7 more	GBenign
Select item 262309	NM_080680.3(COL11A2):c.2484+22C>G	COL11A2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 46558	NM_080680.3(COL11A2):c.2136A>T (p.Gly712=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +7 more	GBenign
Select item 46555	NM_080680.3(COL11A2):c.1360-7A>C	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +7 more	GBenign
Select item 46570	NM_080680.3(COL11A2):c.877-4T>A	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +8 more	GBenign
Select item 675092	NM_080680.3(COL11A2):c.877-34C>T	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 46569	NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)	COL11A2 (E276K)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GBenign