C0265235[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258470	NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 17137	NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)	COL11A1 (S1535P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 258466	NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258461	NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)	COL11A1 (P1323L +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 516177	NM_001854.4(COL11A1):c.3817-13dup	COL11A1	Duplication (intron variant)	not provided +5 more	GBenign
Select item 258458	NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258456	NM_001854.4(COL11A1):c.3168+41T>C	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258454	NM_001854.4(COL11A1):c.3025-23A>T	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258449	NM_001854.4(COL11A1):c.2656-28T>C	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258445	NM_001854.4(COL11A1):c.2611-19A>C	COL11A1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 258443	NM_001854.4(COL11A1):c.2295+37A>T	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 258440	NM_001854.4(COL11A1):c.1998+4T>A	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 93966	NM_001854.4(COL11A1):c.1792-39ATG[9]	COL11A1	Microsatellite (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 218828	NM_001854.4(COL11A1):c.652-6del	COL11A1	Deletion (intron variant)	Connective tissue disorder +6 more	GBenign
Select item 258452	NM_001854.4(COL11A1):c.275-7T>C	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 258450	NM_001854.4(COL11A1):c.274+42G>C	COL11A1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign