"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178320	NM_080680.3(COL11A2):c.*4C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 46568	NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	COL11A2 (P1722L +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 226539	NM_080680.3(COL11A2):c.5071-5T>G	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 498728	NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 178663	NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)	COL11A2 (E1628D +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 1203248	NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 178604	NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)	COL11A2 (R1600Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +8 more	GBenign/Likely benign
Select item 227272	NM_080680.3(COL11A2):c.4751-9A>G	COL11A2	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 162977	NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)	COL11A2	Single nucleotide variant (synonymous 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 178323	NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly)	COL11A2 (D1287G +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GBenign/Likely benign
Select item 197930	NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 356391	NM_080680.3(COL11A2):c.3583-5T>C	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +6 more	GBenign/Likely benign
Select item 178326	NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 1702466	NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197474	NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +6 more	GBenign/Likely benign
Select item 226534	NM_080680.3(COL11A2):c.2757C>T (p.Gly919=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 1702454	NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met)	COL11A2 (R769M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 46559	NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 195909	NM_080680.3(COL11A2):c.2017-5T>G	COL11A2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46557	NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 1702446	NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser)	COL11A2 (P417S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1597965	NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)	COL11A2 (G353W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +2 more	GConflicting classifications of pathogenicity
Select item 198609	NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)	COL11A2 (G297S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
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 225318	NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)	COL11A2 (G230W)	Single nucleotide variant (missense variant)	Connective tissue disorder +8 more	GConflicting classifications of pathogenicity
Select item 162997	NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)	COL11A2 (R118P)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 226533	NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)	COL11A2 (P77Q)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28