"Center for Human Genetics, Inc, Center for Human Genetics, Inc"[submi - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178321	NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	COL11A2 (R1667H +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 547224	NM_080680.3(COL11A2):c.4750+19G>T	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GLikely benign
Select item 547223	NM_080680.3(COL11A2):c.4662C>T (p.Ile1554=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GLikely benign
Select item 162977	NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)	COL11A2	Single nucleotide variant (synonymous variant)	Fibrochondrogenesis 2 +6 more	GBenign/Likely benign
Select item 547222	NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)	COL11A2 (P1347L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561275	NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu)	COL11A2 (S1325L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 547221	NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)	COL11A2 (L1317P +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GLikely benign
Select item 178326	NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 561276	NM_080680.3(COL11A2):c.3475-19G>A	COL11A2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 510964	NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 178927	NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	COL11A2 (A974V +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 547220	NM_080680.3(COL11A2):c.2589A>C (p.Thr863=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 547219	NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)	COL11A2 (A854T +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 426242	NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)	COL11A2 (R852Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 356400	NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	COL11A2	Single nucleotide variant (synonymous variant)	Fibrochondrogenesis 2 +6 more	GConflicting classifications of pathogenicity
Select item 561277	NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)	COL11A2 (V752M +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 547218	NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 547217	NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu)	COL11A2 (S606L +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 46556	NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)	COL11A2 (R539W +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +6 more	GConflicting classifications of pathogenicity
Select item 227260	NM_080680.3(COL11A2):c.1612-10G>C	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 561278	NM_080680.3(COL11A2):c.1612-16T>A	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GLikely benign
Select item 561279	NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)	COL11A2 (P500S +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 547216	NM_080680.3(COL11A2):c.1479A>T (p.Gly493=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GLikely benign
Select item 561280	NM_080680.3(COL11A2):c.1446+19C>T	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GLikely benign
Select item 284958	NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)	COL11A2 (G461D +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 515679	NM_080680.3(COL11A2):c.1359+17del	COL11A2	Deletion (intron variant)	not provided +2 more	GLikely benign
Select item 547215	NM_080680.3(COL11A2):c.1284+8G>A	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GLikely benign
Select item 547214	NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp)	COL11A2 (G394D +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 227273	NM_080680.3(COL11A2):c.966C>A (p.Pro322=)	COL11A2	Single nucleotide variant (synonymous variant +1 more)	COL11A2-related disorder +3 more	GLikely benign
Select item 561281	NM_080680.3(COL11A2):c.813C>T (p.Leu271=)	COL11A2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +2 more	GLikely benign
Select item 388231	NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)	COL11A2 (P236S)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 547213	NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)	COL11A2 (V182I)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 547212	NM_080680.3(COL11A2):c.91C>T (p.Pro31Ser)	COL11A2 (P31S)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely benign

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Items: 33