"Revvity Omics, Revvity"[submitter] AND "COL11A2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300806	NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)	COL11A2 (T1589M +2 more)	Single nucleotide variant (missense variant)	COL11A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 804699	NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)	COL11A2 (G1526D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2440202	NM_080680.3(COL11A2):c.4816A>G (p.Thr1606Ala)	COL11A2 (T1499A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198337	NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)	COL11A2 (R1551Q +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 2440201	NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)	COL11A2 (P1282L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 197985	NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg)	COL11A2 (G1334R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440200	NM_080680.3(COL11A2):c.3485G>A (p.Gly1162Asp)	COL11A2 (G1055D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218502	NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)	COL11A2 (P1008T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434809	NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)	COL11A2 (P1058L +2 more)	Single nucleotide variant (missense variant)	COL11A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2439215	NM_080680.3(COL11A2):c.2843dup (p.Pro950fs)	COL11A2 (P843fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1322104	NM_080680.3(COL11A2):c.2540del (p.Gly847fs)	COL11A2 (G740fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 498657	NM_080680.3(COL11A2):c.2099G>C (p.Gly700Ala)	COL11A2 (G700A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290911	NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)	COL11A2 (G587fs +2 more)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2074115	NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)	COL11A2 (R536* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2146979	NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)	COL11A2 (A481V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392847	NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu)	COL11A2 (A476E +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1597965	NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)	COL11A2 (G353W +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1447541	NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter)	COL11A2 (R272* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1934396	NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)	COL11A2	Duplication (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1254592	NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)	COL11A2 (E334D)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Ear malformation +8 more	GConflicting classifications of pathogenicity
Select item 1254070	NM_080680.3(COL11A2):c.606+3A>G	COL11A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1322103	NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter)	COL11A2 (R110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 24