ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (17):
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_080680.3(COL11A2):c.*248C>A rs886061314
NM_080680.3(COL11A2):c.*393A>G
NM_080680.3(COL11A2):c.*429G>T
NM_080680.3(COL11A2):c.*439C>A rs886061313
NM_080680.3(COL11A2):c.*485G>C
NM_080680.3(COL11A2):c.*536C>T rs886061312
NM_080680.3(COL11A2):c.*544C>G rs199956729
NM_080680.3(COL11A2):c.*788A>C
NM_080680.3(COL11A2):c.*819C>T
NM_080680.3(COL11A2):c.-21C>G rs767695417
NM_080680.3(COL11A2):c.-226C>T rs886061320
NM_080680.3(COL11A2):c.-79T>C
NM_080680.3(COL11A2):c.-92A>G rs886061319
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192
NM_080680.3(COL11A2):c.1231G>T (p.Gly411Cys)
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1697T>G (p.Leu566Arg)
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)
NM_080680.3(COL11A2):c.1819-10G>A rs3129202
NM_080680.3(COL11A2):c.1869C>G (p.Pro623=)
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln)
NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala) rs757431548
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) rs202032297
NM_080680.3(COL11A2):c.222G>A (p.Gln74=)
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys) rs376355040
NM_080680.3(COL11A2):c.2431-4C>T
NM_080680.3(COL11A2):c.2477G>C (p.Gly826Ala)
NM_080680.3(COL11A2):c.2530-4G>A
NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu)
NM_080680.3(COL11A2):c.2676A>T (p.Gly892=)
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.3(COL11A2):c.3150+7G>T
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=) rs781462105
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609
NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr) rs886061316
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)
NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His)
NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser)
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327
NM_080680.3(COL11A2):c.3907-5C>T
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460
NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu)
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313
NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu)
NM_080680.3(COL11A2):c.4231-4C>G
NM_080680.3(COL11A2):c.453T>C (p.Arg151=) rs147115504
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)
NM_080680.3(COL11A2):c.4751-12C>G
NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser)
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) rs766589324
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)
NM_080680.3(COL11A2):c.5071-7C>G rs200548977
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080680.3(COL11A2):c.622C>T (p.Leu208=)
NM_080680.3(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080680.3(COL11A2):c.799-3C>T
NM_080680.3(COL11A2):c.830C>A (p.Pro277His) rs886061318
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571
NM_080680.3(COL11A2):c.920T>A (p.Leu307His)
NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp) rs886061317

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