ClinVar Miner

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

Included ClinVar conditions (15):
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Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_001844.5(COL2A1):c.1581+4_1581+7del rs1565682292
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543
NM_001851.5(COL9A1):c.1634G>A (p.Arg545His) rs145698301
NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) rs143848379
NM_001851.5(COL9A1):c.626G>A (p.Arg209Lys) rs571441243
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237
NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln)
NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu) rs1377819809
NM_001854.4(COL11A1):c.781-17T>G rs1553239331
NM_080679.2(COL11A2):c.*248C>A rs886061314
NM_080679.2(COL11A2):c.*439C>A rs886061313
NM_080679.2(COL11A2):c.*536C>T rs886061312
NM_080679.2(COL11A2):c.*544C>G rs199956729
NM_080679.2(COL11A2):c.-226C>T rs886061320
NM_080679.2(COL11A2):c.-92A>G rs886061319
NM_080679.2(COL11A2):c.1733G>C (p.Gly578Ala) rs757431548
NM_080679.2(COL11A2):c.1950C>T (p.Gly650=) rs745568808
NM_080679.2(COL11A2):c.2095C>T (p.Arg699Cys) rs376355040
NM_080679.2(COL11A2):c.2527C>T (p.Pro843Ser) rs768902062
NM_080679.2(COL11A2):c.2946G>A (p.Val982=) rs781462105
NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro) rs138045609
NM_080679.2(COL11A2):c.3049G>A (p.Ala1017Thr) rs886061316
NM_080679.2(COL11A2):c.3333A>G (p.Ser1111=) rs146962984
NM_080679.2(COL11A2):c.3529C>T (p.Arg1177Trp) rs886061315
NM_080679.2(COL11A2):c.3562G>A (p.Glu1188Lys) rs758507327
NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser) rs727504460
NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) rs142890313
NM_080679.2(COL11A2):c.4354C>T (p.Arg1452Trp) rs370966667
NM_080679.2(COL11A2):c.4533C>G (p.Asp1511Glu) rs151319255
NM_080679.2(COL11A2):c.453T>C (p.Arg151=) rs147115504
NM_080679.2(COL11A2):c.4630G>A (p.Val1544Ile) rs766589324
NM_080679.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080679.2(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080679.2(COL11A2):c.798+1585G>A rs139116571
NM_080679.2(COL11A2):c.798+1635G>C rs886061317
NM_080679.2(COL11A2):c.798+880C>A rs886061318
NM_080679.2(COL11A2):c.857C>T (p.Pro286Leu) rs140266192

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