ClinVar Miner

List of variants in gene RXYLT1 studied for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545
NM_014254.3(RXYLT1):c.1074A>C (p.Thr358=) rs148356495
NM_014254.3(RXYLT1):c.1088G>A (p.Gly363Glu) rs1003835285
NM_014254.3(RXYLT1):c.1091A>C (p.Asn364Thr) rs144060489
NM_014254.3(RXYLT1):c.1103A>C (p.His368Pro) rs1565908832
NM_014254.3(RXYLT1):c.1105del (p.His369fs) rs759632078
NM_014254.3(RXYLT1):c.113G>A (p.Gly38Glu) rs376486641
NM_014254.3(RXYLT1):c.1147_1152TTTATC[1] (p.383_384FI[1])
NM_014254.3(RXYLT1):c.1170G>A (p.Lys390=) rs145999803
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395
NM_014254.3(RXYLT1):c.123_150del (p.Leu43fs) rs748590408
NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=) rs536862073
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.146C>G (p.Pro49Arg) rs1555225874
NM_014254.3(RXYLT1):c.159A>T (p.Arg53Ser)
NM_014254.3(RXYLT1):c.163G>C (p.Gly55Arg) rs1565897565
NM_014254.3(RXYLT1):c.170-1del rs1565898123
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652
NM_014254.3(RXYLT1):c.184G>A (p.Glu62Lys) rs200250516
NM_014254.3(RXYLT1):c.246A>C (p.Lys82Asn) rs1555225967
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352
NM_014254.3(RXYLT1):c.267T>A (p.Asp89Glu)
NM_014254.3(RXYLT1):c.268A>G (p.Lys90Glu)
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.294C>T (p.Leu98=) rs114694892
NM_014254.3(RXYLT1):c.373G>C (p.Asp125His) rs188655071
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014254.3(RXYLT1):c.43C>T (p.Leu15=) rs770861350
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100
NM_014254.3(RXYLT1):c.533C>G (p.Thr178Ser)
NM_014254.3(RXYLT1):c.56T>C (p.Phe19Ser) rs375086772
NM_014254.3(RXYLT1):c.603C>T (p.Leu201=) rs146732392
NM_014254.3(RXYLT1):c.604G>A (p.Gly202Arg)
NM_014254.3(RXYLT1):c.649del (p.Arg217fs) rs948674144
NM_014254.3(RXYLT1):c.743+1G>A
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664
NM_014254.3(RXYLT1):c.84C>T (p.Phe28=) rs200123669
NM_014254.3(RXYLT1):c.914+6T>G rs748809209
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg) rs866198592
NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter) rs1555228198

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