Related gene-specific medical variations for Gene (Select 10329) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359944	NM_014254.3(RXYLT1):c.1309T>C (p.Phe437Leu)	RXYLT1 (F177L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244418	NC_000012.11:g.(?_64173741)_(64174974_?)del	RXYLT1	Deletion	not provided	GPathogenic
Select item 3157313	NM_014254.3(RXYLT1):c.1281G>A (p.Met427Ile)	RXYLT1, RXYLT1-AS1 (M427I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048504	NM_014254.3(RXYLT1):c.-4T>C	LOC130008195, RXYLT1	Single nucleotide variant (5 prime UTR variant)	RXYLT1-related disorder	GLikely benign
Select item 2986224	NM_014254.3(RXYLT1):c.1296T>C (p.Ile432=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806506	NM_014254.3(RXYLT1):c.1146C>G (p.Pro382=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2750920	NM_014254.3(RXYLT1):c.1308A>G (p.Ser436=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747395	NM_014254.3(RXYLT1):c.1278A>G (p.Lys426=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715871	NM_014254.3(RXYLT1):c.1296T>A (p.Ile432=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018475	NM_014254.3(RXYLT1):c.1291A>G (p.Asn431Asp)	RXYLT1, RXYLT1-AS1 (N171D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993597	NM_014254.3(RXYLT1):c.1139G>C (p.Gly380Ala)	RXYLT1, RXYLT1-AS1 (G380A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979457	NM_014254.3(RXYLT1):c.1299del (p.Glu434fs)	RXYLT1, RXYLT1-AS1 (E434fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1979456	NM_014254.3(RXYLT1):c.1293T>A (p.Asn431Lys)	RXYLT1, RXYLT1-AS1 (N431K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933114	NM_014254.3(RXYLT1):c.1289C>T (p.Thr430Ile)	RXYLT1, RXYLT1-AS1 (T170I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702615	NM_014254.3(RXYLT1):c.1238T>C (p.Met413Thr)	RXYLT1, RXYLT1-AS1 (M153T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624808	NM_014254.3(RXYLT1):c.1128C>G (p.Leu376=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1510371	NM_014254.3(RXYLT1):c.1114C>G (p.Pro372Ala)	RXYLT1, RXYLT1-AS1 (P372A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1503812	NM_014254.3(RXYLT1):c.1141G>T (p.Ala381Ser)	RXYLT1, RXYLT1-AS1 (A121S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1500073	NM_014254.3(RXYLT1):c.1216G>A (p.Glu406Lys)	RXYLT1, RXYLT1-AS1 (E146K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491595	NM_014254.3(RXYLT1):c.1108G>A (p.Gly370Ser)	RXYLT1, RXYLT1-AS1 (G110S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1475084	NM_014254.3(RXYLT1):c.1260C>A (p.His420Gln)	RXYLT1-AS1, RXYLT1 (H420Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471368	NM_014254.3(RXYLT1):c.1251G>A (p.Trp417Ter)	RXYLT1, RXYLT1-AS1 (W157* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1465255	NM_014254.3(RXYLT1):c.1332_*3del (p.Ter444TyrextTer?)	RXYLT1, RXYLT1-AS1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1447345	NM_014254.3(RXYLT1):c.1328_1331del (p.Ser443fs)	RXYLT1, RXYLT1-AS1 (S183fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1447208	NM_014254.3(RXYLT1):c.1270G>C (p.Glu424Gln)	RXYLT1, RXYLT1-AS1 (E164Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1412398	NM_014254.3(RXYLT1):c.1121A>C (p.Gln374Pro)	RXYLT1, RXYLT1-AS1 (Q114P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408663	NM_014254.3(RXYLT1):c.1130A>G (p.Lys377Arg)	RXYLT1, RXYLT1-AS1 (K117R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385512	NM_014254.3(RXYLT1):c.1323T>A (p.Asn441Lys)	RXYLT1, RXYLT1-AS1 (N441K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380924	NM_014254.3(RXYLT1):c.1105C>G (p.His369Asp)	RXYLT1, RXYLT1-AS1 (H109D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1221076	NM_014254.3(RXYLT1):c.*102C>A	RXYLT1, RXYLT1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1215361	NM_014254.3(RXYLT1):c.*207C>A	RXYLT1, RXYLT1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1132950	NM_014254.3(RXYLT1):c.1128C>T (p.Leu376=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1090744	NM_014254.3(RXYLT1):c.1188A>G (p.Leu396=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1060535	NM_014254.3(RXYLT1):c.1178C>G (p.Pro393Arg)	RXYLT1, RXYLT1-AS1 (P133R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045468	NM_014254.3(RXYLT1):c.1133C>A (p.Ser378Tyr)	RXYLT1, RXYLT1-AS1 (S118Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1022295	NM_014254.3(RXYLT1):c.1322A>G (p.Asn441Ser)	RXYLT1, RXYLT1-AS1 (N181S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019888	NM_014254.3(RXYLT1):c.1180G>A (p.Ala394Thr)	RXYLT1, RXYLT1-AS1 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 995035	NM_014254.3(RXYLT1):c.77A>G (p.His26Arg)	RXYLT1 (H26R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 943216	NM_014254.3(RXYLT1):c.1158C>G (p.Ile386Met)	RXYLT1, RXYLT1-AS1 (I126M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 841255	NM_014254.3(RXYLT1):c.1202C>T (p.Thr401Ile)	RXYLT1, RXYLT1-AS1 (T401I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789930	NM_014254.3(RXYLT1):c.1107C>T (p.His369=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 705788	NM_014254.3(RXYLT1):c.1218A>G (p.Glu406=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 643486	NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (stop lost)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 +1 more	GUncertain significance
Select item 571027	NM_014254.3(RXYLT1):c.1105del (p.His369fs)	RXYLT1-AS1, RXYLT1 (H109fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 569110	NM_014254.3(RXYLT1):c.1103A>C (p.His368Pro)	RXYLT1-AS1, RXYLT1 (H368P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 565680	NM_014254.3(RXYLT1):c.1147TTTATC[1] (p.383FI[1])	RXYLT1-AS1, RXYLT1	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 540604	NM_014254.3(RXYLT1):c.1088G>A (p.Gly363Glu)	RXYLT1-AS1, RXYLT1 (G363E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516693	NM_014254.3(RXYLT1):c.-44G>A	LOC130008195, RXYLT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510056	NM_014254.3(RXYLT1):c.1170G>A (p.Lys390=)	RXYLT1, RXYLT1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 473412	NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=)	RXYLT1-AS1, RXYLT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 423360	NM_014254.3(RXYLT1):c.1091A>C (p.Asn364Thr)	RXYLT1, RXYLT1-AS1 (N364T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 260374	NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly)	RXYLT1, RXYLT1-AS1 (E409G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 260373	NM_014254.3(RXYLT1):c.19_20del	RXYLT1, RXYLT1-AS1	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 198206	NM_014254.3(RXYLT1):c.*18C>G	RXYLT1, RXYLT1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign

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Links from Gene

Items: 54