ClinVar for Gene (Select 10329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315860	NM_014254.3(RXYLT1):c.863T>G (p.Ile288Ser)	RXYLT1 (I288S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315859	NM_014254.3(RXYLT1):c.457G>A (p.Gly153Arg)	RXYLT1 (G153R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252988	NM_014254.3(RXYLT1):c.1A>T (p.Met1Leu)	RXYLT1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 3244418	NC_000012.11:g.(?_64173741)_(64174974_?)del	RXYLT1	Deletion	not provided	GPathogenic
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	C12orf56, CAND1 +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3242184	NM_014254.3(RXYLT1):c.760G>A (p.Val254Met)	RXYLT1 (V254M)	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	GUncertain significance
Select item 3157323	NM_014254.3(RXYLT1):c.868A>G (p.Lys290Glu)	RXYLT1 (K30E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157322	NM_014254.3(RXYLT1):c.772A>G (p.Ser258Gly)	RXYLT1 (S258G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157321	NM_014254.3(RXYLT1):c.709G>A (p.Val237Met)	RXYLT1 (V237M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3157319	NM_014254.3(RXYLT1):c.626A>C (p.Glu209Ala)	RXYLT1 (E209A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157318	NM_014254.3(RXYLT1):c.625G>A (p.Glu209Lys)	RXYLT1 (E209K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157317	NM_014254.3(RXYLT1):c.47A>G (p.Tyr16Cys)	RXYLT1 (Y16C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157316	NM_014254.3(RXYLT1):c.290A>G (p.Asp97Gly)	RXYLT1 (D97G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157315	NM_014254.3(RXYLT1):c.133A>G (p.Lys45Glu)	RXYLT1 (K45E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157314	NM_014254.3(RXYLT1):c.128T>G (p.Leu43Arg)	RXYLT1 (L43R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3014200	NM_014254.3(RXYLT1):c.117C>T (p.Ser39=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3013340	NM_014254.3(RXYLT1):c.169+17G>A	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008590	NM_014254.3(RXYLT1):c.170-9_170-8del	RXYLT1	Deletion (intron variant)	not provided	GLikely benign
Select item 3008566	NM_014254.3(RXYLT1):c.1020A>T (p.Arg340=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006120	NM_014254.3(RXYLT1):c.896G>A (p.Trp299Ter)	RXYLT1 (W299* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3003033	NM_014254.3(RXYLT1):c.743+7A>G	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002827	NM_014254.3(RXYLT1):c.169+13C>T	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3002083	NM_014254.3(RXYLT1):c.663C>T (p.Phe221=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3000669	NM_014254.3(RXYLT1):c.169+8T>G	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3000379	NM_014254.3(RXYLT1):c.960T>C (p.Asp320=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997828	NM_014254.3(RXYLT1):c.612A>G (p.Glu204=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2991355	NM_014254.3(RXYLT1):c.564G>A (p.Val188=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990904	NM_014254.3(RXYLT1):c.491T>C (p.Leu164Pro)	RXYLT1 (L164P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990579	NM_014254.3(RXYLT1):c.301C>T (p.Gln101Ter)	RXYLT1 (Q101*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2990545	NM_014254.3(RXYLT1):c.501_511del (p.Asn167fs)	RXYLT1 (N167fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
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 2985221	NM_014254.3(RXYLT1):c.744-8T>A	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974102	NM_014254.3(RXYLT1):c.555A>G (p.Gln185=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2970369	NM_014254.3(RXYLT1):c.326-9A>C	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918730	NM_014254.3(RXYLT1):c.921G>A (p.Gln307=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917624	NM_014254.3(RXYLT1):c.552A>C (p.Ala184=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2916135	NM_014254.3(RXYLT1):c.768G>A (p.Glu256=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2912470	NM_014254.3(RXYLT1):c.66C>T (p.Tyr22=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2912230	NM_014254.3(RXYLT1):c.119dup (p.Arg41fs)	RXYLT1 (R41fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2909589	NM_014254.3(RXYLT1):c.51C>T (p.Cys17=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2904732	NM_014254.3(RXYLT1):c.81C>G (p.Val27=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2901695	NM_014254.3(RXYLT1):c.510A>G (p.Glu170=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2888204	NM_014254.3(RXYLT1):c.169+16C>A	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2886399	NM_014254.3(RXYLT1):c.408C>T (p.Ile136=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2885748	NM_014254.3(RXYLT1):c.699del (p.Pro232_Trp233insTer)	RXYLT1	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2880797	NM_014254.3(RXYLT1):c.429-16G>A	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876909	NM_014254.3(RXYLT1):c.743+18T>C	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869875	NM_014254.3(RXYLT1):c.636C>T (p.Asn212=)	RXYLT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868666	NM_014254.3(RXYLT1):c.52C>T (p.Leu18=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2866393	NM_014254.3(RXYLT1):c.169+2T>G	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2866184	NM_014254.3(RXYLT1):c.914+18T>G	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863662	NM_014254.3(RXYLT1):c.162C>G (p.Arg54=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2861516	NM_014254.3(RXYLT1):c.169+18G>C	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2860928	NM_014254.3(RXYLT1):c.326-1G>A	RXYLT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2854931	NM_014254.3(RXYLT1):c.170-15C>T	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853716	NM_014254.3(RXYLT1):c.807A>G (p.Leu269=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853169	NM_014254.3(RXYLT1):c.932del (p.Thr311fs)	RXYLT1 (T51fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2852004	NM_014254.3(RXYLT1):c.387A>G (p.Gln129=)	RXYLT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846907	NM_014254.3(RXYLT1):c.429-19G>A	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846101	NM_014254.3(RXYLT1):c.435C>T (p.Ile145=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2843288	NM_014254.3(RXYLT1):c.613_623del (p.Glu204_His205insTer)	RXYLT1	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 2841737	NM_014254.3(RXYLT1):c.170-16del	RXYLT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2841706	NM_014254.3(RXYLT1):c.169+20T>A	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2839487	NM_014254.3(RXYLT1):c.743+17A>T	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836311	NM_014254.3(RXYLT1):c.915-18del	RXYLT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2836310	NM_014254.3(RXYLT1):c.121C>A (p.Arg41=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2833922	NM_014254.3(RXYLT1):c.553C>T (p.Gln185Ter)	RXYLT1 (Q185*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2833523	NM_014254.3(RXYLT1):c.482_489del (p.Asn161fs)	RXYLT1 (N161fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2832756	NM_014254.3(RXYLT1):c.915-5dup	RXYLT1	Duplication (intron variant)	not provided	GBenign
Select item 2832051	NM_014254.3(RXYLT1):c.539G>A (p.Trp180Ter)	RXYLT1 (W180*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2829457	NM_014254.3(RXYLT1):c.744-1del	RXYLT1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2829013	NM_014254.3(RXYLT1):c.438T>C (p.Thr146=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2825094	NM_014254.3(RXYLT1):c.879G>A (p.Gly293=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823775	NM_014254.3(RXYLT1):c.159A>G (p.Arg53=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2820020	NM_014254.3(RXYLT1):c.534C>G (p.Thr178=)	RXYLT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2819771	NM_014254.3(RXYLT1):c.579C>G (p.Leu193=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2819047	NM_014254.3(RXYLT1):c.282A>C (p.Gly94=)	RXYLT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815494	NM_014254.3(RXYLT1):c.415A>C (p.Arg139=)	RXYLT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808975	NM_014254.3(RXYLT1):c.225T>C (p.Asn75=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2806984	NM_014254.3(RXYLT1):c.515_519del (p.Ala172fs)	RXYLT1 (A172fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
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 2802981	NM_014254.3(RXYLT1):c.87C>T (p.Phe29=)	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2801164	NM_014254.3(RXYLT1):c.573A>G (p.Gln191=)	RXYLT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792565	NM_014254.3(RXYLT1):c.743+8C>T	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785649	NM_014254.3(RXYLT1):c.170-19C>G	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783807	NM_014254.3(RXYLT1):c.157A>T (p.Arg53Ter)	RXYLT1 (R53*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2781094	NM_014254.3(RXYLT1):c.207G>A (p.Trp69Ter)	RXYLT1 (W69*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2780331	NM_014254.3(RXYLT1):c.169+9G>A	RXYLT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2780252	NM_014254.3(RXYLT1):c.389G>A (p.Trp130Ter)	RXYLT1 (W130*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2778258	NM_014254.3(RXYLT1):c.744-20A>G	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772011	NM_014254.3(RXYLT1):c.508dup (p.Glu170fs)	RXYLT1 (E170fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2770026	NM_014254.3(RXYLT1):c.1011A>G (p.Glu337=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767215	NM_014254.3(RXYLT1):c.307T>G (p.Trp103Gly)	RXYLT1 (W103G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2764804	NM_014254.3(RXYLT1):c.1017T>C (p.Tyr339=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764222	NM_014254.3(RXYLT1):c.914+8C>A	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759651	NM_014254.3(RXYLT1):c.325+17A>G	RXYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758418	NM_014254.3(RXYLT1):c.170-1G>C	RXYLT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2755016	NM_014254.3(RXYLT1):c.846A>G (p.Arg282=)	RXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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