Related gene-specific medical variations for Gene (Select 64131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333599	NM_022166.4(XYLT1):c.533A>T (p.Gln178Leu)	LOC130058566, XYLT1 (Q178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243529	NC_000016.9:g.(?_17292049)_(17451927_?)del	XYLT1	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 3237504	NM_022166.4(XYLT1):c.578del (p.Leu192_Leu193insTer)	LOC130058566, XYLT1	Deletion (nonsense)	Desbuquois dysplasia 2	GLikely pathogenic
Select item 3191370	NM_022166.4(XYLT1):c.799G>T (p.Ala267Ser)	LOC130058565, XYLT1 (A267S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063431	GRCh37/hg19 16p12.3(chr16:16855348-18172468)x1	XYLT1	Copy number loss	not specified	GUncertain significance
Select item 2918040	NM_022166.4(XYLT1):c.1734C>T (p.Asp578=)	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2901641	NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2892350	NM_022166.4(XYLT1):c.537T>C (p.Pro179=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2884790	NM_022166.4(XYLT1):c.1764+9_1764+10dup	LOC102723692, XYLT1	Duplication (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2836090	NM_022166.4(XYLT1):c.1606C>T (p.Leu536=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2819463	NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)	LOC102723692, XYLT1 (R662L)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2789413	NM_022166.4(XYLT1):c.1677G>A (p.Leu559=)	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2777029	NM_022166.4(XYLT1):c.1764+13C>T	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2716664	NM_022166.4(XYLT1):c.1588-9C>T	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2683348	NM_022166.4(XYLT1):c.1906G>A (p.Asp636Asn)	LOC102723692, XYLT1 (D636N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532189	NM_022166.4(XYLT1):c.754G>A (p.Asp252Asn)	LOC130058565, XYLT1 (D252N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529330	NM_022166.4(XYLT1):c.1984C>T (p.Arg662Trp)	LOC102723692, XYLT1 (R662W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438630	NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)	XYLT1 (M321R)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2	GUncertain significance
Select item 2412085	NM_022166.4(XYLT1):c.1992G>C (p.Glu664Asp)	LOC102723692, XYLT1 (E664D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275457	NM_022166.4(XYLT1):c.571G>A (p.Glu191Lys)	LOC130058566, XYLT1 (E191K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267318	NM_022166.4(XYLT1):c.1987G>A (p.Ala663Thr)	LOC102723692, XYLT1 (A663T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237790	NM_022166.4(XYLT1):c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp)	LOC102723692, XYLT1	Duplication (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209717	NM_022166.4(XYLT1):c.1969C>T (p.Arg657Cys)	LOC102723692, XYLT1 (R657C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202572	NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)	LOC130058566, XYLT1 (Q173E)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 2192871	NM_022166.4(XYLT1):c.1659C>T (p.Thr553=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2166418	NM_022166.4(XYLT1):c.403-18C>T	LOC130058566, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2155581	NM_022166.4(XYLT1):c.1588-15C>G	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 2144637	NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)	LOC102723692, XYLT1 (T534M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2141573	NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)	LOC102723692, XYLT1 (R551H)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 2114833	NM_022166.4(XYLT1):c.1765-14T>A	LOC102723692, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2106529	NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)	LOC130058566, XYLT1 (R141Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2074185	NM_022166.4(XYLT1):c.570G>A (p.Lys190=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2066453	NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)	LOC130058566, XYLT1 (T172I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 2061485	NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)	LOC102723692, XYLT1 (G618R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2050929	NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)	LOC130058566, XYLT1 (Q189R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042163	NM_022166.4(XYLT1):c.1765-15A>C	LOC102723692, XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GLikely benign
Select item 2041798	NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)	LOC102723692, XYLT1 (R628H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2012713	NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)	LOC130058566, XYLT1 (P185A)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 2006985	NM_022166.4(XYLT1):c.1765-8G>A	XYLT1, LOC102723692	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1987513	NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)	LOC102723692, XYLT1 (H541Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1979309	NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)	LOC102723692, XYLT1 (R598H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1944105	NM_022166.4(XYLT1):c.504C>T (p.Phe168=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1911724	NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)	LOC102723692, XYLT1 (L651W)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1896272	NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)	XYLT1, LOC130058566 (S187N)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1807912	GRCh37/hg19 16p12.3(chr16:16955593-17467141)x3	XYLT1	Copy number gain	not provided	GUncertain significance
Select item 1706931	NM_022166.4(XYLT1):c.1588-93A>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1683950	NM_022166.4(XYLT1):c.1588-58C>A	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1649609	NM_022166.4(XYLT1):c.1764+19C>T	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1632050	NM_022166.4(XYLT1):c.1590C>T (p.Ser530=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1603100	NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys)	LOC102723692, XYLT1 (Y614C)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1597163	NM_022166.4(XYLT1):c.541T>C (p.Leu181=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1585996	NM_022166.4(XYLT1):c.1588-35_1588-19del	LOC102723692, XYLT1	Deletion (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1583472	NM_022166.4(XYLT1):c.1764+11C>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1581114	NM_022166.4(XYLT1):c.1917C>T (p.Asp639=)	XYLT1, LOC102723692	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1577454	NM_022166.4(XYLT1):c.1848G>C (p.Leu616=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 1564241	NM_022166.4(XYLT1):c.1995G>A (p.Thr665=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1528847	NM_022166.4(XYLT1):c.546G>A (p.Ala182=)	LOC130058566, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1519703	NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser)	XYLT1, LOC130058566 (P170S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1491450	NM_022166.4(XYLT1):c.1588-9C>A	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1470773	NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys)	LOC102723692, XYLT1 (R557C)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 1461695	NM_022166.4(XYLT1):c.558G>A (p.Pro186=)	XYLT1, LOC130058566	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1428576	NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr)	LOC102723692, XYLT1 (I609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1418095	NM_022166.4(XYLT1):c.764C>T (p.Pro255Leu)	LOC130058565, XYLT1 (P255L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1415868	NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn)	LOC102723692, XYLT1 (D543N)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1407697	NM_022166.4(XYLT1):c.1764+4A>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1397336	NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg)	LOC102723692, XYLT1 (Q588R)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1396286	NM_022166.4(XYLT1):c.534G>T (p.Gln178His)	LOC130058566, XYLT1 (Q178H)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1394442	NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu)	XYLT1, LOC130058566 (P142L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +1 more	GUncertain significance
Select item 1374204	NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln)	LOC102723692, XYLT1 (R662Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1374006	NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met)	LOC102723692, XYLT1 (L644M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1370001	NM_022166.4(XYLT1):c.1638G>A (p.Val546=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1358513	NM_022166.4(XYLT1):c.1807G>A (p.Val603Met)	XYLT1, LOC102723692 (V603M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1357599	NM_022166.4(XYLT1):c.793A>G (p.Ile265Val)	LOC130058565, XYLT1 (I265V)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1355317	NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser)	LOC102723692, XYLT1 (G573S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1345629	NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln)	LOC130058566, XYLT1 (R147Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1340180	GRCh37/hg19 16p12.3(chr16:16837614-17371034)x3	XYLT1	Copy number gain	not provided	GUncertain significance
Select item 1307685	NM_022166.4(XYLT1):c.1633A>G (p.Met545Val)	LOC102723692, XYLT1 (M545V)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GUncertain significance
Select item 1288230	NM_022166.4(XYLT1):c.1764+175_1764+191dup	LOC102723692, XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1282842	NM_022166.4(XYLT1):c.1765-215_1765-212dup	LOC102723692, XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1280010	NM_022166.4(XYLT1):c.1764+125_1764+128del	LOC102723692, XYLT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1249272	NM_022166.4(XYLT1):c.1764+307_1764+308insTCT	LOC102723692, XYLT1	Insertion (intron variant)	not provided	GBenign
Select item 1224360	NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys)	LOC102723692, XYLT1 (R551C)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 2 +1 more	GPathogenic
Select item 1170431	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)	LOC102723692, XYLT1 (T665M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 1168621	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1167492	NM_022166.4(XYLT1):c.1935C>T (p.Ser645=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 1166069	NM_022166.4(XYLT1):c.1854G>T (p.Gly618=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GBenign
Select item 1111558	NM_022166.4(XYLT1):c.1938C>T (p.Asp646=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1109892	NM_022166.4(XYLT1):c.1629C>T (p.Asp543=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1099682	NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=)	LOC102723692, XYLT1	Single nucleotide variant (synonymous variant)	XYLT1-related disorder +1 more	GLikely benign
Select item 1082838	NM_022166.4(XYLT1):c.1875G>A (p.Pro625=)	XYLT1, LOC102723692	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1	GLikely benign
Select item 1080942	NM_022166.4(XYLT1):c.1953G>A (p.Leu651=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GLikely benign
Select item 1057794	NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala)	LOC102723692, XYLT1 (S530A)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1056276	NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn)	XYLT1, LOC102723692 (D646N)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1036214	NM_022166.4(XYLT1):c.436G>A (p.Val146Met)	XYLT1, LOC130058566 (V146M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1035106	NM_022166.4(XYLT1):c.1939G>A (p.Val647Met)	LOC102723692, XYLT1 (V647M)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 1026953	NM_022166.4(XYLT1):c.1970G>A (p.Arg657His)	LOC102723692, XYLT1 (R657H)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 1025388	NM_022166.4(XYLT1):c.1764+3G>A	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1020300	NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser)	LOC102723692, XYLT1 (N577S)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance
Select item 999765	NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu)	XYLT1, LOC130058566 (F138L)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 959193	NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn)	LOC102723692, XYLT1 (D583N)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1	GUncertain significance

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