XYLB[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 2491584	NM_005108.4(XYLB):c.14C>T (p.Ala5Val)	XYLB (A5V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333593	NM_005108.4(XYLB):c.19C>T (p.Arg7Cys)	XYLB (R7C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354494	NM_005108.4(XYLB):c.71C>T (p.Ala24Val)	XYLB (A24V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403078	NM_005108.4(XYLB):c.151G>A (p.Gly51Ser)	XYLB (G51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401615	NM_005108.4(XYLB):c.241G>A (p.Ala81Thr)	XYLB (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191364	NM_005108.4(XYLB):c.253G>A (p.Asp85Asn)	XYLB (D85N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300673	NM_005108.4(XYLB):c.280G>A (p.Gly94Arg)	XYLB (G94R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241314	NM_005108.4(XYLB):c.283G>A (p.Ala95Thr)	XYLB (A95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400309	NM_005108.4(XYLB):c.302G>A (p.Ser101Asn)	XYLB (S101N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191365	NM_005108.4(XYLB):c.341G>A (p.Ser114Asn)	XYLB (S114N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 775857	NM_005108.4(XYLB):c.397G>A (p.Asp133Asn)	XYLB (D133N)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2279096	NM_005108.4(XYLB):c.398A>G (p.Asp133Gly)	XYLB (D133G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191366	NM_005108.4(XYLB):c.412A>T (p.Met138Leu)	XYLB (M138L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333597	NM_005108.4(XYLB):c.457G>A (p.Val153Met)	XYLB (V153M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406986	NM_005108.4(XYLB):c.546G>C (p.Gln182His)	XYLB (Q182H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191367	NM_005108.4(XYLB):c.636C>G (p.Asp212Glu)	XYLB (D212E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560019	NM_005108.4(XYLB):c.788T>C (p.Val263Ala)	XYLB (V126A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520433	NM_005108.4(XYLB):c.793C>T (p.Arg265Cys)	XYLB (R265C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306667	NM_005108.4(XYLB):c.848C>T (p.Ala283Val)	XYLB (A146V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191368	NM_005108.4(XYLB):c.851C>T (p.Ser284Leu)	XYLB (S284L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333595	NM_005108.4(XYLB):c.941C>G (p.Pro314Arg)	XYLB (P177R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622792	NM_005108.4(XYLB):c.971C>A (p.Pro324Gln)	XYLB (P187Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775858	NM_005108.4(XYLB):c.1042A>G (p.Asn348Asp)	XYLB (N211D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3333592	NM_005108.4(XYLB):c.1160T>C (p.Ile387Thr)	XYLB (I387T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623561	NM_005108.4(XYLB):c.1168C>T (p.His390Tyr)	XYLB (H253Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543540	NM_005108.4(XYLB):c.1181C>T (p.Thr394Ile)	XYLB (T257I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547168	NM_005108.4(XYLB):c.1210G>A (p.Gly404Arg)	XYLB (G267R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2332853	NM_005108.4(XYLB):c.1211G>A (p.Gly404Glu)	XYLB (G404E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333596	NM_005108.4(XYLB):c.1266C>T (p.His422=)	XYLB	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2355629	NM_005108.4(XYLB):c.1382A>G (p.Tyr461Cys)	XYLB (Y324C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329180	NM_005108.4(XYLB):c.1403C>T (p.Ser468Leu)	XYLB (S331L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465454	NM_005108.4(XYLB):c.1427G>A (p.Arg476Gln)	XYLB (R339Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522185	NM_005108.4(XYLB):c.1520C>T (p.Pro507Leu)	XYLB (P507L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2338180	NM_005108.4(XYLB):c.1570G>A (p.Glu524Lys)	XYLB (E387K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615346	NM_005108.4(XYLB):c.1595G>A (p.Arg532Gln)	XYLB (R395Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2261827	NM_005108.4(XYLB):c.1604C>T (p.Pro535Leu)	XYLB (P398L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2424455	NC_000003.11:g.(?_38180153)_(38618292_?)dup	ACVR2B, EXOG +6 more	Duplication	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1527010	GRCh37/hg19 3p22.2(chr3:38109534-38669316)	ACAA1, ACVR2B +8 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	ACVR2B, CTDSPL +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814436	GRCh37/hg19 3p22.2(chr3:38393336-38555140)x1	ACVR2B, XYLB +1 more	Copy number loss	not provided	GUncertain significance
Select item 562765	GRCh37/hg19 3p22.2(chr3:38021661-38510752)x3	CTDSPL, PLCD1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 503576	GRCh37/hg19 3p22.2(chr3:37891706-38877793)x3	VILL, XYLB +13 more	Copy number gain	See cases	GUncertain significance
Select item 463218	NC_000003.11:g.(?_37493846)_(38991873_?)del	ACAA1, ACVR2B +15 more	Deletion	Brugada syndrome	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 53