GXYLT1[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 144217	GRCh38/hg38 12q12(chr12:41782886-42950380)x1	GXYLT1, LINC02402 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2263328	NM_173601.2(GXYLT1):c.1304G>C (p.Arg435Thr)	GXYLT1 (R435T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103348	NM_173601.2(GXYLT1):c.1294C>A (p.Arg432Ser)	GXYLT1 (R401S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357971	NM_173601.2(GXYLT1):c.1280A>G (p.Lys427Arg)	GXYLT1 (K427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103347	NM_173601.2(GXYLT1):c.1166C>G (p.Ser389Cys)	GXYLT1 (S358C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496558	NM_173601.2(GXYLT1):c.1115A>G (p.Asp372Gly)	GXYLT1 (D372G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473604	NM_173601.2(GXYLT1):c.1063G>A (p.Ala355Thr)	GXYLT1 (A355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528256	NM_173601.2(GXYLT1):c.1060G>A (p.Glu354Lys)	GXYLT1 (E323K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642888	NM_173601.2(GXYLT1):c.1026A>T (p.Arg342=)	GXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283193	NM_173601.2(GXYLT1):c.911C>G (p.Pro304Arg)	GXYLT1 (P304R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340726	NM_173601.2(GXYLT1):c.904C>T (p.Leu302Phe)	GXYLT1 (L302F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283196	NM_173601.2(GXYLT1):c.802A>G (p.Thr268Ala)	GXYLT1 (T237A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283192	NM_173601.2(GXYLT1):c.656A>G (p.Asp219Gly)	GXYLT1 (D188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103351	NM_173601.2(GXYLT1):c.549T>G (p.Ser183Arg)	GXYLT1 (S183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049282	NM_173601.2(GXYLT1):c.525G>A (p.Thr175=)	GXYLT1	Single nucleotide variant (synonymous variant)	GXYLT1-related disorder	GLikely benign
Select item 3059349	NM_173601.2(GXYLT1):c.513A>G (p.Thr171=)	GXYLT1	Single nucleotide variant (synonymous variant)	GXYLT1-related disorder	GBenign
Select item 2338382	NM_173601.2(GXYLT1):c.500C>T (p.Ser167Leu)	GXYLT1 (S136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2723349	NM_173601.2(GXYLT1):c.487-10del	GXYLT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2776143	NM_173601.2(GXYLT1):c.487-13dup	GXYLT1	Duplication (intron variant)	not provided	GBenign
Select item 2642889	NM_173601.2(GXYLT1):c.483C>A (p.Gly161=)	GXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283194	NM_173601.2(GXYLT1):c.482G>T (p.Gly161Val)	GXYLT1 (G130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549636	NC_000012.12:g.42127457_42199952dup	GXYLT1, LOC129390439 +4 more	Duplication	Primary amenorrhea	GLikely benign
Select item 3283195	NM_173601.2(GXYLT1):c.305C>T (p.Ala102Val)	GXYLT1 (A102V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223377	NM_173601.2(GXYLT1):c.288G>A (p.Met96Ile)	GXYLT1 (M96I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103350	NM_173601.2(GXYLT1):c.266T>C (p.Leu89Pro)	GXYLT1 (L89P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103349	NM_173601.2(GXYLT1):c.236C>G (p.Ser79Cys)	GXYLT1 (S79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283191	NM_173601.2(GXYLT1):c.193C>T (p.Pro65Ser)	GXYLT1, LOC130007692 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642890	NM_173601.2(GXYLT1):c.180C>T (p.Ala60=)	GXYLT1, LOC130007692	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551067	NM_173601.2(GXYLT1):c.178G>T (p.Ala60Ser)	GXYLT1, LOC130007692 (A60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642891	NM_173601.2(GXYLT1):c.168C>A (p.Ala56=)	GXYLT1, LOC130007692	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642892	NM_173601.2(GXYLT1):c.165C>T (p.Gly55=)	GXYLT1, LOC130007692	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642893	NM_173601.2(GXYLT1):c.156C>A (p.Gly52=)	GXYLT1, LOC130007692	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642894	NM_173601.2(GXYLT1):c.129C>T (p.Ala43=)	GXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267922	NM_173601.2(GXYLT1):c.116G>A (p.Gly39Glu)	GXYLT1 (G39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547464	NM_173601.2(GXYLT1):c.110G>A (p.Gly37Asp)	GXYLT1 (G37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411208	NM_173601.2(GXYLT1):c.94G>A (p.Glu32Lys)	GXYLT1 (E32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642895	NM_173601.2(GXYLT1):c.93A>G (p.Glu31=)	GXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642896	NM_173601.2(GXYLT1):c.78C>G (p.Leu26=)	GXYLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642897	NM_173601.2(GXYLT1):c.66T>C (p.Ala22=)	GXYLT1, LOC130007693	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642898	NM_173601.2(GXYLT1):c.63C>T (p.Tyr21=)	GXYLT1, LOC130007693	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642899	NM_173601.2(GXYLT1):c.54G>C (p.Ser18=)	GXYLT1, LOC130007693	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642900	NM_173601.2(GXYLT1):c.21C>G (p.Val7=)	GXYLT1, LOC130007693	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2684671	GRCh37/hg19 12q12(chr12:42479450-42890970)x3	GXYLT1, PPHLN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979961	GRCh37/hg19 12q12(chr12:40678619-43945453)x4	PRICKLE1, GXYLT1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 56