ClinVar for Gene (Select 4904) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333626	NM_004559.5(YBX1):c.673G>A (p.Gly225Ser)	YBX1 (G225S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333625	NM_004559.5(YBX1):c.741G>A (p.Arg247=)	YBX1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3247800	NC_000001.10:g.(?_42922237)_(43424429_?)dup	C1orf50, CCDC30 +9 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3191416	NM_004559.5(YBX1):c.537A>C (p.Glu179Asp)	YBX1 (E179D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191415	NM_004559.5(YBX1):c.44C>G (p.Pro15Arg)	LOC129930347, YBX1 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191414	NM_004559.5(YBX1):c.160G>A (p.Val54Ile)	LOC129930347, YBX1 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3053036	NM_004559.5(YBX1):c.680G>T (p.Gly227Val)	YBX1 (G227V)	Single nucleotide variant (missense variant +1 more)	YBX1-related disorder	GBenign
Select item 3040692	NM_004559.5(YBX1):c.147C>T (p.Gly49=)	LOC129930347, YBX1	Single nucleotide variant (synonymous variant)	YBX1-related disorder	GLikely benign
Select item 3035634	NM_004559.5(YBX1):c.507A>G (p.Glu169=)	YBX1	Single nucleotide variant (synonymous variant +1 more)	YBX1-related disorder	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2604954	NM_004559.5(YBX1):c.454A>G (p.Arg152Gly)	YBX1 (R152G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457934	NM_004559.5(YBX1):c.109G>A (p.Gly37Ser)	LOC129930347, YBX1 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307234	NM_004559.5(YBX1):c.88A>T (p.Thr30Ser)	LOC129930347, YBX1 (T30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287894	NM_004559.5(YBX1):c.967G>A (p.Ala323Thr)	YBX1 (A323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284843	NM_004559.5(YBX1):c.379G>C (p.Gly127Arg)	YBX1 (G127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280917	NM_004559.5(YBX1):c.466C>T (p.Arg156Cys)	YBX1 (R156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279152	NM_004559.5(YBX1):c.155A>G (p.Lys52Arg)	LOC129930347, YBX1 (K52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228090	NM_004559.5(YBX1):c.58C>T (p.Leu20Phe)	LOC129930347, YBX1 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30