ZRANB2[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 155706	GRCh38/hg38 1p31.1(chr1:70716347-71407975)x3	LINC01788, LOC129388549 +8 more	Copy number gain	See cases	GLikely benign
Select item 2535612	NM_203350.3(ZRANB2):c.959A>T (p.His320Leu)	ZRANB2, ZRANB2-AS1 (H320L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520436	NM_203350.3(ZRANB2):c.892C>T (p.Arg298Cys)	ZRANB2, ZRANB2-AS1 (R298C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2478980	NM_203350.3(ZRANB2):c.872G>T (p.Arg291Ile)	ZRANB2, ZRANB2-AS1 (R291I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519703	NM_203350.3(ZRANB2):c.866G>A (p.Arg289His)	ZRANB2, ZRANB2-AS1 (R289H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2410679	NM_203350.3(ZRANB2):c.629A>G (p.His210Arg)	ZRANB2 (H210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199265	NM_203350.3(ZRANB2):c.620G>A (p.Arg207Gln)	ZRANB2 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525603	NM_203350.3(ZRANB2):c.608G>A (p.Arg203His)	ZRANB2 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308525	NM_203350.3(ZRANB2):c.196G>A (p.Ala66Thr)	ZRANB2 (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239582	NM_203350.3(ZRANB2):c.107G>A (p.Arg36Gln)	ZRANB2 (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814095	GRCh37/hg19 1p31.1(chr1:71419650-72398325)x1	PTGER3, NEGR1-IT1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 33