UBAP2L[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2214491	NM_014847.4(UBAP2L):c.29C>G (p.Ala10Gly)	UBAP2L (A10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571688	NM_014847.4(UBAP2L):c.31C>T (p.Arg11Trp)	UBAP2L (R11W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577918	NM_014847.4(UBAP2L):c.88C>T (p.Gln30Ter)	UBAP2L (Q30*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	GPathogenic
Select item 3185481	NM_014847.4(UBAP2L):c.289G>C (p.Glu97Gln)	UBAP2L (E97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214817	NM_014847.4(UBAP2L):c.350A>G (p.Asn117Ser)	UBAP2L (N117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185483	NM_014847.4(UBAP2L):c.376C>T (p.Arg126Trp)	UBAP2L (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274243	NM_014847.4(UBAP2L):c.394C>T (p.Arg132Trp)	UBAP2L (R132W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555022	NM_014847.4(UBAP2L):c.403G>C (p.Gly135Arg)	UBAP2L (G135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577919	NM_014847.4(UBAP2L):c.562G>T (p.Gly188Ter)	UBAP2L (G188* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	GPathogenic
Select item 2577920	NM_014847.4(UBAP2L):c.590+1G>A	UBAP2L	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	GPathogenic
Select item 2582081	NM_014847.4(UBAP2L):c.610T>A (p.Tyr204Asn)	UBAP2L (Y197N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2322112	NM_014847.4(UBAP2L):c.655G>A (p.Gly219Ser)	UBAP2L (G230S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185484	NM_014847.4(UBAP2L):c.788A>T (p.Asn263Ile)	UBAP2L (N274I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618319	NM_014847.4(UBAP2L):c.934C>A (p.Gln312Lys)	UBAP2L (Q312K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484952	NM_014847.4(UBAP2L):c.1007A>G (p.His336Arg)	UBAP2L (H329R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185478	NM_014847.4(UBAP2L):c.1237G>T (p.Ala413Ser)	UBAP2L (A406S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613786	NM_014847.4(UBAP2L):c.1330A>G (p.Thr444Ala)	UBAP2L (T444A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726016	NM_014847.4(UBAP2L):c.1491+10C>A	UBAP2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2546748	NM_014847.4(UBAP2L):c.1582G>A (p.Val528Ile)	UBAP2L (V521I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185479	NM_014847.4(UBAP2L):c.1618G>A (p.Ala540Thr)	UBAP2L (A533T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185480	NM_014847.4(UBAP2L):c.1644C>G (p.Ser548Arg)	UBAP2L (S559R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495921	NM_014847.4(UBAP2L):c.1699C>G (p.Gln567Glu)	UBAP2L (Q560E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430740	NM_014847.4(UBAP2L):c.1846C>T (p.Gln616Ter)	UBAP2L (Q609* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2367376	NM_014847.4(UBAP2L):c.1925C>T (p.Ala642Val)	UBAP2L (A635V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476159	NM_014847.4(UBAP2L):c.1991C>G (p.Ser664Cys)	UBAP2L (S664C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554220	NM_014847.4(UBAP2L):c.2000C>T (p.Thr667Met)	UBAP2L (T678M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727576	NM_014847.4(UBAP2L):c.2064T>C (p.Thr688=)	UBAP2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502552	NM_014847.4(UBAP2L):c.2117C>T (p.Ser706Leu)	UBAP2L (S699L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607672	NM_014847.4(UBAP2L):c.2264G>T (p.Ser755Ile)	UBAP2L (S755I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526528	NM_014847.4(UBAP2L):c.2314G>C (p.Val772Leu)	UBAP2L (V783L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378122	NM_014847.4(UBAP2L):c.2335T>C (p.Ser779Pro)	UBAP2L (S772P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499693	NM_014847.4(UBAP2L):c.2432A>G (p.His811Arg)	UBAP2L (H804R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524210	NM_014847.4(UBAP2L):c.2475G>A (p.Met825Ile)	UBAP2L (M825I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246098	NM_014847.4(UBAP2L):c.2682G>C (p.Gln894His)	UBAP2L (Q894H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726017	NM_014847.4(UBAP2L):c.2703G>A (p.Ala901=)	UBAP2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174078	NM_014847.4(UBAP2L):c.2724C>A (p.Tyr908Ter)	UBAP2L (Y901* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 767704	NM_014847.4(UBAP2L):c.2850G>A (p.Ser950=)	UBAP2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258718	NM_014847.4(UBAP2L):c.2870C>T (p.Pro957Leu)	UBAP2L (P957L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 854506	NM_014847.4(UBAP2L):c.2926_2927del (p.Thr976fs)	UBAP2L (T976fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2482777	NM_014847.4(UBAP2L):c.2929G>C (p.Gly977Arg)	UBAP2L (G988R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185482	NM_014847.4(UBAP2L):c.3080A>C (p.Tyr1027Ser)	UBAP2L (Y1026S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430934	NM_014847.4(UBAP2L):c.3168+3A>G	UBAP2L	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2621789	NM_014847.4(UBAP2L):c.3214C>T (p.Pro1072Ser)	UBAP2L (P1071S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance
Select item 687274	GRCh37/hg19 1q21.3(chr1:154213874-154331789)x3	AQP10, ATP8B2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625770	GRCh37/hg19 1q21.3(chr1:153701504-154218584)	JTB, NUP210L +13 more	Copy number loss	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 60