NUBP2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 2209432	NM_012225.4(NUBP2):c.95C>T (p.Ser32Phe)	NUBP2 (S32F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513648	NM_012225.4(NUBP2):c.98C>T (p.Thr33Met)	NUBP2 (T33M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2265653	NM_012225.4(NUBP2):c.217G>A (p.Asp73Asn)	NUBP2 (D73N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535128	NM_012225.4(NUBP2):c.242T>G (p.Leu81Arg)	NUBP2 (L81R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202703	NM_012225.4(NUBP2):c.247C>T (p.Arg83Trp)	NUBP2 (R83W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225067	NM_012225.4(NUBP2):c.250G>C (p.Glu84Gln)	NUBP2 (E84Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526677	NM_012225.4(NUBP2):c.261C>G (p.Ile87Met)	NUBP2 (I27M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202704	NM_012225.4(NUBP2):c.272C>G (p.Ser91Cys)	NUBP2 (S91C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616312	NM_012225.4(NUBP2):c.274G>C (p.Val92Leu)	NUBP2 (V32L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362781	NM_012225.4(NUBP2):c.295C>T (p.Pro99Ser)	NUBP2 (P39S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381087	NM_012225.4(NUBP2):c.301G>A (p.Glu101Lys)	NUBP2 (E101K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384429	NM_012225.4(NUBP2):c.307G>A (p.Val103Met)	NUBP2 (V103M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544046	NM_012225.4(NUBP2):c.313T>C (p.Trp105Arg)	NUBP2 (W105R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 807348	NM_012225.4(NUBP2):c.334G>A (p.Ala112Thr)	NUBP2 (A112T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2388586	NM_012225.4(NUBP2):c.340A>G (p.Ile114Val)	NUBP2 (I114V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202705	NM_012225.4(NUBP2):c.348G>C (p.Gln116His)	NUBP2 (Q56H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202706	NM_012225.4(NUBP2):c.361G>A (p.Val121Met)	NUBP2 (V121M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264730	NM_012225.4(NUBP2):c.398C>T (p.Thr133Met)	NUBP2 (T133M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202707	NM_012225.4(NUBP2):c.434T>C (p.Ile145Thr)	NUBP2 (I85T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389213	NM_012225.4(NUBP2):c.491C>T (p.Ala164Val)	NUBP2 (A104V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775365	NM_012225.4(NUBP2):c.539C>T (p.Thr180Met)	NUBP2 (T180M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2521249	NM_012225.4(NUBP2):c.599C>T (p.Thr200Met)	NUBP2 (T59M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789827	NM_012225.4(NUBP2):c.612C>T (p.Ser204=)	NUBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2459007	NM_012225.4(NUBP2):c.628G>A (p.Gly210Ser)	NUBP2 (G210S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 807349	NM_012225.4(NUBP2):c.631G>A (p.Gly211Arg)	NUBP2 (G151R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2398425	NM_012225.4(NUBP2):c.731A>G (p.Gln244Arg)	NUBP2 (Q184R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2385729	NM_012225.4(NUBP2):c.742G>A (p.Gly248Arg)	NUBP2 (G248R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2645948	NM_012225.4(NUBP2):c.750C>T (p.Pro250=)	NUBP2 (R102C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2234812	NM_012225.4(NUBP2):c.758C>G (p.Ala253Gly)	NUBP2 (A193G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202708	NM_012225.4(NUBP2):c.800C>G (p.Pro267Arg)	NUBP2 (P267R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684773	GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	CLCN7, CRAMP1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	RHOT2, TPSAB1 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	BAIAP3, CACNA1H +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	FAHD1, CRAMP1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 685169	GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3	CRAMP1, EME2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 81