NUBP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 153642	GRCh38/hg38 16p13.13(chr16:10560475-10775716)x1	EMP2, LOC105371079 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2607946	NM_002484.4(NUBP1):c.10G>T (p.Val4Leu)	NUBP1 (V4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202695	NM_002484.4(NUBP1):c.38G>C (p.Ser13Thr)	NUBP1 (S13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301336	NM_002484.4(NUBP1):c.56G>T (p.Gly19Val)	NUBP1 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520275	NM_002484.4(NUBP1):c.80A>G (p.Asn27Ser)	NUBP1 (N27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202701	NM_002484.4(NUBP1):c.94G>C (p.Ala32Pro)	NUBP1 (A32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549749	NM_002484.4(NUBP1):c.107G>C (p.Gly36Ala)	NUBP1 (G36A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202692	NM_002484.4(NUBP1):c.154A>C (p.Thr52Pro)	NUBP1 (T3P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619934	NM_002484.4(NUBP1):c.164A>G (p.His55Arg)	NUBP1 (H55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202693	NM_002484.4(NUBP1):c.213C>A (p.Phe71Leu)	NUBP1 (F71L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378723	NM_002484.4(NUBP1):c.230A>G (p.His77Arg)	NUBP1 (H28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202694	NM_002484.4(NUBP1):c.274A>G (p.Ile92Val)	NUBP1 (I92V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404216	NM_002484.4(NUBP1):c.287G>A (p.Gly96Glu)	NUBP1 (G96E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607632	NM_002484.4(NUBP1):c.296T>G (p.Ile99Ser)	NUBP1 (I99S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646203	NM_002484.4(NUBP1):c.303G>A (p.Lys101=)	NUBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271070	NM_002484.4(NUBP1):c.311G>A (p.Gly104Glu)	NUBP1 (G55E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301335	NM_002484.4(NUBP1):c.338G>A (p.Ser113Asn)	NUBP1 (S113N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202696	NM_002484.4(NUBP1):c.436G>A (p.Gly146Arg)	NUBP1 (G146R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299187	NM_002484.4(NUBP1):c.446A>G (p.Lys149Arg)	NUBP1 (K138R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406434	NM_002484.4(NUBP1):c.490G>A (p.Glu164Lys)	NUBP1, TVP23A (E153K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202697	NM_002484.4(NUBP1):c.545C>T (p.Ser182Leu)	NUBP1, TVP23A (S171L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202698	NM_002484.4(NUBP1):c.575T>C (p.Ile192Thr)	NUBP1, TVP23A (I143T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539256	NM_002484.4(NUBP1):c.591C>G (p.Ile197Met)	NUBP1, TVP23A (I186M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279267	NM_002484.4(NUBP1):c.690G>C (p.Met230Ile)	NUBP1, TVP23A (M207I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494585	NM_002484.4(NUBP1):c.691A>C (p.Ser231Arg)	NUBP1, TVP23A (S220R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557276	NM_002484.4(NUBP1):c.733T>A (p.Phe245Ile)	NUBP1, TVP23A (F234I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308508	NM_002484.4(NUBP1):c.752G>A (p.Gly251Asp)	NUBP1, TVP23A (G202D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646204	NM_002484.4(NUBP1):c.753C>T (p.Gly251=)	TVP23A, NUBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2397099	NM_002484.4(NUBP1):c.754G>A (p.Ala252Thr)	NUBP1, TVP23A (A252T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202700	NM_002484.4(NUBP1):c.772G>C (p.Asp258His)	NUBP1, TVP23A (D209H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619993	NM_002484.4(NUBP1):c.781G>A (p.Val261Ile)	NUBP1, TVP23A (V261I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2316359	NM_002484.4(NUBP1):c.809A>G (p.Asp270Gly)	NUBP1, TVP23A (D247G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348455	NM_002484.4(NUBP1):c.854T>G (p.Ile285Ser)	NUBP1, TVP23A (I274S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322477	NM_002484.4(NUBP1):c.854T>C (p.Ile285Thr)	NUBP1, TVP23A (I285T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3301337	NM_002484.4(NUBP1):c.883G>C (p.Ala295Pro)	NUBP1, TVP23A (A295P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3301334	NM_002484.4(NUBP1):c.907A>T (p.Ile303Phe)	NUBP1, TVP23A (I275F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530438	NM_002484.4(NUBP1):c.914A>G (p.Glu305Gly)	NUBP1, TVP23A (E277G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685553	GRCh37/hg19 16p13.13(chr16:10671445-10864286)x1	EMP2, NUBP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 2422627	NC_000016.9:g.(?_10637407)_(10971259_?)del	CIITA, EMP2 +3 more	Deletion	MHC class II deficiency	GPathogenic
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	NUBP1, PMM2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 688399	GRCh37/hg19 16p13.13(chr16:10563055-10958954)x1	ATF7IP2, EMP2 +3 more	Copy number loss	not provided	GPathogenic
Select item 684953	GRCh37/hg19 16p13.2-13.13(chr16:10196800-11037738)x1	DEXI, EMP2 +6 more	Copy number loss	not provided	GPathogenic
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
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 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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 442605	GRCh37/hg19 16p13.13(chr16:10519916-11249329)x3	ATF7IP2, CIITA +6 more	Copy number gain	See cases	GLikely benign
Select item 441882	GRCh37/hg19 16p13.2-13.13(chr16:9321032-10971457)x3	CIITA, EMP2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67