NPIPB3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 2352995	NM_130464.3(NPIPB3):c.3068C>T (p.Pro1023Leu)	NPIPB3 (P1023L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342403	NM_130464.3(NPIPB3):c.2801C>T (p.Pro934Leu)	NPIPB3 (P934L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343708	NM_130464.3(NPIPB3):c.1171C>T (p.Arg391Cys)	NPIPB3 (R391C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225780	NM_130464.3(NPIPB3):c.1168G>A (p.Glu390Lys)	NPIPB3 (E390K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370418	NM_130464.3(NPIPB3):c.1085C>T (p.Ala362Val)	NPIPB3 (A362V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351314	NM_130464.3(NPIPB3):c.916G>C (p.Glu306Gln)	NPIPB3 (E306Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407590	NM_130464.3(NPIPB3):c.738G>C (p.Gln246His)	NPIPB3 (Q246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386499	NM_130464.3(NPIPB3):c.713C>T (p.Thr238Ile)	NPIPB3 (T238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409210	NM_130464.3(NPIPB3):c.541A>G (p.Lys181Glu)	NPIPB3 (K181E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2251693	NM_130464.3(NPIPB3):c.106G>A (p.Glu36Lys)	NPIPB3 (E36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685563	GRCh37/hg19 16p12.2(chr16:21405328-21841354)x1	IGSF6, METTL9 +2 more	Copy number loss	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 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 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 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	SPNS1, SULT1A1 +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394973	GRCh37/hg19 16p12.2(chr16:21415521-21521511)x3	NPIPB3	Copy number gain	See cases	GBenign
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 252982	GRCh37/hg19 16p12.2(chr16:21313377-21947230)x1	CRYM, IGSF6 +4 more	Copy number loss	See cases	GUncertain significance
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 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: 33