NPBWR1[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 148374	GRCh38/hg38 8q11.23(chr8:52294744-53104010)x3	ALKAL1, LOC108281129 +17 more	Copy number gain	See cases	GLikely benign
Select item 150753	GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GLikely benign
Select item 150998	GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GUncertain significance
Select item 545368	Single allele	LINC02984, LOC105375836 +19 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545369	Single allele	LOC126860388, LOC130000363 +6 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 146387	GRCh38/hg38 8q11.23(chr8:52875424-53454793)x3	LOC105375836, LOC126860389 +9 more	Copy number gain	See cases	GUncertain significance
Select item 145796	GRCh38/hg38 8q11.23(chr8:52910511-53030364)x3	LOC130000368, NPBWR1	Copy number gain	See cases	GBenign
Select item 2212901	NM_005285.5(NPBWR1):c.224T>A (p.Phe75Tyr)	NPBWR1 (F75Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324490	NM_005285.5(NPBWR1):c.367A>C (p.Ser123Arg)	NPBWR1 (S123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403558	NM_005285.5(NPBWR1):c.374A>G (p.Tyr125Cys)	NPBWR1 (Y125C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531375	NM_005285.5(NPBWR1):c.436C>G (p.Arg146Gly)	NPBWR1 (R146G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377752	NM_005285.5(NPBWR1):c.437G>A (p.Arg146Gln)	NPBWR1 (R146Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252918	NM_005285.5(NPBWR1):c.505G>C (p.Val169Leu)	NPBWR1 (V169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248079	NM_005285.5(NPBWR1):c.613C>T (p.Leu205Phe)	NPBWR1 (L205F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559185	NM_005285.5(NPBWR1):c.620C>A (p.Thr207Lys)	NPBWR1 (T207K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557199	NM_005285.5(NPBWR1):c.715G>A (p.Ala239Thr)	NPBWR1 (A239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495855	NM_005285.5(NPBWR1):c.749C>A (p.Thr250Asn)	NPBWR1 (T250N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287741	NM_005285.5(NPBWR1):c.773C>T (p.Ala258Val)	NPBWR1 (A258V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295901	NM_005285.5(NPBWR1):c.842A>G (p.Gln281Arg)	NPBWR1 (Q281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518028	NM_005285.5(NPBWR1):c.862A>G (p.Ile288Val)	NPBWR1 (I288V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530408	NM_005285.5(NPBWR1):c.934G>T (p.Ala312Ser)	NPBWR1 (A312S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241406	NM_005285.5(NPBWR1):c.946A>G (p.Arg316Gly)	NPBWR1 (R316G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789767	NM_005285.5(NPBWR1):c.955C>T (p.Arg319Cys)	NPBWR1 (R319C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2537834	NM_005285.5(NPBWR1):c.971G>A (p.Cys324Tyr)	NPBWR1 (C324Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404535	NM_005285.5(NPBWR1):c.973C>G (p.Arg325Gly)	NPBWR1 (R325G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024644	GRCh37/hg19 8q11.23(chr8:53384715-53917710)x3	ALKAL1, NPBWR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527431	GRCh37/hg19 8q11.23(chr8:53348708-53892198)	ALKAL1, NPBWR1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 815128	GRCh37/hg19 8q11.23(chr8:53383339-53856239)x3	RB1CC1, NPBWR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685588	GRCh37/hg19 8q11.23(chr8:53548484-54017118)x1	NPBWR1, RB1CC1	Copy number loss	not provided	GUncertain significance
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	ALKAL1, ATP6V1H +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442969	GRCh37/hg19 8q11.23(chr8:53716052-54365675)x3	NPBWR1, OPRK1	Copy number gain	See cases	GLikely benign
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	AP3M2, ASH2L +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ATP6V1H, NPBWR1 +36 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: 54