NPBWR1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 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 3201562	NM_005285.5(NPBWR1):c.97C>T (p.Pro33Ser)	NPBWR1 (P33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201556	NM_005285.5(NPBWR1):c.139A>T (p.Ile47Phe)	NPBWR1 (I47F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201557	NM_005285.5(NPBWR1):c.151G>A (p.Gly51Ser)	NPBWR1 (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201558	NM_005285.5(NPBWR1):c.200G>A (p.Arg67His)	NPBWR1 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212901	NM_005285.5(NPBWR1):c.224T>A (p.Phe75Tyr)	NPBWR1 (F75Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300739	NM_005285.5(NPBWR1):c.365C>T (p.Ser122Phe)	NPBWR1 (S122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324490	NM_005285.5(NPBWR1):c.367A>C (p.Ser123Arg)	NPBWR1 (S123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403558	NM_005285.5(NPBWR1):c.374A>G (p.Tyr125Cys)	NPBWR1 (Y125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531375	NM_005285.5(NPBWR1):c.436C>G (p.Arg146Gly)	NPBWR1 (R146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377752	NM_005285.5(NPBWR1):c.437G>A (p.Arg146Gln)	NPBWR1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300737	NM_005285.5(NPBWR1):c.466C>T (p.Arg156Cys)	NPBWR1 (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300736	NM_005285.5(NPBWR1):c.477C>A (p.Ser159Arg)	NPBWR1 (S159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252918	NM_005285.5(NPBWR1):c.505G>C (p.Val169Leu)	NPBWR1 (V169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201559	NM_005285.5(NPBWR1):c.565G>A (p.Val189Met)	NPBWR1 (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248079	NM_005285.5(NPBWR1):c.613C>T (p.Leu205Phe)	NPBWR1 (L205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559185	NM_005285.5(NPBWR1):c.620C>A (p.Thr207Lys)	NPBWR1 (T207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300738	NM_005285.5(NPBWR1):c.668A>T (p.Tyr223Phe)	NPBWR1 (Y223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557199	NM_005285.5(NPBWR1):c.715G>A (p.Ala239Thr)	NPBWR1 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495855	NM_005285.5(NPBWR1):c.749C>A (p.Thr250Asn)	NPBWR1 (T250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287741	NM_005285.5(NPBWR1):c.773C>T (p.Ala258Val)	NPBWR1 (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201560	NM_005285.5(NPBWR1):c.810C>A (p.Ser270Arg)	NPBWR1 (S270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295901	NM_005285.5(NPBWR1):c.842A>G (p.Gln281Arg)	NPBWR1 (Q281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518028	NM_005285.5(NPBWR1):c.862A>G (p.Ile288Val)	NPBWR1 (I288V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300740	NM_005285.5(NPBWR1):c.893C>A (p.Ala298Asp)	NPBWR1 (A298D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530408	NM_005285.5(NPBWR1):c.934G>T (p.Ala312Ser)	NPBWR1 (A312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241406	NM_005285.5(NPBWR1):c.946A>G (p.Arg316Gly)	NPBWR1 (R316G)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2404535	NM_005285.5(NPBWR1):c.973C>G (p.Arg325Gly)	NPBWR1 (R325G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +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	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +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	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +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)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 65