NABP1[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3172510	NM_001031716.5(NABP1):c.14A>G (p.Asn5Ser)	NABP1 (N5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220024	NM_001031716.5(NABP1):c.37G>A (p.Asp13Asn)	NABP1 (D13N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172529	NM_001031716.5(NABP1):c.41T>C (p.Ile14Thr)	NABP1 (I14T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489149	NM_001031716.5(NABP1):c.59A>G (p.Asn20Ser)	NABP1 (N20S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556388	NM_001031716.5(NABP1):c.94C>T (p.Arg32Cys)	NABP1 (R32C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172546	NM_001031716.5(NABP1):c.95G>A (p.Arg32His)	NABP1 (R32H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621851	NM_001031716.5(NABP1):c.115G>A (p.Gly39Ser)	NABP1 (G39S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172514	NM_001031716.5(NABP1):c.281G>T (p.Gly94Val)	NABP1 (G94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262940	NM_001031716.5(NABP1):c.313G>A (p.Val105Ile)	NABP1 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522022	NM_001031716.5(NABP1):c.376G>C (p.Gly126Arg)	NABP1 (G126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292892	NM_001031716.5(NABP1):c.470A>G (p.Glu157Gly)	NABP1 (E157G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527956	NM_001031716.5(NABP1):c.484C>G (p.Gln162Glu)	NABP1 (Q162E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298330	NM_001031716.5(NABP1):c.514C>T (p.Arg172Trp)	NABP1 (R172W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172540	NM_001031716.5(NABP1):c.544A>G (p.Thr182Ala)	NABP1 (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172541	NM_001031716.5(NABP1):c.553A>G (p.Asn185Asp)	NABP1 (N105D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298331	NM_001031716.5(NABP1):c.592C>T (p.Pro198Ser)	NABP1 (P198S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1340150	GRCh37/hg19 2q32.3(chr2:192323573-193027319)x1	CAVIN2, NABP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979393	GRCh37/hg19 2q32.3(chr2:192323572-193027152)x1	CAVIN2, TMEFF2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	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: 46