NUP42[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 3203197	NM_007342.3(NUP42):c.4G>A (p.Ala2Thr)	LOC129998064, NUP42 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2462207	NM_007342.3(NUP42):c.7A>G (p.Ile3Val)	LOC129998064, NUP42 (I3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203195	NM_007342.3(NUP42):c.37C>A (p.Arg13Ser)	LOC129998064, NUP42 (R13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203196	NM_007342.3(NUP42):c.43G>A (p.Gly15Arg)	LOC129998064, NUP42 (G15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203200	NM_007342.3(NUP42):c.73G>A (p.Ala25Thr)	LOC129998064, NUP42 (A25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203201	NM_007342.3(NUP42):c.74C>T (p.Ala25Val)	LOC129998064, NUP42 (A25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203188	NM_007342.3(NUP42):c.133C>T (p.Arg45Cys)	NUP42 (R45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522814	NM_007342.3(NUP42):c.134G>A (p.Arg45His)	NUP42 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203190	NM_007342.3(NUP42):c.167A>T (p.Asn56Ile)	NUP42 (N56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492643	NM_007342.3(NUP42):c.184A>G (p.Ser62Gly)	NUP42 (S62G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610412	NM_007342.3(NUP42):c.185G>A (p.Ser62Asn)	NUP42 (S62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203191	NM_007342.3(NUP42):c.206G>C (p.Trp69Ser)	NUP42 (W69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301565	NM_007342.3(NUP42):c.207G>C (p.Trp69Cys)	NUP42 (W69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203192	NM_007342.3(NUP42):c.265A>G (p.Thr89Ala)	NUP42 (T89A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203193	NM_007342.3(NUP42):c.281G>T (p.Gly94Val)	NUP42 (G94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550941	NM_007342.3(NUP42):c.296A>T (p.Glu99Val)	NUP42 (E99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203194	NM_007342.3(NUP42):c.371T>C (p.Met124Thr)	NUP42 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203198	NM_007342.3(NUP42):c.532G>A (p.Val178Ile)	NUP42 (V178I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3301564	NM_007342.3(NUP42):c.538C>T (p.Arg180Cys)	NUP42 (R57C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203199	NM_007342.3(NUP42):c.548A>T (p.Asn183Ile)	NUP42 (N183I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203202	NM_007342.3(NUP42):c.776C>A (p.Ser259Tyr)	NUP42 (S61Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477133	NM_007342.3(NUP42):c.833G>A (p.Ser278Asn)	NUP42 (S80N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301567	NM_007342.3(NUP42):c.856C>G (p.Pro286Ala)	NUP42 (P163A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203203	NM_007342.3(NUP42):c.877C>G (p.Pro293Ala)	NUP42 (P170A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301566	NM_007342.3(NUP42):c.909C>G (p.Phe303Leu)	NUP42 (F180L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611045	NM_007342.3(NUP42):c.932T>G (p.Phe311Cys)	NUP42 (F311C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203184	NM_007342.3(NUP42):c.1010G>C (p.Gly337Ala)	NUP42 (G214A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203185	NM_007342.3(NUP42):c.1018A>G (p.Ser340Gly)	NUP42 (S142G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515830	NM_007342.3(NUP42):c.1030G>A (p.Gly344Ser)	NUP42 (G344S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514347	NM_007342.3(NUP42):c.1150A>G (p.Asn384Asp)	NUP42 (N261D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473942	NM_007342.3(NUP42):c.1163C>T (p.Thr388Ile)	NUP42 (T413I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551204	NM_007342.3(NUP42):c.1184T>G (p.Val395Gly)	NUP42 (V395G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203186	NM_007342.3(NUP42):c.1214A>C (p.Lys405Thr)	NUP42 (K402T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203187	NM_007342.3(NUP42):c.1261C>A (p.Leu421Ile)	NUP42 (L223I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245859	NC_000007.13:g.(?_23205563)_(23284243_?)del	KLHL7, NUP42	Deletion	not provided	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2684484	GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	GPNMB, CCDC126 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807992	GRCh37/hg19 7p15.3(chr7:22949862-23470342)x3	GPNMB, HYCC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527341	GRCh37/hg19 7p15.3(chr7:22574536-23357770)	GPNMB, HYCC1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 67