JAGN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 1263055	NC_000003.12:g.9890289C>T	JAGN1	Single nucleotide variant	not provided	GBenign
Select item 1274308	NC_000003.12:g.9890428C>T	JAGN1	Single nucleotide variant	not provided	GBenign
Select item 1255094	NC_000003.12:g.9890463C>T	JAGN1	Single nucleotide variant	not provided	GBenign
Select item 1223060	NM_032492.4(JAGN1):c.-70G>C	JAGN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 584197	NC_000003.11:g.(?_9932387)_(9935081_?)dup	JAGN1	Duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 444596	NM_032492.4(JAGN1):c.1A>G (p.Met1Val)	JAGN1 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 156113	NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	JAGN1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe congenital neutropenia +2 more	GConflicting classifications of pathogenicity
Select item 1467577	NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu)	JAGN1 (R4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 666030	NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)	JAGN1 (R4P)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1078020	NM_032492.4(JAGN1):c.12A>G (p.Arg4=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 475245	NM_032492.4(JAGN1):c.21G>C (p.Pro7=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2131310	NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)	JAGN1 (A9fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1155294	NM_032492.4(JAGN1):c.27G>A (p.Ala9=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1093866	NM_032492.4(JAGN1):c.30C>T (p.Ala10=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 156117	NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	JAGN1	Deletion (5 prime UTR variant +1 more)	Severe congenital neutropenia +1 more	GConflicting classifications of pathogenicity
Select item 3112141	NM_032492.4(JAGN1):c.35C>G (p.Thr12Ser)	JAGN1 (T12S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 475247	NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile)	JAGN1 (T12I)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GUncertain significance
Select item 2161901	NM_032492.4(JAGN1):c.36C>G (p.Thr12=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1695578	NM_032492.4(JAGN1):c.37G>A (p.Asp13Asn)	JAGN1 (D13N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 710197	NM_032492.4(JAGN1):c.39C>T (p.Asp13=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 190480	NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	JAGN1 (G14S)	Single nucleotide variant (5 prime UTR variant +1 more)	Severe congenital neutropenia +1 more	GConflicting classifications of pathogenicity
Select item 649136	NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)	JAGN1 (G14D)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1055949	NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly)	JAGN1 (S15G)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 658417	NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)	JAGN1 (D16Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2996889	NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)	JAGN1 (F17L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1128794	NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys)	JAGN1 (Q18K)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 943976	NM_032492.4(JAGN1):c.56A>G (p.His19Arg)	JAGN1 (H19R)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GConflicting classifications of pathogenicity
Select item 1132895	NM_032492.4(JAGN1):c.57C>T (p.His19=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GLikely benign
Select item 190479	NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln)	JAGN1 (R20Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 156115	NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	JAGN1 (E21D)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 841147	NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys)	JAGN1 (R22C)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 947595	NM_032492.4(JAGN1):c.70_76del (p.Ala24fs)	JAGN1 (A24fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 577875	NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)	JAGN1 (A24V)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GUncertain significance
Select item 2076435	NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)	JAGN1 (M25T)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GUncertain significance
Select item 1060531	NM_032492.4(JAGN1):c.77A>T (p.His26Leu)	JAGN1 (H26L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2888835	NM_032492.4(JAGN1):c.78C>T (p.His26=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1970256	NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)	JAGN1 (S30N)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2081420	NM_032492.4(JAGN1):c.89+1G>A	JAGN1	Single nucleotide variant (splice donor variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1057517	NM_032492.4(JAGN1):c.89+4T>C	JAGN1	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1978329	NM_032492.4(JAGN1):c.89+15G>T	JAGN1	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1269778	NM_032492.4(JAGN1):c.90-171T>C	JAGN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169114	NM_032492.4(JAGN1):c.90-20C>T	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GBenign
Select item 1612622	NM_032492.4(JAGN1):c.90-19C>T	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GBenign
Select item 1560743	NM_032492.4(JAGN1):c.90-18C>G	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 2187545	NM_032492.4(JAGN1):c.90-16C>T	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 2003392	NM_032492.4(JAGN1):c.90-13C>G	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1624567	NM_032492.4(JAGN1):c.90-9G>C	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 966622	NM_032492.4(JAGN1):c.90T>C (p.Ser30=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1168985	NM_032492.4(JAGN1):c.96T>C (p.Thr32=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2065353	NM_032492.4(JAGN1):c.102G>A (p.Lys34=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1371122	NM_032492.4(JAGN1):c.111C>G (p.Ile37Met)	JAGN1 (I37M)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1629107	NM_032492.4(JAGN1):c.117G>A (p.Lys39=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1134464	NM_032492.4(JAGN1):c.120G>A (p.Leu40=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1672029	NM_032492.4(JAGN1):c.123C>A (p.Ile41=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1512903	NM_032492.4(JAGN1):c.124T>C (p.Tyr42His)	JAGN1 (Y42H)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2144194	NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1020952	NM_032492.4(JAGN1):c.127G>A (p.Val43Ile)	JAGN1 (V43I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 156114	NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	JAGN1 (H44Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1672590	NM_032492.4(JAGN1):c.138C>T (p.Val46=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 2432941	NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)	JAGN1 (W48R)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1480106	NM_032492.4(JAGN1):c.145C>G (p.Leu49Val)	JAGN1 (L49V)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1575517	NM_032492.4(JAGN1):c.159T>C (p.Ala53=)	JAGN1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1486200	NM_032492.4(JAGN1):c.163A>T (p.Met55Leu)	JAGN1 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1113867	NM_032492.4(JAGN1):c.168C>T (p.Ser56=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 475243	NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg)	JAGN1 (G58R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 839671	NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro)	JAGN1 (L6P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1402910	NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe)	JAGN1 (L62F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1102097	NM_032492.4(JAGN1):c.186C>G (p.Leu62=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1561856	NM_032492.4(JAGN1):c.189G>A (p.Leu63=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 1480459	NM_032492.4(JAGN1):c.193C>T (p.His65Tyr)	JAGN1 (H11Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1047313	NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr)	JAGN1 (A69T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 747192	NM_032492.4(JAGN1):c.207C>T (p.Ala69=)	JAGN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1009400	NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser)	JAGN1 (P17S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +2 more	GUncertain significance
Select item 475244	NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr)	JAGN1 (P71T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2058208	NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)	JAGN1 (Y72C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 3287132	NM_032492.4(JAGN1):c.230C>T (p.Pro77Leu)	JAGN1 (P23L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475246	NM_032492.4(JAGN1):c.244A>G (p.Ile82Val)	JAGN1 (I82V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GBenign

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