ClinVar for Gene (Select 84522) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351168	NM_032492.4(JAGN1):c.252C>G (p.Pro84=)	JAGN1	Single nucleotide variant (synonymous variant)	JAGN1-related disorder	GLikely benign
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 3287131	NM_032492.4(JAGN1):c.439A>C (p.Ile147Leu)	JAGN1 (I147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3112143	NM_032492.4(JAGN1):c.475C>T (p.His159Tyr)	JAGN1 (H159Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112142	NM_032492.4(JAGN1):c.409C>T (p.Arg137Cys)	JAGN1 (R83C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3112140	NM_032492.4(JAGN1):c.251C>G (p.Pro84Arg)	JAGN1 (P30R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3051492	NM_032492.4(JAGN1):c.*9T>G	JAGN1	Single nucleotide variant (3 prime UTR variant)	JAGN1-related disorder	GLikely benign
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 2903447	NM_032492.4(JAGN1):c.540G>A (p.Lys180=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
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 2882736	NM_032492.4(JAGN1):c.354C>T (p.Gly118=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 2840819	NM_032492.4(JAGN1):c.310A>G (p.Met104Val)	JAGN1 (M104V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2788289	NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)	JAGN1 (Y45N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2752443	NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)	JAGN1 (L90F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2723685	NM_032492.4(JAGN1):c.339T>C (p.Ala113=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2508629	NM_032492.4(JAGN1):c.499A>G (p.Lys167Glu)	JAGN1 (K113E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2427431	NC_000003.11:g.(?_9908818)_(10085568_?)del	CIDEC, CRELD1 +6 more	Deletion	Candidiasis, familial, 9	GUncertain significance
Select item 2427040	NC_000003.11:g.(?_9908818)_(9932515_?)dup	CIDEC, JAGN1	Duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2230899	NM_032492.4(JAGN1):c.250C>G (p.Pro84Ala)	JAGN1 (P30A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199975	NM_032492.4(JAGN1):c.420del (p.Phe140fs)	JAGN1 (F86fs +1 more)	Deletion (frameshift variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
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 2182816	NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)	JAGN1 (L33fs +1 more)	Deletion (frameshift variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2177769	NM_032492.4(JAGN1):c.327C>G (p.Leu109=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 2176739	NM_032492.4(JAGN1):c.264C>T (p.Gly88=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
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 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 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 2113620	NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)	JAGN1 (L169F +1 more)	Single nucleotide variant (missense variant)	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 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	GUncertain significance
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 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 2041996	NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)	JAGN1 (F140C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 2007680	NM_032492.4(JAGN1):c.525C>G (p.Thr175=)	JAGN1	Single nucleotide variant (synonymous variant)	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 1981339	NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)	JAGN1 (I105V +1 more)	Single nucleotide variant (missense 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 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 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807789	GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	BRK1, CIDEC +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1698838	NM_032492.4(JAGN1):c.*9T>C	JAGN1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GBenign
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 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 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 1633695	NM_032492.4(JAGN1):c.480C>T (p.Ala160=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
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 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 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 1585047	NM_032492.4(JAGN1):c.336C>T (p.Ile112=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GBenign
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 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 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 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
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 1503991	NM_032492.4(JAGN1):c.443T>C (p.Met148Thr)	JAGN1 (M94T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1499691	NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser)	JAGN1 (L33S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1489464	NM_032492.4(JAGN1):c.319A>G (p.Met107Val)	JAGN1 (M107V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
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 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 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 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 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1412574	NC_000003.11:g.(?_9908818)_(10191649_?)dup	BRK1, CIDEC +9 more	Duplication	Candidiasis, familial, 9 +1 more	GUncertain significance
Select item 1409634	NM_032492.4(JAGN1):c.334A>G (p.Ile112Val)	JAGN1 (I58V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1403166	NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys)	JAGN1 (S166C +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 1400765	NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu)	JAGN1 (F120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1388265	NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg)	JAGN1 (G141R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
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 1370140	NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys)	JAGN1 (W173C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1366171	NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys)	JAGN1 (Y130C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1361485	NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg)	JAGN1 (K127R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1328451	GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1274308	NC_000003.12:g.9890428C>T	JAGN1	Single nucleotide variant	not provided	GBenign
Select item 1269778	NM_032492.4(JAGN1):c.90-171T>C	JAGN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269523	NM_032492.4(JAGN1):c.*202A>G	JAGN1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263055	NC_000003.12:g.9890289C>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 1205600	NM_032492.4(JAGN1):c.258_259del (p.Leu87fs)	JAGN1 (L33fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1176145	NM_032492.4(JAGN1):c.330_331del (p.Ser111fs)	JAGN1 (S111fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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

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