ClinVar for MedGen (Select 863391) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2427040	NC_000003.11:g.(?_9908818)_(9932515_?)dup	CIDEC, JAGN1	Duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	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 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 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 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 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 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 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 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
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 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 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 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 1113933	NM_032492.4(JAGN1):c.330T>C (p.Phe110=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
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 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 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 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 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 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 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 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 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 1017842	NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg)	JAGN1 (W119R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1011467	NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn)	JAGN1 (S106N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
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 1006422	NM_032492.4(JAGN1):c.346A>G (p.Ile116Val)	JAGN1 (I116V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1002786	NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg)	JAGN1 (K114R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
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 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 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 939939	NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter)	JAGN1 (Q127* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 858153	NM_032492.4(JAGN1):c.394C>T (p.His132Tyr)	JAGN1 (H132Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 848863	NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly)	JAGN1 (R40G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 847039	NM_032492.4(JAGN1):c.392G>A (p.Arg131His)	JAGN1 (R77H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 843940	NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del)	JAGN1 (K181del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
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 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 788190	NM_032492.4(JAGN1):c.315C>A (p.Ile105=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GBenign
Select item 761833	NM_032492.4(JAGN1):c.432C>T (p.Ala144=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
Select item 737096	NM_032492.4(JAGN1):c.279C>T (p.Pro93=)	JAGN1	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GLikely benign
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 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 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 649445	NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)	JAGN1 (V91I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
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 584197	NC_000003.11:g.(?_9932387)_(9935081_?)dup	JAGN1	Duplication	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	GUncertain significance

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