Related gene-specific medical variations for Gene (Select 92579) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068011	NM_138387.4(G6PC3):c.678-1G>T	G6PC3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely pathogenic
Select item 3065429	NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter)	G6PC3 (A145T +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 3011254	NM_138387.4(G6PC3):c.218+9G>C	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 3003720	NM_138387.4(G6PC3):c.218+17del	G6PC3, LOC130060959	Deletion (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2998934	NM_138387.4(G6PC3):c.218+14G>C	G6PC3, LOC130060959	Single nucleotide variant (intron variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2990742	NM_138387.4(G6PC3):c.108G>A (p.Lys36=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2974225	NM_138387.4(G6PC3):c.218+20C>T	G6PC3, LOC130060959	Single nucleotide variant (intron variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2963894	NM_138387.4(G6PC3):c.171G>A (p.Val57=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2962090	NM_138387.4(G6PC3):c.105C>A (p.Pro35=)	LOC130060959, G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2959481	NM_138387.4(G6PC3):c.168G>T (p.Ala56=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2918188	NM_138387.4(G6PC3):c.218+8A>G	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2907559	NM_138387.4(G6PC3):c.81C>G (p.Leu27=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2886486	NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2858133	NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)	G6PC3, LOC130060959 (W21*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2853520	NM_138387.4(G6PC3):c.163del (p.Ile55fs)	G6PC3, LOC130060959 (I55fs)	Deletion (frameshift variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2823599	NM_138387.4(G6PC3):c.165C>T (p.Ile55=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2817003	NM_138387.4(G6PC3):c.207C>T (p.Leu69=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2806096	NM_138387.4(G6PC3):c.57A>G (p.Leu19=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2802247	NM_138387.4(G6PC3):c.99C>A (p.Gly33=)	LOC130060959, G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2785097	NM_138387.4(G6PC3):c.99C>T (p.Gly33=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2777278	NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)	G6PC3, LOC130060959 (F71fs)	Deletion (frameshift variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2767618	NM_138387.4(G6PC3):c.218+2T>C	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2765506	NM_138387.4(G6PC3):c.218+16C>T	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2753468	NM_138387.4(G6PC3):c.129C>T (p.Phe43=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2750855	NM_138387.4(G6PC3):c.87C>A (p.Ile29=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2750293	NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)	G6PC3, LOC130060959 (W21*)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2747775	NM_138387.4(G6PC3):c.60C>G (p.Ala20=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2736600	NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)	G6PC3, LOC130060959 (P44L)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2717221	NM_138387.4(G6PC3):c.90C>T (p.Thr30=)	G6PC3, LOC130060959	Single nucleotide variant (intron variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2703148	NM_138387.4(G6PC3):c.218+18T>C	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2697685	NM_138387.4(G6PC3):c.215del (p.Lys72fs)	G6PC3, LOC130060959 (K72fs)	Deletion (frameshift variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2683425	NM_138387.4(G6PC3):c.160G>A (p.Gly54Ser)	G6PC3, LOC130060959 (G54S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2441599	NM_138387.4(G6PC3):c.218+486A>G	G6PC3	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2333571	NM_138387.4(G6PC3):c.143A>G (p.Tyr48Cys)	G6PC3, LOC130060959 (Y48C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2161829	NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)	G6PC3, LOC130060959 (Y42N)	Single nucleotide variant (intron variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2111419	NM_138387.4(G6PC3):c.207C>G (p.Leu69=)	LOC130060959, G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2077849	NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)	G6PC3, LOC130060959	Duplication (intron variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2035931	NM_138387.4(G6PC3):c.138C>T (p.Ala46=)	LOC130060959, G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1951776	NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)	G6PC3, LOC130060959 (A49V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1951678	NM_138387.4(G6PC3):c.147C>T (p.Ala49=)	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1717434	NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)	G6PC3, LOC130060959 (Y48D)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1715418	NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)	G6PC3, LOC130060959 (N68S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1705639	NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)	G6PC3, LOC130060959 (Y48*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1679806	NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg)	G6PC3, LOC130060959 (S61R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1658627	NM_138387.4(G6PC3):c.171G>T (p.Val57=)	G6PC3, LOC130060959	Single nucleotide variant (intron variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1657697	NM_138387.4(G6PC3):c.81C>T (p.Leu27=)	LOC130060959, G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1515006	NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser)	G6PC3, LOC130060959 (I37S)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1514976	NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp)	LOC130060959, G6PC3 (G33D)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1480794	NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr)	G6PC3, LOC130060959 (A49T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1430600	NM_138387.4(G6PC3):c.218+1G>A	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 1402926	NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe)	G6PC3, LOC130060959 (L62F)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1389290	NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln)	G6PC3, LOC130060959 (K36Q)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1362301	NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr)	G6PC3, LOC130060959 (I29T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1146814	NM_138387.4(G6PC3):c.192C>T (p.Thr64=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1132350	NM_138387.4(G6PC3):c.213C>T (p.Phe71=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1114437	NM_138387.4(G6PC3):c.132C>T (p.Pro44=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1111985	NM_138387.4(G6PC3):c.153C>G (p.Arg51=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 1047860	NC_000017.10:g.(?_42151521)_42160591dup	G6PC3	Duplication	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1043833	NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr)	G6PC3, LOC130060959 (A56T)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 1014217	NM_138387.4(G6PC3):c.169G>A (p.Val57Met)	G6PC3, LOC130060959 (V57M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 987353	NM_138387.4(G6PC3):c.684del (p.Ser229fs)	G6PC3 (Q189fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987352	NM_138387.4(G6PC3):c.680_682del (p.Ser227_Ile228delinsPhe)	G6PC3 (H188del)	Deletion (inframe_deletion +1 more)	not provided	GPathogenic
Select item 976228	NM_138387.4(G6PC3):c.101A>T (p.Asp34Val)	G6PC3, LOC130060959 (D34V)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 853860	NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg)	G6PC3, LOC130060959 (W59R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GUncertain significance
Select item 790915	NM_138387.4(G6PC3):c.59C>T (p.Ala20Val)	G6PC3, LOC130060959 (A20V)	Single nucleotide variant (missense variant +2 more)	G6PC3-related disorder +1 more	GBenign/Likely benign
Select item 738941	NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)	G6PC3, LOC130060959 (I63L)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 730066	NM_138387.4(G6PC3):c.189C>T (p.Ile63=)	LOC130060959, G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +2 more	GBenign/Likely benign
Select item 691994	NM_138387.4(G6PC3):c.199_218+1del	G6PC3, LOC130060959	Deletion (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GPathogenic
Select item 691992	NM_138387.4(G6PC3):c.207dup (p.Ile70fs)	G6PC3, LOC130060959 (I70fs)	Duplication (frameshift variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GPathogenic
Select item 632283	NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter)	G6PC3, LOC130060959 (Y48*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely pathogenic
Select item 323461	NM_138387.4(G6PC3):c.201C>T (p.Leu67=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GConflicting classifications of pathogenicity
Select item 323460	NM_138387.4(G6PC3):c.187A>G (p.Ile63Val)	G6PC3, LOC130060959 (I63V)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 262365	NM_138387.4(G6PC3):c.219-50C>G	G6PC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 189782	NM_138387.4(G6PC3):c.210del (p.Phe71fs)	G6PC3, LOC130060959 (F71fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 189781	NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)	G6PC3, LOC130060959 (P44S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1039	NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)	G6PC3, LOC130060959 (Y47*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic

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Items: 76