DEF6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2824083	NM_022047.4(DEF6):c.9G>A (p.Leu3=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911872	NM_022047.4(DEF6):c.10C>T (p.Arg4Cys)	DEF6 (R4C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431394	NM_022047.4(DEF6):c.11G>A (p.Arg4His)	DEF6 (R4H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1486452	NM_022047.4(DEF6):c.13A>G (p.Lys5Glu)	DEF6 (K5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992437	NM_022047.4(DEF6):c.39C>T (p.Tyr13=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546597	NM_022047.4(DEF6):c.45T>C (p.Phe15=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005967	NM_022047.4(DEF6):c.48C>T (p.Thr16=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022847	NM_022047.4(DEF6):c.49G>A (p.Ala17Thr)	DEF6 (A17T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066314	NM_022047.4(DEF6):c.50C>T (p.Ala17Val)	DEF6 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538427	NM_022047.4(DEF6):c.51G>A (p.Ala17=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910696	NM_022047.4(DEF6):c.54G>A (p.Leu18=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723577	NM_022047.4(DEF6):c.57C>T (p.Asp19=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170593	NM_022047.4(DEF6):c.78C>T (p.Val26=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2711458	NM_022047.4(DEF6):c.86C>G (p.Ser29Cys)	DEF6 (S29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642407	NM_022047.4(DEF6):c.90G>A (p.Gln30=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578205	NM_022047.4(DEF6):c.96+8G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638107	NM_022047.4(DEF6):c.96+13C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644962	NM_022047.4(DEF6):c.96+14G>C	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631555	NM_022047.4(DEF6):c.96+14G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587117	NM_022047.4(DEF6):c.96+16G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965951	NM_022047.4(DEF6):c.96+17A>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091430	NM_022047.4(DEF6):c.96+19C>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955754	NM_022047.4(DEF6):c.96+20C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925504	NM_022047.4(DEF6):c.97-18C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925233	NM_022047.4(DEF6):c.97-11_97-7del	DEF6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1638030	NM_022047.4(DEF6):c.97-16C>G	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565355	NM_022047.4(DEF6):c.97-7A>G	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853603	NM_022047.4(DEF6):c.102G>A (p.Leu34=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081264	NM_022047.4(DEF6):c.119C>T (p.Thr40Met)	DEF6 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3015590	NM_022047.4(DEF6):c.120G>A (p.Thr40=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871995	NM_022047.4(DEF6):c.120G>C (p.Thr40=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670476	NM_022047.4(DEF6):c.135C>T (p.Pro45=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936437	NM_022047.4(DEF6):c.136C>T (p.His46Tyr)	DEF6 (H46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999545	NM_022047.4(DEF6):c.171TGA[2] (p.Asp60del)	DEF6 (D60del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1570902	NM_022047.4(DEF6):c.177T>C (p.Asp59=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638215	NM_022047.4(DEF6):c.180C>T (p.Asp60=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946719	NM_022047.4(DEF6):c.198G>A (p.Gln66=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794761	NM_022047.4(DEF6):c.213C>T (p.Tyr71=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170360	NM_022047.4(DEF6):c.216C>T (p.Leu72=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1585018	NM_022047.4(DEF6):c.237+7C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669099	NM_022047.4(DEF6):c.237+13T>C	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700105	NM_022047.4(DEF6):c.237+14T>C	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611072	NM_022047.4(DEF6):c.237+15G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770828	NM_022047.4(DEF6):c.237+18G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123420	NM_022047.4(DEF6):c.238-17T>G	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983958	NM_022047.4(DEF6):c.238-14A>G	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673868	NM_022047.4(DEF6):c.246G>A (p.Glu82=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325786	NM_022047.4(DEF6):c.256G>C (p.Val86Leu)	DEF6 (V86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1713551	NM_022047.4(DEF6):c.257T>A (p.Val86Asp)	DEF6 (V86D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321216	NM_022047.4(DEF6):c.268T>G (p.Phe90Val)	DEF6 (F90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2818026	NM_022047.4(DEF6):c.277C>T (p.Leu93=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664664	NM_022047.4(DEF6):c.288G>A (p.Thr96=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048282	NM_022047.4(DEF6):c.294G>A (p.Thr98=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2419245	NM_022047.4(DEF6):c.310C>T (p.Arg104Trp)	DEF6 (R104W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1503063	NM_022047.4(DEF6):c.311G>C (p.Arg104Pro)	DEF6 (R104P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1615428	NM_022047.4(DEF6):c.316G>C (p.Asp106His)	DEF6 (D106H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1621213	NM_022047.4(DEF6):c.324C>T (p.Asn108=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1019031	NM_022047.4(DEF6):c.330C>G (p.Asn110Lys)	DEF6 (N110K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169523	NM_022047.4(DEF6):c.357C>T (p.Phe119=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1362937	NM_022047.4(DEF6):c.423+3G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1462900	NM_022047.4(DEF6):c.423+6G>A	DEF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1982785	NM_022047.4(DEF6):c.423+7G>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917773	NM_022047.4(DEF6):c.423+11T>A	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939521	NM_022047.4(DEF6):c.423+14C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532114	NM_022047.4(DEF6):c.423+19C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583705	NM_022047.4(DEF6):c.424-4C>T	DEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2163903	NM_022047.4(DEF6):c.461G>A (p.Ser154Asn)	DEF6 (S154N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341305	NM_022047.4(DEF6):c.476_485del (p.Leu159fs)	DEF6 (L159fs)	Deletion (frameshift variant)	Immunodeficiency 87 and autoimmunity	GLikely pathogenic
Select item 1939455	NM_022047.4(DEF6):c.476T>C (p.Leu159Ser)	DEF6 (L159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496802	NM_022047.4(DEF6):c.506_514del (p.Glu169_Gln171del)	DEF6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2059477	NM_022047.4(DEF6):c.503A>G (p.Gln168Arg)	DEF6 (Q168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715010	NM_022047.4(DEF6):c.527C>G (p.Thr176Ser)	DEF6 (T176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711442	NM_022047.4(DEF6):c.528C>T (p.Thr176=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2815762	NM_022047.4(DEF6):c.534del (p.Leu179fs)	DEF6 (L179fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2441680	NM_022047.4(DEF6):c.529G>A (p.Gly177Arg)	DEF6 (G177R)	Single nucleotide variant (missense variant)	Immunodeficiency 87 and autoimmunity	GUncertain significance
Select item 2119326	NM_022047.4(DEF6):c.530G>T (p.Gly177Val)	DEF6 (G177V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058267	NM_022047.4(DEF6):c.531G>T (p.Gly177=)	DEF6	Single nucleotide variant (synonymous variant)	DEF6-related disorder	GLikely benign
Select item 1899029	NM_022047.4(DEF6):c.531G>A (p.Gly177=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815764	NM_022047.4(DEF6):c.534G>T (p.Gly178=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200723	NM_022047.4(DEF6):c.534G>C (p.Gly178=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662436	NM_022047.4(DEF6):c.540C>T (p.Ser180=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172906	NM_022047.4(DEF6):c.541G>A (p.Val181Ile)	DEF6 (V181I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415139	NM_022047.4(DEF6):c.552C>A (p.Phe184Leu)	DEF6 (F184L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103065	NM_022047.4(DEF6):c.556G>C (p.Glu186Gln)	DEF6 (E186Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649428	NM_022047.4(DEF6):c.561C>T (p.Leu187=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441139	NM_022047.4(DEF6):c.569C>T (p.Ser190Leu)	DEF6 (S190L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1363375	NM_022047.4(DEF6):c.570G>A (p.Ser190=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589070	NM_022047.4(DEF6):c.573C>G (p.Gly191=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148566	NM_022047.4(DEF6):c.574C>T (p.Arg192Cys)	DEF6 (R192C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134164	NM_022047.4(DEF6):c.575G>A (p.Arg192His)	DEF6 (R192H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472886	NM_022047.4(DEF6):c.583C>T (p.Arg195Trp)	DEF6 (R195W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449938	NM_022047.4(DEF6):c.584G>A (p.Arg195Gln)	DEF6 (R195Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605371	NM_022047.4(DEF6):c.588C>A (p.Gly196=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531280	NM_022047.4(DEF6):c.588C>T (p.Gly196=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418049	NM_022047.4(DEF6):c.589G>A (p.Val197Met)	DEF6 (V197M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2041040	NM_022047.4(DEF6):c.593G>A (p.Gly198Asp)	DEF6 (G198D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511544	NM_022047.4(DEF6):c.596G>A (p.Arg199Gln)	DEF6 (R199Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816555	NM_022047.4(DEF6):c.597G>A (p.Arg199=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614086	NM_022047.4(DEF6):c.597G>C (p.Arg199=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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