ClinVar for Gene (Select 8517) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381371	NM_001099857.5(IKBKG):c.518+2T>G	IKBKG	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 3380764	NM_001099857.5(IKBKG):c.1144C>T (p.Pro382Ser)	IKBKG (P259S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378156	NM_001099857.5(IKBKG):c.529G>A (p.Ala177Thr)	IKBKG (A176T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3376313	NM_001099856.6(IKBKG):c.104G>C (p.Ser35Thr)	G6PD, IKBKG +1 more (S35T)	Single nucleotide variant (missense variant +2 more)	Incontinentia pigmenti syndrome	GUncertain significance
Select item 3370389	GRCh38/hg38 Xq28(chrX:154348522-154594454)x3	ATP6AP1, ATP6AP1-DT +53 more	Copy number gain	Intellectual disability, X-linked 41	GPathogenic
Select item 3370134	NM_001099857.5(IKBKG):c.851T>G (p.Leu284Arg)	IKBKG (L161R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368662	NM_001099857.5(IKBKG):c.191C>A (p.Ala64Asp)	IKBKG (A132D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3355640	NM_001099856.6(IKBKG):c.128G>C (p.Gly43Ala)	LOC108281126, G6PD +1 more (G43A)	Single nucleotide variant (missense variant +1 more)	IKBKG-related disorder	GUncertain significance
Select item 3343526	NM_001099857.5(IKBKG):c.619C>A (p.Gln207Lys)	IKBKG (Q206K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340352	NM_001099857.5(IKBKG):c.256C>T (p.Gln86Ter)	IKBKG (Q154* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3340317	NM_001099857.5(IKBKG):c.1238A>G (p.His413Arg)	IKBKG (H290R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339514	NM_001360016.2(G6PD):c.49C>T (p.Arg17Trp)	G6PD, IKBKG (R17W +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3252648	NM_001099857.5(IKBKG):c.854AGG[2] (p.Glu287del)	IKBKG (E164del +4 more)	Microsatellite (inframe_deletion +3 more)	not provided	GUncertain significance
Select item 3250643	NM_001360016.2(G6PD):c.-43C>T	G6PD, IKBKG +2 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3244008	NC_000023.10:g.(?_153592370)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242266	NM_001099857.5(IKBKG):c.373del (p.Val125fs)	IKBKG (V125fs +1 more)	Deletion (frameshift variant +1 more)	Incontinentia pigmenti syndrome	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3109022	NM_001099857.5(IKBKG):c.187+1G>A	IKBKG	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 3109021	NM_001099857.5(IKBKG):c.1139C>G (p.Ala380Gly)	IKBKG (A328G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075739	NM_001360016.2(G6PD):c.-32G>T	G6PD, IKBKG +2 more (G20V)	Single nucleotide variant (missense variant +2 more)	Malaria, susceptibility to +1 more	GUncertain significance
Select item 3062499	GRCh37/hg19 Xq28(chrX:153714300-153868484)	CTAG1A, CTAG1B +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3043617	NM_001360016.2(G6PD):c.-14G>A	G6PD, IKBKG +2 more (S26N)	Single nucleotide variant (missense variant +2 more)	G6PD-related disorder	GBenign
Select item 3038585	NM_001099857.5(IKBKG):c.7A>C (p.Arg3=)	IKBKG	Single nucleotide variant (synonymous variant +1 more)	IKBKG-related disorder	GBenign
Select item 3036272	NM_001360016.2(G6PD):c.-9+9C>A	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	G6PD-related disorder	GLikely benign
Select item 3029787	NM_001099857.5(IKBKG):c.60G>A (p.Pro20=)	IKBKG	Single nucleotide variant (synonymous variant +1 more)	IKBKG-related disorder	GLikely benign
Select item 3026816	NM_000402.4(G6PD):c.10C>G (p.Arg4Gly)	G6PD, IKBKG +2 more (R4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025953	NM_001360016.2(G6PD):c.97A>G (p.Ile33Val)	G6PD, IKBKG (I33V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3014677	NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)	G6PD, IKBKG (G14V +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2987800	NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)	G6PD, IKBKG (R39Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2963593	NM_001360016.2(G6PD):c.120+14A>T	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2915780	NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)	G6PD, IKBKG (A25T +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2885573	NM_001360016.2(G6PD):c.60T>C (p.Leu20=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2875918	NM_001360016.2(G6PD):c.120+13C>G	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2722002	NM_001360016.2(G6PD):c.84G>T (p.Gln28His)	G6PD, IKBKG (Q28H +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2691687	NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser)	G6PD, IKBKG (G38S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685779	GRCh37/hg19 Xq28(chrX:153606456-153828848)x2	ATP6AP1, CTAG1A +13 more	Copy number gain	not provided	GPathogenic
Select item 2685778	GRCh37/hg19 Xq28(chrX:153549167-153858492)x2	ATP6AP1, CTAG1A +16 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685026	GRCh37/hg19 Xq28(chrX:153792456-154110373)x3	CTAG1A, CTAG1B +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685025	GRCh37/hg19 Xq28(chrX:153613883-153862775)x3	CTAG1B, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 2663721	NM_001099857.5(IKBKG):c.1116del (p.Ala373fs)	IKBKG (A250fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2663454	NM_001099857.5(IKBKG):c.902T>C (p.Leu301Pro)	IKBKG (L178P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2661855	NM_001099857.5(IKBKG):c.121C>G (p.Leu41Val)	IKBKG (L109V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661854	NM_001099857.5(IKBKG):c.94C>T (p.Pro32Ser)	IKBKG (P100S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661853	NM_001099857.5(IKBKG):c.84C>T (p.Gly28=)	IKBKG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631994	NM_001099857.5(IKBKG):c.9G>C (p.Arg3Ser)	IKBKG (R3S +1 more)	Single nucleotide variant (missense variant +1 more)	IKBKG-related disorder	GUncertain significance
Select item 2628726	NM_001360016.2(G6PD):c.-17G>T	G6PD, IKBKG +2 more (R25L)	Single nucleotide variant (missense variant +2 more)	G6PD-related disorder	GUncertain significance
Select item 2579743	NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)	IKBKG (L122fs +1 more)	Deletion (frameshift variant +1 more)	Incontinentia pigmenti syndrome	GLikely pathogenic
Select item 2579309	NM_001099857.5(IKBKG):c.671+3G>C	IKBKG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2572728	NM_001099857.5(IKBKG):c.988C>T (p.Gln330Ter)	IKBKG (Q207* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505650	NM_001099857.5(IKBKG):c.268_270del (p.Lys90del)	IKBKG (K158del +1 more)	Deletion (inframe_deletion +2 more)	not provided	GLikely pathogenic
Select item 2503249	NM_001099857.5(IKBKG):c.995A>C (p.Gln332Pro)	IKBKG (Q209P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2441600	NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)	G6PD, IKBKG (R17Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2431822	NM_001099857.5(IKBKG):c.51T>C (p.Ser17=)	IKBKG	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory disease, X-linked	GUncertain significance
Select item 2424174	NC_000023.10:g.(?_153585782)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2423564	NC_000023.10:g.(?_153762230)_(153775961_?)dup	G6PD, IKBKG	Duplication	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422368	NC_000023.10:g.(?_153640181)_(153775961_?)dup	G6PD, TAFAZZIN +10 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2417454	NM_001360016.2(G6PD):c.34G>A (p.Val12Met)	G6PD, IKBKG (V12M +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2404006	NM_001099857.5(IKBKG):c.1111G>C (p.Ala371Pro)	IKBKG (A248P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262342	NM_001360016.2(G6PD):c.68G>T (p.Gly23Val)	G6PD, IKBKG (G53V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238562	NM_001099856.6(IKBKG):c.105_106del (p.Ile36fs)	G6PD, IKBKG +1 more (I36fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226406	NM_001099857.5(IKBKG):c.85G>C (p.Glu29Gln)	IKBKG (E97Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2180347	NM_001360016.2(G6PD):c.87G>A (p.Ser29=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2175113	NM_001360016.2(G6PD):c.21G>A (p.Leu7=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2119965	NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)	G6PD, IKBKG (H27Y +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2118562	NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)	G6PD, IKBKG (D60N +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1806818	NM_001099857.5(IKBKG):c.636_659del (p.Leu213_Ala220del)	IKBKG	Deletion (inframe_deletion +2 more)	not provided	GLikely pathogenic
Select item 1722764	GRCh37/hg19 Xq28(chrX:153560562-153864851)x3	CTAG1A, CTAG1B +15 more	Copy number gain	Septo-optic dysplasia sequence	GLikely pathogenic
Select item 1722722	NM_001360016.2(G6PD):c.120+3126T>C	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1722713	NM_001360016.2(G6PD):c.120+2955A>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1722692	NM_001360016.2(G6PD):c.94C>G (p.His32Asp)	G6PD, IKBKG (H32D +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722690	NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)	G6PD, IKBKG (R39W +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722687	NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)	G6PD, IKBKG (V12L +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722683	NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)	G6PD, IKBKG (E33K +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722674	NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)	G6PD, IKBKG +2 more (R3W)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722654	NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)	G6PD, IKBKG (I36T +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722649	NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)	G6PD, IKBKG (Q11* +1 more)	Single nucleotide variant (nonsense +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1722643	NM_001042351.3(G6PD):c.-9+2T>G	LOC107181288, G6PD +1 more	Single nucleotide variant (splice donor variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1720330	NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)	G6PD, IKBKG (A25S +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1717047	NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)	G6PD, IKBKG (F26S +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1712019	NM_001099857.5(IKBKG):c.589G>A (p.Val197Met)	IKBKG (V196M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic

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