ClinVar for Gene (Select 2539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384145	NM_001360016.2(G6PD):c.520_522del (p.Gly174del)	G6PD (G174del +1 more)	Deletion	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3380763	NM_001360016.2(G6PD):c.373A>G (p.Met125Val)	G6PD (M125V +1 more)	Single nucleotide variant (missense variant)	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 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3362592	NM_001360016.2(G6PD):c.1195del (p.Ala399fs)	G6PD (A399fs +1 more)	Deletion (frameshift variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
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 3339519	NM_001360016.2(G6PD):c.751G>A (p.Asp251Asn)	G6PD (D251N +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 3339518	NM_001360016.2(G6PD):c.430C>G (p.Pro144Ala)	G6PD (P144A +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3339517	NM_001360016.2(G6PD):c.551C>G (p.Ser184Cys)	G6PD (S184C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 3339516	NM_001360016.2(G6PD):c.354C>G (p.Tyr118Ter)	G6PD (Y118* +1 more)	Single nucleotide variant (nonsense)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 3339515	NM_001360016.2(G6PD):c.173A>G (p.Asp58Gly)	G6PD (D58G +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	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 3339513	NM_001360016.2(G6PD):c.1438A>T (p.Ile480Phe)	G6PD (I480F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3339512	NM_001360016.2(G6PD):c.1316G>A (p.Arg439His)	G6PD (R439H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 3339511	NM_001360016.2(G6PD):c.1312G>A (p.Glu438Lys)	G6PD (E438K +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 3339510	NM_001360016.2(G6PD):c.982G>A (p.Val328Met)	G6PD (V328M +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3339509	NM_001360016.2(G6PD):c.962G>T (p.Gly321Val)	G6PD (G321V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3339508	NM_001360016.2(G6PD):c.946G>A (p.Gly316Ser)	G6PD (G316S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3339507	NM_001360016.2(G6PD):c.691G>A (p.Ala231Thr)	G6PD (A231T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 3339211	NM_000402.4:c.[292G>A;466A>G]	G6PD	Indel	G6PD deficiency	GPathogenic
Select item 3280335	NM_001360016.2(G6PD):c.550T>A (p.Ser184Thr)	G6PD (S184T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280334	NM_001360016.2(G6PD):c.1537C>A (p.His513Asn)	G6PD (H513N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252614	NM_001360016.2(G6PD):c.551C>A (p.Ser184Tyr)	G6PD (S184Y +1 more)	Single nucleotide variant (missense variant)	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 3250471	NM_001360016.2(G6PD):c.1090G>A (p.Glu364Lys)	G6PD (E364K +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
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 3241644	NM_001360016.2(G6PD):c.735_741del (p.Arg246fs)	G6PD (R246fs +1 more)	Deletion (frameshift variant)	Malaria, susceptibility to	GLikely pathogenic
Select item 3239374	NM_001360016.2(G6PD):c.1273G>A (p.Gly425Ser)	G6PD (G425S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3047764	NM_001360016.2(G6PD):c.546G>A (p.Arg182=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD-related disorder	GLikely benign
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 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 3032932	NM_001360016.2(G6PD):c.981G>A (p.Thr327=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD-related disorder	GLikely benign
Select item 3032490	NM_001360016.2(G6PD):c.864+40G>A	G6PD	Single nucleotide variant (intron variant)	G6PD-related disorder	GLikely benign
Select item 3026816	NM_000402.4(G6PD):c.10C>G (p.Arg4Gly)	LOC107181288, LOC129929052 +2 more (R4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026503	NC_000023.11:g.154518193C>T	G6PD	Single nucleotide variant	not provided	GLikely benign
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 3023523	NM_001360016.2(G6PD):c.558C>T (p.His186=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3023473	NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3023112	NM_001360016.2(G6PD):c.644+19C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3020865	NM_001360016.2(G6PD):c.501C>T (p.Ile167=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3020030	NM_001360016.2(G6PD):c.1457+17G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3018933	NM_001360016.2(G6PD):c.486-10C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 3017504	NM_001360016.2(G6PD):c.585G>A (p.Gln195=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3015849	NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3014863	NM_001360016.2(G6PD):c.505G>A (p.Val169Met)	G6PD (V169M +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 3014723	NM_001360016.2(G6PD):c.418C>T (p.Leu140=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
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 3014338	NM_001360016.2(G6PD):c.687C>T (p.Asn229=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3013857	NM_001360016.2(G6PD):c.645-3C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 3010618	NM_001360016.2(G6PD):c.865-18C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3008471	NM_001360016.2(G6PD):c.771-13C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3007203	NM_001360016.2(G6PD):c.407G>A (p.Arg136His)	G6PD (R136H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 3005897	NM_001360016.2(G6PD):c.159-11C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3005395	NM_001360016.2(G6PD):c.644+7C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3000631	NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)	G6PD (V499E +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2993935	NM_001360016.2(G6PD):c.1457+9A>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2992328	NM_001360016.2(G6PD):c.1457+37_1458-10dup	G6PD	Duplication (intron variant)	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 2983728	NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)	G6PD (E123K +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2983067	NM_001360016.2(G6PD):c.1457+11G>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2980067	NM_001360016.2(G6PD):c.909G>A (p.Val303=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2973602	NM_001360016.2(G6PD):c.1287+7T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
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 2963246	NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2960738	NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2959826	NM_001360016.2(G6PD):c.864+13C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2920947	NM_001360016.2(G6PD):c.833CCA[1] (p.Thr279del)	G6PD (T279del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2920155	NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)	G6PD (N135T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2919869	NM_001360016.2(G6PD):c.158+16C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2918270	NM_001360016.2(G6PD):c.485+14T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2916808	NM_001360016.2(G6PD):c.1457+14G>T	G6PD	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 2914991	NM_001360016.2(G6PD):c.1457+12G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2914237	NM_001360016.2(G6PD):c.1365-8C>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2913047	NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2902227	NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)	G6PD (A146P +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2901945	NM_001360016.2(G6PD):c.1458-7T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2897577	NM_001360016.2(G6PD):c.345A>G (p.Ala115=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2897576	NM_001360016.2(G6PD):c.939T>C (p.Asp313=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2896865	NM_001360016.2(G6PD):c.510G>A (p.Glu170=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2895885	NM_001360016.2(G6PD):c.849C>T (p.Asp283=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2893648	NM_001360016.2(G6PD):c.268-6T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2893324	NM_001360016.2(G6PD):c.1020C>T (p.Val340=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2892884	NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2891209	NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)	G6PD (Q449R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 2890754	NM_001360016.2(G6PD):c.165G>A (p.Leu55=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2890522	NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)	G6PD (Q111R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2889778	NM_001360016.2(G6PD):c.132C>G (p.Ala44=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2889501	NM_001360016.2(G6PD):c.485+3A>G	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2889145	NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign

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