58484[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 219064	Single allele	NLRC4, SLC30A6 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 153430	GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148380	GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3339407	NM_001199138.2(NLRC4):c.*13C>G	NLRC4	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2943426	NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr)	NLRC4 (A1024T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 945989	NM_001199138.2(NLRC4):c.3064G>C (p.Val1022Leu)	NLRC4 (V1022L +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 644477	NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)	NLRC4 (L1021Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 661891	NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly)	NLRC4 (A1018G +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 542041	NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr)	NLRC4 (A1018T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 581774	NM_001199138.2(NLRC4):c.3033T>G (p.Asp1011Glu)	NLRC4 (D1011E +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2938847	NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly)	NLRC4 (D1009G +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 1481766	NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr)	NLRC4 (D1009Y +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 2150533	NM_001199138.2(NLRC4):c.3004C>A (p.Leu1002Ile)	NLRC4 (L1002I +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1518231	NM_001199138.2(NLRC4):c.3004C>T (p.Leu1002Phe)	NLRC4 (L337F +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1662187	NM_001199138.2(NLRC4):c.2970G>A (p.Val990=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 580615	NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met)	NLRC4 (V990M +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 850124	NM_001199138.2(NLRC4):c.2959C>T (p.Leu987Phe)	NLRC4 (L322F +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1136389	NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)	NLRC4 (K321R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 652044	NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala)	NLRC4 (V319A +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3061059	NM_001199138.2(NLRC4):c.2949A>C (p.Leu983Phe)	NLRC4 (L318F +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder	GUncertain significance
Select item 2578849	NM_001199138.2(NLRC4):c.2945C>T (p.Ala982Val)	NLRC4 (A317V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 962216	NM_001199138.2(NLRC4):c.2945C>A (p.Ala982Glu)	NLRC4 (A317E +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 542046	NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly)	NLRC4 (A982G +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GLikely benign
Select item 2940112	NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val)	NLRC4 (D980V +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1478518	NM_001199138.2(NLRC4):c.2938G>C (p.Asp980His)	NLRC4 (D980H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 1460824	NM_001199138.2(NLRC4):c.2927A>G (p.Glu976Gly)	NLRC4 (E976G +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 656380	NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)	NLRC4 (K310N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1401795	NM_001199138.2(NLRC4):c.2924A>G (p.Lys975Arg)	NLRC4 (K975R +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694377	NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 2671746	NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu)	NLRC4 (F305L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4	GUncertain significance
Select item 2014200	NM_001199138.2(NLRC4):c.2908T>A (p.Phe970Ile)	NLRC4 (F305I +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1653384	NM_001199138.2(NLRC4):c.2904G>C (p.Val968=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2935456	NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser)	NLRC4 (L302S +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2927448	NM_001199138.2(NLRC4):c.2886G>A (p.Glu962=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 739147	NM_001199138.2(NLRC4):c.2883T>C (p.Phe961=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +2 more	GLikely benign
Select item 655469	NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser)	NLRC4 (F296S +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2038001	NM_001199138.2(NLRC4):c.2876G>A (p.Gly959Asp)	NLRC4 (G294D +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 971521	NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala)	NLRC4 (G294A +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 2182643	NM_001199138.2(NLRC4):c.2875G>A (p.Gly959Ser)	NLRC4 (G959S +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2020782	NM_001199138.2(NLRC4):c.2865T>G (p.Leu955=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 665407	NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg)	NLRC4 (W289R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 720273	NM_001199138.2(NLRC4):c.2847G>A (p.Val949=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3252911	NM_001199138.2(NLRC4):c.2846T>C (p.Val949Ala)	NLRC4 (V284A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424303	NM_001199138.2(NLRC4):c.2845G>C (p.Val949Leu)	NLRC4 (V284L +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 725417	NM_001199138.2(NLRC4):c.2844T>C (p.Arg948=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 581834	NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His)	NLRC4 (R948H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2937092	NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys)	NLRC4 (R283C +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1127367	NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 1413836	NM_001199138.2(NLRC4):c.2830T>G (p.Leu944Val)	NLRC4 (L279V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2937892	NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser)	NLRC4 (N278S +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 1694376	NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile)	NLRC4 (N278I +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2933087	NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe)	NLRC4 (L277F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 1470505	NM_001199138.2(NLRC4):c.2822A>G (p.Gln941Arg)	NLRC4 (Q941R +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 836853	NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter)	NLRC4 (Q940* +1 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 1962565	NM_001199138.2(NLRC4):c.2804C>T (p.Pro935Leu)	NLRC4 (P270L +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1506842	NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys)	NLRC4 (N934K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1105838	NM_001199138.2(NLRC4):c.2802C>T (p.Asn934=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 1302964	NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs)	NLRC4 (G267fs +1 more)	Duplication (frameshift variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 1722008	NM_001199138.2(NLRC4):c.2789T>A (p.Phe930Tyr)	NLRC4 (F265Y +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 475254	NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)	NLRC4 (A929S +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GBenign
Select item 2954524	NM_001199138.2(NLRC4):c.2783-13T>A	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 1266438	NM_001199138.2(NLRC4):c.2783-40_2783-37del	NLRC4	Deletion (intron variant)	not provided	GBenign
Select item 1234094	NM_001199138.2(NLRC4):c.2783-41_2783-38del	NLRC4	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1228698	NM_001199138.2(NLRC4):c.2783-42_2783-38del	NLRC4	Deletion (intron variant)	not provided	GBenign
Select item 1267762	NM_001199138.2(NLRC4):c.2783-54_2783-51dup	NLRC4	Duplication (intron variant)	not provided	GBenign
Select item 1265361	NM_001199138.2(NLRC4):c.2783-45A>T	NLRC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261557	NM_001199138.2(NLRC4):c.2783-48_2783-46dup	NLRC4	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1266457	NM_001199138.2(NLRC4):c.2782+122T>C	NLRC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 103081	NM_001199138.2(NLRC4):c.2782+102T>C	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103083	NM_001199138.2(NLRC4):c.2782+81C>T	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103082	NM_001199138.2(NLRC4):c.2782+38G>C	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1922875	NM_001199138.2(NLRC4):c.2782+19A>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2938220	NM_001199138.2(NLRC4):c.2782+18G>A	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2414988	NM_001199138.2(NLRC4):c.2782+18G>T	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2932044	NM_001199138.2(NLRC4):c.2782+9A>T	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2933149	NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2938805	NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs)	NLRC4 (T257fs +1 more)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 624132	NM_001199138.2(NLRC4):c.2759_2760del (p.Thr920fs)	NLRC4 (T255fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2949369	NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His)	NLRC4 (L254H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 849859	NM_001199138.2(NLRC4):c.2751G>T (p.Trp917Cys)	NLRC4 (W252C +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 1437248	NM_001199138.2(NLRC4):c.2750G>A (p.Trp917Ter)	NLRC4 (W917* +1 more)	Single nucleotide variant (nonsense)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 403238	NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 1541146	NM_001199138.2(NLRC4):c.2739G>A (p.Gly913=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 640786	NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)	NLRC4 (V910I +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 542047	NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 1149990	NM_001199138.2(NLRC4):c.2721A>G (p.Pro907=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2318702	NM_001199138.2(NLRC4):c.2720C>T (p.Pro907Leu)	NLRC4 (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694375	NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)	NLRC4 (V241I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1945582	NM_001199138.2(NLRC4):c.2715G>A (p.Glu905=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2323440	NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly)	NLRC4 (E240G +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1477290	NM_001199138.2(NLRC4):c.2713del (p.Glu905fs)	NLRC4 (E240fs +1 more)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 664043	NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys)	NLRC4 (E905K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 1899951	NM_001199138.2(NLRC4):c.2700G>A (p.Leu900=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2129929	NM_001199138.2(NLRC4):c.2691C>T (p.Ser897=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2933660	NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign

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