3658[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 1974073	NM_004136.4(IREB2):c.10C>T (p.Pro4Ser)	IREB2 (P4S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3021263	NM_004136.4(IREB2):c.20-4dup	IREB2	Duplication (intron variant)	not provided	GBenign
Select item 2959445	NM_004136.4(IREB2):c.20-4del	IREB2	Deletion (intron variant)	not provided	GBenign
Select item 3017176	NM_004136.4(IREB2):c.20-4T>C	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645610	NM_004136.4(IREB2):c.24C>T (p.Tyr8=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2018148	NM_004136.4(IREB2):c.40A>G (p.Ile14Val)	IREB2 (I14V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2051030	NM_004136.4(IREB2):c.78C>T (p.Phe26=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2287439	NM_004136.4(IREB2):c.86C>T (p.Ser29Phe)	IREB2 (S29F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1914961	NM_004136.4(IREB2):c.106+16A>G	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903306	NM_004136.4(IREB2):c.106+19T>A	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3064391	NM_004136.4(IREB2):c.128G>A (p.Arg43Gln)	IREB2 (R43Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	GUncertain significance
Select item 2192765	NM_004136.4(IREB2):c.158G>A (p.Cys53Tyr)	IREB2 (C53Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2013430	NM_004136.4(IREB2):c.215A>G (p.Lys72Arg)	IREB2 (K15R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2271650	NM_004136.4(IREB2):c.220A>G (p.Ser74Gly)	IREB2 (S17G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3009467	NM_004136.4(IREB2):c.225T>C (p.Asn75=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2011951	NM_004136.4(IREB2):c.273-11T>A	IREB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2057113	NM_004136.4(IREB2):c.304A>G (p.Met102Val)	IREB2 (M102V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2267855	NM_004136.4(IREB2):c.313G>A (p.Ala105Thr)	IREB2 (A48T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2119317	NM_004136.4(IREB2):c.314C>T (p.Ala105Val)	IREB2 (A105V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2719837	NM_004136.4(IREB2):c.321A>G (p.Lys107=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2254168	NM_004136.4(IREB2):c.343A>G (p.Lys115Glu)	IREB2 (K58E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2768394	NM_004136.4(IREB2):c.375A>G (p.Thr125=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3286503	NM_004136.4(IREB2):c.383A>T (p.His128Leu)	IREB2 (H128L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1952283	NM_004136.4(IREB2):c.410+12C>A	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964174	NM_004136.4(IREB2):c.465G>T (p.Lys155Asn)	IREB2 (K98N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2123506	NM_004136.4(IREB2):c.475= (p.Leu159=)	IREB2	Variation (no sequence alteration)	not provided	GBenign
Select item 2038993	NM_004136.4(IREB2):c.475C>G (p.Leu159Val)	IREB2 (L102V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2092142	NM_004136.4(IREB2):c.496C>A (p.Leu166Ile)	IREB2 (L166I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2102958	NM_004136.4(IREB2):c.509G>A (p.Gly170Asp)	IREB2 (G170D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2849355	NM_004136.4(IREB2):c.516T>C (p.Thr172=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2064537	NM_004136.4(IREB2):c.526G>A (p.Gly176Arg)	IREB2 (G119R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2109773	NM_004136.4(IREB2):c.546A>G (p.Glu182=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1899710	NM_004136.4(IREB2):c.551G>A (p.Gly184Asp)	IREB2 (G127D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2968513	NM_004136.4(IREB2):c.554G>A (p.Arg185Gln)	IREB2 (R128Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2105428	NM_004136.4(IREB2):c.562_563delinsTT (p.Gly188Leu)	IREB2 (G131L +1 more)	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2975070	NM_004136.4(IREB2):c.576G>A (p.Ser192=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2238491	NM_004136.4(IREB2):c.593C>T (p.Pro198Leu)	IREB2 (P141L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552041	NM_004136.4(IREB2):c.608T>C (p.Phe203Ser)	IREB2 (F146S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2123507	NM_004136.4(IREB2):c.613T>C (p.Leu205=)	IREB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 781312	NM_004136.4(IREB2):c.629+7G>T	IREB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300039	NM_004136.4(IREB2):c.629+22A>C	IREB2	Single nucleotide variant (intron variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign
Select item 1899665	NM_004136.4(IREB2):c.630-17G>A	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427850	NM_004136.4(IREB2):c.637A>G (p.Thr213Ala)	IREB2 (T156A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2400855	NM_004136.4(IREB2):c.645A>T (p.Leu215Phe)	IREB2 (L215F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053124	NM_004136.4(IREB2):c.656A>C (p.Glu219Ala)	IREB2 (E219A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2456255	NM_004136.4(IREB2):c.667G>A (p.Gly223Ser)	IREB2 (G166S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2010118	NM_004136.4(IREB2):c.699+6A>G	IREB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2187673	NM_004136.4(IREB2):c.723T>G (p.Asn241Lys)	IREB2 (N184K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077748	NM_004136.4(IREB2):c.733A>G (p.Ile245Val)	IREB2 (I188V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1049630	NM_004136.4(IREB2):c.733A>T (p.Ile245Phe)	IREB2 (I188F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1920794	NM_004136.4(IREB2):c.783A>G (p.Ser261=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692664	NM_004136.4(IREB2):c.784A>C (p.Arg262=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779903	NM_004136.4(IREB2):c.804A>G (p.Lys268=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2084675	NM_004136.4(IREB2):c.816C>G (p.Phe272Leu)	IREB2 (F215L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645611	NM_004136.4(IREB2):c.822C>T (p.Asp274=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3068104	NM_004136.4(IREB2):c.824G>A (p.Ser275Asn)	IREB2 (S218N +2 more)	Single nucleotide variant (missense variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	GUncertain significance
Select item 2796036	NM_004136.4(IREB2):c.879G>A (p.Gly293=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300040	NM_004136.4(IREB2):c.883+19A>G	IREB2	Single nucleotide variant (intron variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign
Select item 2419091	NM_004136.4(IREB2):c.884-6C>T	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716262	NM_004136.4(IREB2):c.884-5G>A	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813944	NM_004136.4(IREB2):c.922C>T (p.Leu308=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545086	NM_004136.4(IREB2):c.947A>G (p.Glu316Gly)	IREB2 (E316G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311761	NM_004136.4(IREB2):c.963G>C (p.Glu321Asp)	IREB2 (E71D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286496	NM_004136.4(IREB2):c.971G>A (p.Gly324Glu)	IREB2 (G267E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2723877	NM_004136.4(IREB2):c.975A>G (p.Ser325=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922430	NM_004136.4(IREB2):c.981C>T (p.Asn327=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143548	NM_004136.4(IREB2):c.996C>T (p.Ser332=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992854	NM_004136.4(IREB2):c.1023+8A>G	IREB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2431116	NM_004136.4(IREB2):c.1023+1037G>A	IREB2	Single nucleotide variant (3 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431080	NM_004136.4(IREB2):c.1024-1244T>A	IREB2	Single nucleotide variant (3 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 1965989	NM_004136.4(IREB2):c.1024-7TA[2]	IREB2	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1956888	NM_004136.4(IREB2):c.1032G>A (p.Arg344=)	IREB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2590670	NM_004136.4(IREB2):c.1040G>A (p.Gly347Glu)	IREB2 (G290E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 633461	NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter)	IREB2 (G357* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	GLikely pathogenic
Select item 2215687	NM_004136.4(IREB2):c.1093A>G (p.Ile365Val)	IREB2 (I308V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1901518	NM_004136.4(IREB2):c.1111A>G (p.Ile371Val)	IREB2 (I371V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967753	NM_004136.4(IREB2):c.1120_1121del (p.Met374fs)	IREB2 (M124fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2543844	NM_004136.4(IREB2):c.1121T>C (p.Met374Thr)	IREB2 (M124T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1943856	NM_004136.4(IREB2):c.1127C>T (p.Pro376Leu)	IREB2 (P126L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2322228	NM_004136.4(IREB2):c.1193C>A (p.Thr398Lys)	IREB2 (T341K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1915675	NM_004136.4(IREB2):c.1196-8C>T	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059391	NM_004136.4(IREB2):c.1196-7G>A	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049344	NM_004136.4(IREB2):c.1215C>T (p.Leu405=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3286495	NM_004136.4(IREB2):c.1216G>A (p.Glu406Lys)	IREB2 (E349K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2067734	NM_004136.4(IREB2):c.1222A>G (p.Met408Val)	IREB2 (M408V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2723723	NM_004136.4(IREB2):c.1230A>G (p.Thr410=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181184	NM_004136.4(IREB2):c.1231T>C (p.Tyr411His)	IREB2 (Y161H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109496	NM_004136.4(IREB2):c.1251G>T (p.Leu417Phe)	IREB2 (L167F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952049	NM_004136.4(IREB2):c.1255C>A (p.Arg419=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 633460	NM_004136.4(IREB2):c.1255C>T (p.Arg419Ter)	IREB2 (R419* +2 more)	Single nucleotide variant (nonsense)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	GLikely pathogenic
Select item 1912635	NM_004136.4(IREB2):c.1273T>G (p.Ser425Ala)	IREB2 (S425A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192497	NM_004136.4(IREB2):c.1275A>C (p.Ser425=)	IREB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983305	NM_004136.4(IREB2):c.1297-14T>C	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020248	NM_004136.4(IREB2):c.1297-12C>G	IREB2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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