ClinVar for Gene (Select 2187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363899	NM_001018113.3(FANCB):c.1103C>G (p.Ser368Trp)	FANCB (S368W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350226	NM_002063.4(GLRA2):c.965C>T (p.Ala322Val)	FANCB, GLRA2 (A233V +1 more)	Single nucleotide variant (missense variant)	GLRA2-related disorder	GUncertain significance
Select item 3281628	NM_002063.4(GLRA2):c.1010C>T (p.Ala337Val)	FANCB, GLRA2 (A337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3281627	NM_002063.4(GLRA2):c.1091T>A (p.Val364Asp)	FANCB, GLRA2 (V364D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277608	NM_001018113.3(FANCB):c.190T>C (p.Phe64Leu)	FANCB (F64L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243682	NC_000023.10:g.(?_14861689)_(14883702_?)dup	FANCB	Duplication	Fanconi anemia	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242020	NM_002063.4(GLRA2):c.1108T>C (p.Phe370Leu)	FANCB, GLRA2 (F281L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GUncertain significance
Select item 3241555	NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)	FANCB (Q524*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group B	GLikely pathogenic
Select item 3100326	NM_002063.4(GLRA2):c.1162G>C (p.Ala388Pro)	FANCB, GLRA2 (A299P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092787	NM_001018113.3(FANCB):c.2221A>C (p.Asn741His)	FANCB (N741H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067472	NM_001410764.1(FANCB):c.2692T>C (p.Leu898=)	FANCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067458	NM_001410764.1(FANCB):c.2616C>T (p.Cys872=)	FANCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062507	GRCh37/hg19 Xp22.2(chrX:13948313-16844723)	ACE2, AP1S2 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3054739	NM_002063.4(GLRA2):c.931-18TC[10]	FANCB, GLRA2	Microsatellite (intron variant)	GLRA2-related disorder	GLikely benign
Select item 3051531	NM_002063.4(GLRA2):c.1128G>A (p.Gly376=)	FANCB, GLRA2	Single nucleotide variant (synonymous variant)	GLRA2-related disorder	GLikely benign
Select item 3047336	NM_002063.4(GLRA2):c.1074G>A (p.Gln358=)	FANCB, GLRA2	Single nucleotide variant (synonymous variant)	GLRA2-related disorder	GLikely benign
Select item 3046679	NM_002063.4(GLRA2):c.1172C>T (p.Ala391Val)	FANCB, GLRA2 (A302V +1 more)	Single nucleotide variant (missense variant)	GLRA2-related disorder	GLikely benign
Select item 3040570	NM_001018113.3(FANCB):c.285G>A (p.Val95=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	FANCB-related disorder	GLikely benign
Select item 3022737	NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)	FANCB (T505S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3019850	NM_001018113.3(FANCB):c.951+19T>C	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3019753	NM_001018113.3(FANCB):c.417C>A (p.Gly139=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019132	NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3018433	NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)	FANCB (K829E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017528	NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)	FANCB (R736G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3015961	NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3014176	NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)	FANCB (V457I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3013504	NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3013460	NM_001018113.3(FANCB):c.1104+10A>G	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3009003	NM_001018113.3(FANCB):c.408C>T (p.Val136=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3007967	NM_001018113.3(FANCB):c.735T>C (p.Thr245=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3007441	NM_001018113.3(FANCB):c.372T>C (p.Phe124=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3006870	NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)	FANCB (H644Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3005279	NM_001018113.3(FANCB):c.1497-12G>T	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3002930	NM_001018113.3(FANCB):c.1327-17T>G	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3002113	NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2999159	NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)	FANCB (F405L)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 2996006	NM_001018113.3(FANCB):c.483T>C (p.Val161=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2994407	NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)	FANCB (N741I)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 2985344	NM_001018113.3(FANCB):c.876A>G (p.Ser292=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2980502	NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2978323	NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2975964	NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)	FANCB (R517G)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 2975039	NM_001018113.3(FANCB):c.720A>G (p.Val240=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2974595	NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)	FANCB (G335R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2974131	NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2973264	NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)	FANCB (D435G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2972588	NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2972399	NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)	FANCB (L587V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 2968891	NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2965205	NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GBenign
Select item 2960406	NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2919506	NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2918652	NM_001018113.3(FANCB):c.2166-15_2166-12del	FANCB	Microsatellite (intron variant)	Fanconi anemia	GLikely benign
Select item 2917352	NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2915878	NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2914650	NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)	FANCB (M759T)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 2911613	NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)	FANCB (A799T)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 2911531	NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2911521	NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)	FANCB (S465T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2910994	NM_001018113.3(FANCB):c.447A>G (p.Ala149=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2910682	NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)	FANCB (H458R)	Single nucleotide variant (missense variant)	Fanconi anemia	GBenign
Select item 2909969	NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2907964	NM_001018113.3(FANCB):c.2340T>C (p.His780=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2906181	NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2905952	NM_001018113.3(FANCB):c.1872A>C (p.Leu624=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2905146	NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)	FANCB (M130L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2904510	NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2903333	NM_001018113.3(FANCB):c.951+7C>T	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2902746	NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)	FANCB (I685M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2902357	NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)	FANCB (V300I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2901583	NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)	FANCB (S154Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2900045	NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2897784	NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)	FANCB (D647V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2895990	NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2891864	NM_001018113.3(FANCB):c.2165+12T>G	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2890966	NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2890211	NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)	FANCB (S164P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2889802	NM_001018113.3(FANCB):c.2165+6G>A	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2889224	NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)	FANCB (M823V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2885770	NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)	FANCB (Q26R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2884190	NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)	FANCB (C17R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2881885	NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)	FANCB (Y667S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2880410	NM_001018113.3(FANCB):c.952-16G>A	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2880229	NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2878672	NM_001018113.3(FANCB):c.273C>T (p.Leu91=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2878364	NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)	FANCB (S155P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2877076	NM_001018113.3(FANCB):c.1105-16T>A	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2867024	NM_001018113.3(FANCB):c.1725A>G (p.Val575=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2864210	NM_001018113.3(FANCB):c.702C>T (p.Ser234=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GBenign
Select item 2857687	NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)	FANCB (D204Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2856788	NM_001018113.3(FANCB):c.1326+18A>G	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2854604	NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2849249	NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)	FANCB (P586L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2844662	NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2844465	NM_001018113.3(FANCB):c.1104+20T>G	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2844393	NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)	FANCB (G698A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance

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