ClinVar for Gene (Select 7813) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	GFI1, EPHX4 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 3090853	NM_001350197.2(EVI5):c.737G>T (p.Cys246Phe)	EVI5 (C246F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090852	NM_001350197.2(EVI5):c.583C>T (p.Arg195Cys)	EVI5 (R239C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090851	NM_001350197.2(EVI5):c.572C>G (p.Ser191Cys)	EVI5 (S232C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090850	NM_001350197.2(EVI5):c.-70C>G	EVI5 (D21E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090849	NM_001350197.2(EVI5):c.425A>G (p.Asp142Gly)	EVI5 (D142G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090848	NM_001350197.2(EVI5):c.131A>G (p.Lys44Arg)	EVI5 (K85R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090847	NM_001350197.2(EVI5):c.1949G>A (p.Arg650His)	EVI5 (R645H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090846	NM_001350197.2(EVI5):c.1928C>G (p.Thr643Ser)	EVI5 (T627S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090845	NM_001350197.2(EVI5):c.1859C>T (p.Ala620Val)	EVI5 (A604V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090844	NM_001350197.2(EVI5):c.1698G>C (p.Trp566Cys)	EVI5 (W517C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090843	NM_001350197.2(EVI5):c.1695A>C (p.Arg565Ser)	EVI5 (R592S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090842	NM_001350197.2(EVI5):c.1669C>T (p.Arg557Cys)	EVI5 (R541C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090841	NM_001350197.2(EVI5):c.1046A>G (p.Lys349Arg)	EVI5 (K390R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600605	NM_001350197.2(EVI5):c.1736A>G (p.Gln579Arg)	EVI5 (Q530R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555394	NM_001350197.2(EVI5):c.464A>G (p.Glu155Gly)	EVI5 (E155G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551173	NM_001350197.2(EVI5):c.2227A>G (p.Ile743Val)	EVI5 (I697V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547845	NM_001350197.2(EVI5):c.746A>G (p.Gln249Arg)	EVI5 (Q249R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524609	NM_001350197.2(EVI5):c.1006C>G (p.Gln336Glu)	EVI5 (Q363E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512857	NM_001350197.2(EVI5):c.2150C>T (p.Ala717Val)	EVI5 (A717V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511623	NM_001350197.2(EVI5):c.1784A>G (p.Glu595Gly)	EVI5 (E587G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494611	NM_001350197.2(EVI5):c.929G>T (p.Arg310Leu)	EVI5 (R310L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493922	NM_001350197.2(EVI5):c.638A>G (p.Gln213Arg)	EVI5 (Q240R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479712	NM_005665.6(EVI5):c.12C>G (p.Asn4Lys)	EVI5 (N4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478575	NM_001350197.2(EVI5):c.1720G>A (p.Ala574Thr)	EVI5 (A560T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459804	NM_001350197.2(EVI5):c.2090A>C (p.Gln697Pro)	EVI5 (Q689P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458347	NM_001350197.2(EVI5):c.1853G>A (p.Arg618Gln)	EVI5 (R610Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425332	NC_000001.10:g.(?_92941586)_(93307422_?)del	DIPK1A, EVI5 +3 more	Deletion	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2411734	NM_001350197.2(EVI5):c.1682G>C (p.Arg561Pro)	EVI5 (R545P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409393	NM_001350197.2(EVI5):c.1757G>A (p.Arg586Gln)	EVI5 (R572Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401346	NM_001350197.2(EVI5):c.1610C>T (p.Ala537Val)	EVI5 (A488V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400599	NM_001350197.2(EVI5):c.2329G>A (p.Gly777Arg)	EVI5 (G769R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387475	NM_001350197.2(EVI5):c.860C>T (p.Thr287Ile)	EVI5 (T287I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378769	NM_001350197.2(EVI5):c.1681C>T (p.Arg561Cys)	EVI5 (R512C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344261	NM_001350197.2(EVI5):c.2291A>G (p.Asn764Ser)	EVI5 (N748S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336574	NM_001350197.2(EVI5):c.403G>A (p.Ala135Thr)	EVI5 (A179T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314606	NM_001350197.2(EVI5):c.1828A>G (p.Asn610Asp)	EVI5 (N637D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311677	NM_001350197.2(EVI5):c.2396G>A (p.Ser799Asn)	EVI5 (S750N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303230	NM_001350197.2(EVI5):c.653A>C (p.Glu218Ala)	EVI5 (E218A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295850	NM_001350197.2(EVI5):c.863T>C (p.Phe288Ser)	EVI5 (F332S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290017	NM_001350197.2(EVI5):c.167G>A (p.Ser56Asn)	EVI5 (S56N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268113	NM_001350197.2(EVI5):c.1551G>T (p.Glu517Asp)	EVI5 (E501D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261717	NM_005665.6(EVI5):c.11A>T (p.Asn4Ile)	EVI5 (N4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254504	NM_001350197.2(EVI5):c.44C>T (p.Thr15Ile)	EVI5 (T59I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249659	NM_001350197.2(EVI5):c.2174G>A (p.Cys725Tyr)	EVI5 (C676Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248698	NM_001350197.2(EVI5):c.2378A>T (p.Glu793Val)	EVI5 (E793V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245172	NM_001350197.2(EVI5):c.822G>T (p.Met274Ile)	EVI5 (M315I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241432	NM_005665.6(EVI5):c.12C>A (p.Asn4Lys)	EVI5 (N4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213078	NM_001350197.2(EVI5):c.1127C>T (p.Thr376Met)	EVI5 (T376M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527159	GRCh37/hg19 1p22.1(chr1:92626657-93345442)	C1orf146, DIPK1A +6 more	Copy number loss	not specified	GPathogenic
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	GPathogenic
Select item 775568	NM_001350197.2(EVI5):c.1872G>A (p.Val624=)	EVI5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772683	NM_001350197.2(EVI5):c.896T>C (p.Ile299Thr)	EVI5 (I299T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736443	NM_001350197.2(EVI5):c.2415G>A (p.Glu805=)	EVI5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 522834	NM_001350197.2(EVI5):c.1192C>T (p.Arg398Cys)	EVI5 (R442C +3 more)	Single nucleotide variant (missense variant)	EVI5-related disorder	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 402839	NM_001350197.2(EVI5):c.874A>G (p.Ile292Val)	EVI5 (I336V +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 402838	NM_001350197.2(EVI5):c.1737A>G (p.Gln579=)	EVI5	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 402837	NM_001350197.2(EVI5):c.1884G>T (p.Gln628His)	EVI5 (Q612H +6 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 402836	NM_001350197.2(EVI5):c.2340T>C (p.Gly780=)	EVI5	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 394860	GRCh37/hg19 1p22.1(chr1:92994584-93205598)x3	EVI5	Copy number gain	See cases	GUncertain significance
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 66