2244[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	See cases	GPathogenic
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 16388	NC_000004.12:g.154562556G>A	FGB	Single nucleotide variant	FIBRINOGEN-BETA POLYMORPHISM	GBenign
Select item 1290152	NC_000004.12:g.154562762C>T	FGB	Single nucleotide variant	not provided	GBenign
Select item 1233839	NC_000004.12:g.154562863C>T	FGB	Single nucleotide variant	not provided	GBenign
Select item 347766	NM_005141.5(FGB):c.-6_-5del	FGB	Deletion (5 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 347767	NM_005141.5(FGB):c.4A>G (p.Lys2Glu)	FGB (K2E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999873	NM_005141.5(FGB):c.10A>T (p.Met4Leu)	FGB (M4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613736	NM_005141.5(FGB):c.16T>C (p.Ser6Pro)	FGB (S6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2900011	NM_005141.5(FGB):c.67T>C (p.Leu23=)	FGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 901356	NM_005141.5(FGB):c.80T>C (p.Leu27Pro)	FGB (L27P)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 702688	NM_005141.5(FGB):c.84T>A (p.Val28=)	FGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288560	NM_005141.5(FGB):c.92A>G (p.Gln31Arg)	FGB (Q31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256869	NM_005141.5(FGB):c.100A>G (p.Asn34Asp)	FGB (N34D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 901357	NM_005141.5(FGB):c.103G>A (p.Asp35Asn)	FGB (D35N)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 2633944	NM_005141.5(FGB):c.114G>C (p.Glu38Asp)	FGB (E38D)	Single nucleotide variant (missense variant)	FGB-related disorder	GUncertain significance
Select item 347768	NM_005141.5(FGB):c.114+11del	FGB	Deletion (intron variant)	not specified +1 more	GUncertain significance
Select item 1285883	NM_005141.5(FGB):c.114+227G>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234634	NM_005141.5(FGB):c.115-579C>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256963	NM_005141.5(FGB):c.115-490T>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241440	NM_005141.5(FGB):c.115-314T>C	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2713439	NM_005141.5(FGB):c.115-17T>C	FGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 901358	NM_005141.5(FGB):c.115-12C>T	FGB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1982341	NM_005141.5(FGB):c.125G>C (p.Ser42Thr)	FGB (S42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16382	NM_005141.4(FGB):c.130C>T (p.Arg44Cys)	FGB (R44C)	Single nucleotide variant (missense variant)	Hypofibrinogenemia +2 more	GLikely pathogenic
Select item 2683306	NM_005141.5(FGB):c.134del (p.Gly45fs)	FGB (G45fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 16385	NM_005141.4(FGB):c.133G>T (p.Gly45Cys)	FGB (G45C)	Single nucleotide variant (missense variant)	FIBRINOGEN ISE	Gother
Select item 16396	NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	FGB (R47*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2139267	NM_005141.5(FGB):c.140G>A (p.Arg47Gln)	FGB (R47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3338995	NM_005141.5(FGB):c.155A>G (p.Lys52Arg)	FGB (K52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 901359	NM_005141.5(FGB):c.169C>T (p.Pro57Ser)	FGB (P57S)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 3029676	NM_005141.5(FGB):c.188del (p.Pro63fs)	FGB (P63fs)	Deletion (frameshift variant +1 more)	FGB-related disorder	GLikely pathogenic
Select item 2918490	NM_005141.5(FGB):c.191C>T (p.Pro64Leu)	FGB (P64L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 347769	NM_005141.5(FGB):c.200G>C (p.Ser67Thr)	FGB (S67T)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 901360	NM_005141.5(FGB):c.210C>T (p.Gly70=)	FGB	Single nucleotide variant (synonymous variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 700215	NM_005141.5(FGB):c.216G>A (p.Arg72=)	FGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 16386	NM_005141.4(FGB):c.220C>T (p.Arg74Cys)	FGB	Single nucleotide variant (missense variant +1 more)	FIBRINOGEN NIJMEGEN	Gother
Select item 3351774	NM_005141.5(FGB):c.221G>T (p.Arg74Leu)	FGB (R74L)	Single nucleotide variant (missense variant +1 more)	FGB-related disorder	GLikely pathogenic
Select item 2408990	NM_005141.5(FGB):c.244C>A (p.Gln82Lys)	FGB (Q82K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 347770	NM_005141.5(FGB):c.251A>C (p.Lys84Thr)	FGB (K84T)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 901957	NM_005141.5(FGB):c.254T>C (p.Val85Ala)	FGB (V85A)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 1698816	NM_005141.5(FGB):c.284G>A (p.Cys95Tyr)	FGB (C95Y)	Single nucleotide variant (missense variant +1 more)	Familial dysfibrinogenemia	GUncertain significance
Select item 347771	NM_005141.5(FGB):c.291C>T (p.His97=)	FGB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 16387	NM_005141.4(FGB):c.292G>A (p.Ala98Thr)	FGB (A98T)	Single nucleotide variant (missense variant +1 more)	FIBRINOGEN NAPLES	Gother
Select item 696149	NM_005141.5(FGB):c.298C>T (p.Pro100Ser)	FGB (P100S)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia +2 more	GConflicting classifications of pathogenicity
Select item 2637595	NM_005141.5(FGB):c.306+7_306+8delinsAA	FGB	Indel (intron variant)	not specified	GUncertain significance
Select item 3251927	NM_005141.5(FGB):c.306+10C>G	FGB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2917558	NM_005141.5(FGB):c.306+14T>C	FGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980460	NM_005141.5(FGB):c.306+15_306+16insAG	FGB	Insertion (intron variant)	not provided	GBenign
Select item 3069041	NM_005141.5(FGB):c.306+16delinsAGA	FGB	Indel (intron variant)	not specified	GLikely benign
Select item 1980480	NM_005141.5(FGB):c.306+16T>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281195	NM_005141.5(FGB):c.306+70G>C	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259647	NM_005141.5(FGB):c.307-16T>C	FGB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 347772	NM_005141.5(FGB):c.318T>C (p.Cys106=)	FGB	Single nucleotide variant (synonymous variant +1 more)	Congenital afibrinogenemia +1 more	GBenign
Select item 347773	NM_005141.5(FGB):c.332A>G (p.Gln111Arg)	FGB (Q111R)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 3278577	NM_005141.5(FGB):c.342G>A (p.Glu114=)	FGB	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 695914	NM_005141.5(FGB):c.367A>G (p.Ile123Val)	FGB (I123V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2058050	NM_005141.5(FGB):c.382G>A (p.Asp128Asn)	FGB (D69N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2572164	NM_005141.5(FGB):c.419C>A (p.Thr140Asn)	FGB (T140N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysfibrinogenemia	GUncertain significance
Select item 3058366	NM_005141.5(FGB):c.426T>G (p.Ser142=)	FGB	Single nucleotide variant (synonymous variant +1 more)	FGB-related disorder	GLikely benign
Select item 2628717	NM_005141.5(FGB):c.440A>C (p.Tyr147Ser)	FGB (Y103S +2 more)	Single nucleotide variant (missense variant)	FGB-related disorder	GUncertain significance
Select item 2713622	NM_005141.5(FGB):c.460C>T (p.Leu154=)	FGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339198	NM_005141.5(FGB):c.461T>C (p.Leu154Pro)	FGB (L110P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315159	NM_005141.5(FGB):c.478A>G (p.Lys160Glu)	FGB (K101E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627319	NM_005141.5(FGB):c.478A>C (p.Lys160Gln)	FGB (K160Q +2 more)	Single nucleotide variant (missense variant)	Abnormal bleeding	GUncertain significance
Select item 981156	NM_005141.5(FGB):c.490+1G>C	FGB	Single nucleotide variant (splice donor variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 1277691	NM_005141.5(FGB):c.490+160C>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228105	NM_005141.5(FGB):c.490+248A>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2691591	NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)	FGB	Deletion (inframe_deletion)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 1677258	NM_005141.5(FGB):c.506T>A (p.Val169Asp)	FGB (V110D +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901958	NM_005141.5(FGB):c.510T>A (p.Asn170Lys)	FGB (N170K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2765679	NM_005141.5(FGB):c.513G>A (p.Glu171=)	FGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627330	NM_005141.5(FGB):c.534G>C (p.Lys178Asn)	FGB (K178N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3343504	NM_005141.5(FGB):c.556A>T (p.Thr186Ser)	FGB (T127S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347774	NM_005141.5(FGB):c.564T>C (p.Asn188=)	FGB	Single nucleotide variant (synonymous variant)	Congenital afibrinogenemia	GUncertain significance
Select item 259648	NM_005141.5(FGB):c.567C>T (p.Ser189=)	FGB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3382074	NM_005141.5(FGB):c.569A>G (p.Asn190Ser)	FGB (N131S +2 more)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GUncertain significance
Select item 2306660	NM_005141.5(FGB):c.580A>C (p.Asn194His)	FGB (N194H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494539	NM_005141.5(FGB):c.581A>G (p.Asn194Ser)	FGB (N150S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16391	NM_005141.4(FGB):c.586C>T (p.Arg196Cys)	FGB (R196C +2 more)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GUncertain significance
Select item 2497909	NM_005141.5(FGB):c.595C>T (p.Arg199Cys)	FGB (R140C +2 more)	Single nucleotide variant (missense variant)	FGB-related disorder +1 more	GUncertain significance
Select item 16395	NM_005141.5(FGB):c.605T>A (p.Leu202Gln)	FGB (L202Q +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GPathogenic
Select item 1163448	NM_005141.5(FGB):c.656A>G (p.Gln219Arg)	FGB (Q160R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 902860	NM_005141.5(FGB):c.659T>C (p.Met220Thr)	FGB (M220T +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 2888252	NM_005141.5(FGB):c.670C>T (p.Arg224Cys)	FGB (R165C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747925	NM_005141.5(FGB):c.677C>G (p.Pro226Arg)	FGB (P182R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800648	NM_005141.5(FGB):c.679T>C (p.Cys227Arg)	FGB (C168R +2 more)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GPathogenic
Select item 695936	NM_005141.5(FGB):c.682A>G (p.Thr228Ala)	FGB (T228A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1687401	NM_005141.5(FGB):c.691T>C (p.Cys231Arg)	FGB (C172R +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1245158	NM_005141.5(FGB):c.718+113A>G	FGB	Single nucleotide variant (intron variant)	not provided	GBenign

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