EIF4G1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 147717	GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	ALG3, CAMK2N2 +24 more	Copy number gain	See cases	GBenign
Select item 1258758	NM_198241.3(EIF4G1):c.-35+13T>A	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225346	NM_198241.3(EIF4G1):c.-35+75A>T	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049318	NM_198241.3(EIF4G1):c.42A>C (p.Pro14=)	EIF4G1	Single nucleotide variant (synonymous variant +2 more)	EIF4G1-related disorder	GLikely benign
Select item 3088037	NM_198241.3(EIF4G1):c.64G>C (p.Ala22Pro)	EIF4G1 (A22P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088028	NM_198241.3(EIF4G1):c.104C>A (p.Thr35Lys)	EIF4G1 (T35K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1243147	NM_198241.3(EIF4G1):c.147+335del	EIF4G1	Deletion (intron variant)	not provided	GBenign
Select item 760817	NM_198241.3(EIF4G1):c.168C>T (p.Ala56=)	EIF4G1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2249054	NM_198241.3(EIF4G1):c.172C>T (p.Pro58Ser)	EIF4G1 (P65S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3032152	NM_198241.3(EIF4G1):c.176C>T (p.Pro59Leu)	EIF4G1 (P19L +2 more)	Single nucleotide variant (missense variant +2 more)	EIF4G1-related disorder	GUncertain significance
Select item 2482862	NM_198241.3(EIF4G1):c.254C>T (p.Ser85Phe)	EIF4G1 (S45F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265702	NM_198241.3(EIF4G1):c.319G>C (p.Gly107Arg)	EIF4G1 (G20R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1227934	NM_198241.3(EIF4G1):c.324+107T>A	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251295	NM_198241.3(EIF4G1):c.325-57G>A	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2238850	NM_198241.3(EIF4G1):c.347C>G (p.Pro116Arg)	EIF4G1 (P123R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1183465	NM_198241.3(EIF4G1):c.425-262GT[19]	EIF4G1	Microsatellite (intron variant)	not provided	GBenign
Select item 1244682	NM_198241.3(EIF4G1):c.425-224_425-205del	EIF4G1	Deletion (intron variant)	not provided	GBenign
Select item 1280193	NM_198241.3(EIF4G1):c.425-221_425-204del	EIF4G1	Microsatellite (intron variant)	not provided	GBenign
Select item 1283267	NM_198241.3(EIF4G1):c.425-222_425-207del	EIF4G1	Deletion (intron variant)	not provided	GBenign
Select item 2629995	NM_198241.3(EIF4G1):c.475G>T (p.Ala159Ser)	EIF4G1 (A119S +3 more)	Single nucleotide variant (missense variant +1 more)	EIF4G1-related disorder	GUncertain significance
Select item 1174883	NM_198241.3(EIF4G1):c.481A>G (p.Thr161Ala)	EIF4G1 (T121A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2603896	NM_198241.3(EIF4G1):c.495G>T (p.Met165Ile)	EIF4G1 (M125I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334462	NM_198241.3(EIF4G1):c.536C>T (p.Thr179Met)	EIF4G1 (T139M +4 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 1243000	NM_198241.3(EIF4G1):c.537+127T>G	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2306200	NM_198241.3(EIF4G1):c.676G>A (p.Val226Ile)	EIF4G1 (V139I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349241	NM_198241.3(EIF4G1):c.692G>C (p.Arg231Pro)	EIF4G1 (R144P +5 more)	Single nucleotide variant (missense variant)	EIF4G1-related disorder	GUncertain significance
Select item 1260000	NM_198241.3(EIF4G1):c.697+93A>T	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272665	NM_198241.3(EIF4G1):c.698-101C>T	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3088038	NM_198241.3(EIF4G1):c.733C>T (p.Pro245Ser)	EIF4G1 (P252S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061443	NM_198241.3(EIF4G1):c.734C>T (p.Pro245Leu)	EIF4G1 (P158L +5 more)	Single nucleotide variant (missense variant)	EIF4G1-related disorder	GUncertain significance
Select item 2355137	NM_198241.3(EIF4G1):c.791C>T (p.Pro264Leu)	EIF4G1 (P100L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1209871	NM_198241.3(EIF4G1):c.849C>G (p.Leu283=)	EIF4G1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1238081	NM_198241.3(EIF4G1):c.932A>G (p.Tyr311Cys)	EIF4G1 (Y115C +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268285	NM_198241.3(EIF4G1):c.934C>T (p.Arg312Cys)	EIF4G1 (R225C +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408701	NM_198241.3(EIF4G1):c.935G>A (p.Arg312His)	EIF4G1 (R148H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088039	NM_198241.3(EIF4G1):c.938T>C (p.Leu313Pro)	EIF4G1 (L313P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671643	NM_198241.3(EIF4G1):c.956C>G (p.Pro319Arg)	EIF4G1 (P123R +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 3034550	NM_198241.3(EIF4G1):c.960C>T (p.Leu320=)	EIF4G1	Single nucleotide variant (synonymous variant)	EIF4G1-related disorder	GLikely benign
Select item 3088040	NM_198241.3(EIF4G1):c.978A>C (p.Glu326Asp)	EIF4G1 (E239D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391920	NM_198241.3(EIF4G1):c.1001C>A (p.Pro334Gln)	EIF4G1 (P138Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2569320	NM_198241.3(EIF4G1):c.1015G>C (p.Glu339Gln)	EIF4G1 (E339Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044106	NM_198241.3(EIF4G1):c.1064C>T (p.Thr355Ile)	EIF4G1 (T159I +5 more)	Single nucleotide variant (missense variant)	EIF4G1-related disorder	GLikely benign
Select item 2208290	NM_198241.3(EIF4G1):c.1139T>C (p.Leu380Pro)	EIF4G1 (L184P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344891	NM_198241.3(EIF4G1):c.1151C>T (p.Pro384Leu)	EIF4G1 (P220L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405103	NM_198241.3(EIF4G1):c.1219G>A (p.Ala407Thr)	EIF4G1 (A211T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088029	NM_198241.3(EIF4G1):c.1279G>A (p.Glu427Lys)	EIF4G1 (E387K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 518344	NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val)	EIF4G1 (M432V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1209961	NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2])	EIF4G1	Microsatellite (inframe_deletion)	EIF4G1-related disorder +1 more	GBenign/Likely benign
Select item 1299790	NM_198241.3(EIF4G1):c.1471A>T (p.Ile491Phe)	EIF4G1 (I295F +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3345467	NM_198241.3(EIF4G1):c.1475C>T (p.Pro492Leu)	EIF4G1 (P296L +5 more)	Single nucleotide variant (missense variant)	EIF4G1-related disorder	GUncertain significance
Select item 2282728	NM_198241.3(EIF4G1):c.1478C>A (p.Ala493Asp)	EIF4G1 (A406D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30073	NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val)	EIF4G1 (A502V +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	Grisk factor
Select item 1257779	NM_198241.3(EIF4G1):c.1519+46C>G	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581015	NM_198241.3(EIF4G1):c.1570A>G (p.Lys524Glu)	EIF4G1 (K328E +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 2255757	NM_198241.3(EIF4G1):c.1591C>A (p.Leu531Met)	EIF4G1 (L531M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088030	NM_198241.3(EIF4G1):c.1609G>A (p.Ala537Thr)	EIF4G1 (A497T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088031	NM_198241.3(EIF4G1):c.1610C>T (p.Ala537Val)	EIF4G1 (A450V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1210091	NM_198241.3(EIF4G1):c.1648G>C (p.Ala550Pro)	EIF4G1 (A354P +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3234964	NM_198241.3(EIF4G1):c.1657A>G (p.Asn553Asp)	EIF4G1 (N357D +5 more)	Single nucleotide variant (missense variant)	Parkinson disease 18, autosomal dominant, susceptibility to	GUncertain significance
Select item 493380	NM_198241.3(EIF4G1):c.1673C>T (p.Ser558Phe)	EIF4G1 (S558F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2275419	NM_198241.3(EIF4G1):c.1709C>T (p.Ala570Val)	EIF4G1 (A530V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088032	NM_198241.3(EIF4G1):c.1754A>C (p.Glu585Ala)	EIF4G1 (E498A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1209929	NM_198241.3(EIF4G1):c.1796-3C>T	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2398645	NM_198241.3(EIF4G1):c.1810C>G (p.Leu604Val)	EIF4G1 (L604V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581719	NM_198241.3(EIF4G1):c.1909A>T (p.Ser637Cys)	EIF4G1 (S441C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3379516	NM_198241.3(EIF4G1):c.1926C>G (p.Asp642Glu)	EIF4G1 (D446E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207004	NM_198241.3(EIF4G1):c.2101C>A (p.Pro701Thr)	EIF4G1 (P614T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618625	NM_198241.3(EIF4G1):c.2137C>T (p.Arg713Cys)	EIF4G1 (R518C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1209917	NM_198241.3(EIF4G1):c.2149G>C (p.Ala717Pro)	EIF4G1 (A522P +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240659	NM_198241.3(EIF4G1):c.2213G>T (p.Ser738Ile)	EIF4G1 (S651I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275054	NM_198241.3(EIF4G1):c.2215A>C (p.Lys739Gln)	EIF4G1 (K699Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483026	NM_198241.3(EIF4G1):c.2219G>A (p.Arg740Gln)	EIF4G1 (R545Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285860	NM_198241.3(EIF4G1):c.2275-69C>G	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3088033	NM_198241.3(EIF4G1):c.2468T>C (p.Met823Thr)	EIF4G1 (M783T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229210	NM_198241.3(EIF4G1):c.2473-18A>G	EIF4G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3351450	NM_198241.3(EIF4G1):c.2485A>T (p.Thr829Ser)	EIF4G1 (T634S +6 more)	Single nucleotide variant (missense variant)	EIF4G1-related disorder	GUncertain significance
Select item 2208638	NM_198241.3(EIF4G1):c.2489C>T (p.Thr830Met)	EIF4G1 (T790M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251573	NM_198241.3(EIF4G1):c.2500A>G (p.Thr834Ala)	EIF4G1 (T639A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405191	NM_198241.3(EIF4G1):c.2501C>T (p.Thr834Ile)	EIF4G1 (T639I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809572	NM_198241.3(EIF4G1):c.2609A>C (p.Glu870Ala)	EIF4G1 (E870A +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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