ClinVar for Gene (Select 56478) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088027	NM_019843.4(EIF4ENIF1):c.826G>C (p.Glu276Gln)	EIF4ENIF1 (E113Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088026	NM_019843.4(EIF4ENIF1):c.766C>G (p.Arg256Gly)	EIF4ENIF1 (R256G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088025	NM_019843.4(EIF4ENIF1):c.608G>A (p.Arg203His)	EIF4ENIF1 (R203H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088024	NM_019843.4(EIF4ENIF1):c.593T>C (p.Phe198Ser)	EIF4ENIF1 (F198S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088023	NM_019843.4(EIF4ENIF1):c.403C>A (p.Arg135Ser)	EIF4ENIF1 (R135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088022	NM_019843.4(EIF4ENIF1):c.329T>C (p.Leu110Ser)	EIF4ENIF1 (L110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088021	NM_019843.4(EIF4ENIF1):c.2815T>G (p.Ser939Ala)	EIF4ENIF1 (S939A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088020	NM_019843.4(EIF4ENIF1):c.2648C>T (p.Pro883Leu)	EIF4ENIF1 (P883L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088019	NM_019843.4(EIF4ENIF1):c.2417G>A (p.Arg806His)	EIF4ENIF1 (R632H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088018	NM_019843.4(EIF4ENIF1):c.2416C>T (p.Arg806Cys)	EIF4ENIF1 (R632C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088017	NM_019843.4(EIF4ENIF1):c.2267A>G (p.Asn756Ser)	EIF4ENIF1 (N756S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088016	NM_019843.4(EIF4ENIF1):c.1931A>T (p.Tyr644Phe)	EIF4ENIF1 (Y644F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088015	NM_019843.4(EIF4ENIF1):c.1774A>T (p.Thr592Ser)	EIF4ENIF1 (T417S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088014	NM_019843.4(EIF4ENIF1):c.1690T>G (p.Ser564Ala)	EIF4ENIF1 (S389A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088013	NM_019843.4(EIF4ENIF1):c.1648A>G (p.Ser550Gly)	EIF4ENIF1 (S375G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088012	NM_019843.4(EIF4ENIF1):c.1634G>C (p.Ser545Thr)	EIF4ENIF1 (S545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088011	NM_019843.4(EIF4ENIF1):c.1625A>G (p.Asn542Ser)	EIF4ENIF1 (N367S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088009	NM_019843.4(EIF4ENIF1):c.1072C>T (p.Pro358Ser)	EIF4ENIF1 (P195S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607606	NM_019843.4(EIF4ENIF1):c.2017C>A (p.Pro673Thr)	EIF4ENIF1 (P673T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606286	NM_019843.4(EIF4ENIF1):c.763C>G (p.Arg255Gly)	EIF4ENIF1 (R255G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589232	NM_019843.4(EIF4ENIF1):c.2831G>A (p.Arg944His)	EIF4ENIF1 (R770H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561259	NM_019843.4(EIF4ENIF1):c.767G>A (p.Arg256Gln)	EIF4ENIF1 (R256Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560784	NM_019843.4(EIF4ENIF1):c.1721G>A (p.Arg574Gln)	EIF4ENIF1 (R574Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555053	NM_019843.4(EIF4ENIF1):c.1745G>A (p.Arg582His)	EIF4ENIF1 (R582H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537606	NM_019843.4(EIF4ENIF1):c.1877C>G (p.Ala626Gly)	EIF4ENIF1 (A452G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537439	NM_019843.4(EIF4ENIF1):c.793G>A (p.Val265Ile)	EIF4ENIF1 (V102I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535727	NM_019843.4(EIF4ENIF1):c.2159A>T (p.Lys720Ile)	EIF4ENIF1 (K720I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527010	NM_019843.4(EIF4ENIF1):c.1499A>T (p.Gln500Leu)	EIF4ENIF1 (Q500L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513291	NM_019843.4(EIF4ENIF1):c.764G>A (p.Arg255Gln)	EIF4ENIF1 (R255Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477178	NM_019843.4(EIF4ENIF1):c.1258A>G (p.Lys420Glu)	EIF4ENIF1 (K420E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391767	NM_019843.4(EIF4ENIF1):c.2030G>A (p.Gly677Glu)	EIF4ENIF1 (G677E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381334	NM_019843.4(EIF4ENIF1):c.1721G>T (p.Arg574Leu)	EIF4ENIF1 (R574L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380468	NM_019843.4(EIF4ENIF1):c.1511G>A (p.Ser504Asn)	EIF4ENIF1 (S504N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375142	NM_019843.4(EIF4ENIF1):c.817G>A (p.Glu273Lys)	EIF4ENIF1 (E110K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367516	NM_019843.4(EIF4ENIF1):c.550G>A (p.Asp184Asn)	EIF4ENIF1 (D184N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364218	NM_019843.4(EIF4ENIF1):c.1853G>A (p.Ser618Asn)	EIF4ENIF1 (S444N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364172	NM_019843.4(EIF4ENIF1):c.2194A>G (p.Lys732Glu)	EIF4ENIF1 (K732E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359704	NM_019843.4(EIF4ENIF1):c.1642A>G (p.Met548Val)	EIF4ENIF1 (M373V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355136	NM_019843.4(EIF4ENIF1):c.121C>A (p.Leu41Ile)	EIF4ENIF1 (L41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350890	NM_019843.4(EIF4ENIF1):c.2564C>T (p.Pro855Leu)	EIF4ENIF1 (P855L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345927	NM_019843.4(EIF4ENIF1):c.2668G>A (p.Gly890Arg)	EIF4ENIF1 (G716R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339404	NM_019843.4(EIF4ENIF1):c.883G>A (p.Ala295Thr)	EIF4ENIF1 (A132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318956	NM_019843.4(EIF4ENIF1):c.554G>A (p.Arg185Gln)	EIF4ENIF1 (R185Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317265	NM_019843.4(EIF4ENIF1):c.272G>A (p.Arg91Gln)	EIF4ENIF1 (R91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308492	NM_019843.4(EIF4ENIF1):c.973G>T (p.Asp325Tyr)	EIF4ENIF1 (D162Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282805	NM_019843.4(EIF4ENIF1):c.2795C>T (p.Ser932Leu)	EIF4ENIF1 (S932L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276992	NM_019843.4(EIF4ENIF1):c.1803T>G (p.Asp601Glu)	EIF4ENIF1 (D426E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257663	NM_019843.4(EIF4ENIF1):c.2306C>T (p.Thr769Ile)	EIF4ENIF1 (T769I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251253	NM_019843.4(EIF4ENIF1):c.256G>C (p.Glu86Gln)	EIF4ENIF1 (E86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234463	NM_019843.4(EIF4ENIF1):c.1471A>G (p.Met491Val)	EIF4ENIF1 (M491V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224098	NM_019843.4(EIF4ENIF1):c.2242G>A (p.Asp748Asn)	EIF4ENIF1 (D574N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217264	NM_019843.4(EIF4ENIF1):c.1415A>G (p.Asn472Ser)	EIF4ENIF1 (N309S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879552	NM_019843.4(EIF4ENIF1):c.97G>A (p.Glu33Lys)	EIF4ENIF1 (E33K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 1298891	NM_019843.4(EIF4ENIF1):c.2525A>C (p.Gln842Pro)	EIF4ENIF1 (Q668P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176139	NM_019843.4(EIF4ENIF1):c.22G>T (p.Glu8Ter)	EIF4ENIF1 (E8*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1176138	NM_019843.4(EIF4ENIF1):c.2207-4A>T	EIF4ENIF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979603	GRCh37/hg19 22q12.2(chr22:31565901-32105115)x1	LIMK2, PISD +7 more	Copy number loss	not provided	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 798944	NM_019843.4(EIF4ENIF1):c.2949C>T (p.Tyr983=)	EIF4ENIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778916	NM_019843.4(EIF4ENIF1):c.1404C>T (p.Ala468=)	EIF4ENIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739790	NM_019843.4(EIF4ENIF1):c.1660A>C (p.Thr554Pro)	EIF4ENIF1 (T379P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686129	GRCh37/hg19 22q12.2-12.3(chr22:31748161-32659394)x3	C22orf42, DEPDC5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 80