ClinVar for Gene (Select 60678) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274572	NM_021937.5(EEFSEC):c.311T>A (p.Ile104Asn)	EEFSEC, LOC129937512 +1 more (I104N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274571	NM_021937.5(EEFSEC):c.10C>T (p.Arg4Trp)	EEFSEC, LOC129937512 +1 more (R4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274570	NM_021937.5(EEFSEC):c.1544T>C (p.Leu515Pro)	EEFSEC (L515P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274569	NM_021937.5(EEFSEC):c.1759G>A (p.Asp587Asn)	EEFSEC (D587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274568	NM_021937.5(EEFSEC):c.1685A>G (p.Gln562Arg)	EEFSEC (Q562R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274566	NM_021937.5(EEFSEC):c.181C>T (p.Pro61Ser)	EEFSEC, LOC129937512 +1 more (P61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274565	NM_021937.5(EEFSEC):c.1093G>T (p.Asp365Tyr)	EEFSEC (D365Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087355	NM_021937.5(EEFSEC):c.968C>T (p.Pro323Leu)	EEFSEC (P323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087354	NM_021937.5(EEFSEC):c.919G>A (p.Glu307Lys)	EEFSEC (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087353	NM_021937.5(EEFSEC):c.901G>A (p.Gly301Arg)	EEFSEC (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087352	NM_021937.5(EEFSEC):c.692G>A (p.Cys231Tyr)	EEFSEC (C231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087351	NM_021937.5(EEFSEC):c.617T>C (p.Ile206Thr)	EEFSEC (I206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087349	NM_021937.5(EEFSEC):c.550G>T (p.Val184Leu)	EEFSEC (V184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087348	NM_021937.5(EEFSEC):c.539C>T (p.Pro180Leu)	EEFSEC (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087347	NM_021937.5(EEFSEC):c.488T>G (p.Met163Arg)	EEFSEC (M163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087346	NM_021937.5(EEFSEC):c.442A>G (p.Ile148Val)	EEFSEC (I148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087345	NM_021937.5(EEFSEC):c.430G>T (p.Val144Leu)	EEFSEC (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087343	NM_021937.5(EEFSEC):c.244G>A (p.Gly82Ser)	EEFSEC, LOC129937512 +1 more (G82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087342	NM_021937.5(EEFSEC):c.187C>T (p.Arg63Cys)	LOC129937512, RUVBL1 +1 more (R63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087341	NM_021937.5(EEFSEC):c.1771C>T (p.Arg591Cys)	EEFSEC (R591C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087340	NM_021937.5(EEFSEC):c.1739C>T (p.Thr580Ile)	EEFSEC (T580I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087339	NM_021937.5(EEFSEC):c.1703G>A (p.Arg568Gln)	EEFSEC (R568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087338	NM_021937.5(EEFSEC):c.1699G>A (p.Glu567Lys)	EEFSEC (E567K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087337	NM_021937.5(EEFSEC):c.1658G>A (p.Arg553Gln)	EEFSEC (R553Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087336	NM_021937.5(EEFSEC):c.1543C>A (p.Leu515Met)	EEFSEC (L515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087335	NM_021937.5(EEFSEC):c.1502A>T (p.Gln501Leu)	EEFSEC (Q501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087334	NM_021937.5(EEFSEC):c.1471C>T (p.Arg491Cys)	EEFSEC (R491C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087333	NM_021937.5(EEFSEC):c.1389C>G (p.Phe463Leu)	EEFSEC (F463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087332	NM_021937.5(EEFSEC):c.130G>C (p.Glu44Gln)	EEFSEC, LOC129937512 +1 more (E44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087331	NM_021937.5(EEFSEC):c.114G>T (p.Lys38Asn)	LOC129937512, RUVBL1 +1 more (K38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067139	NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)	EEFSEC (V585fs)	Duplication (frameshift variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GLikely pathogenic
Select item 3067138	NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)	EEFSEC (D390A)	Single nucleotide variant (missense variant)	Autosomal recessive non-syndromic intellectual disability	GLikely pathogenic
Select item 2654109	NM_021937.5(EEFSEC):c.144G>T (p.Thr48=)	EEFSEC, LOC129937512 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605326	NM_021937.5(EEFSEC):c.616A>G (p.Ile206Val)	EEFSEC (I206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597496	NM_021937.5(EEFSEC):c.454C>T (p.Pro152Ser)	EEFSEC (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595140	NM_021937.5(EEFSEC):c.530G>A (p.Arg177Gln)	EEFSEC (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558749	NM_021937.5(EEFSEC):c.1667G>T (p.Arg556Leu)	EEFSEC (R556L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553216	NM_021937.5(EEFSEC):c.176C>A (p.Pro59Gln)	EEFSEC, LOC129937512 +1 more (P59Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542507	NM_021937.5(EEFSEC):c.1477C>G (p.Leu493Val)	EEFSEC (L493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540339	NM_021937.5(EEFSEC):c.965T>C (p.Ile322Thr)	EEFSEC (I322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494570	NM_021937.5(EEFSEC):c.1328G>A (p.Arg443Gln)	EEFSEC (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477631	NM_021937.5(EEFSEC):c.739T>A (p.Ser247Thr)	EEFSEC (S247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468708	NM_021937.5(EEFSEC):c.1213C>T (p.His405Tyr)	EEFSEC (H405Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465244	NM_021937.5(EEFSEC):c.133C>G (p.Arg45Gly)	EEFSEC, LOC129937512 +1 more (R45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2384344	NM_021937.5(EEFSEC):c.1775T>C (p.Met592Thr)	EEFSEC (M592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349026	NM_021937.5(EEFSEC):c.811C>A (p.Gln271Lys)	EEFSEC (Q271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339666	NM_021937.5(EEFSEC):c.505A>G (p.Lys169Glu)	EEFSEC (K169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320363	NM_021937.5(EEFSEC):c.1567G>A (p.Gly523Ser)	EEFSEC (G523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316486	NM_021937.5(EEFSEC):c.1351C>T (p.Leu451Phe)	EEFSEC (L451F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311040	NM_021937.5(EEFSEC):c.1748G>C (p.Arg583Pro)	EEFSEC (R583P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305857	NM_021937.5(EEFSEC):c.854G>A (p.Arg285Gln)	EEFSEC (R285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292183	NM_021937.5(EEFSEC):c.1510G>A (p.Val504Met)	EEFSEC (V504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283750	NM_021937.5(EEFSEC):c.55G>A (p.Gly19Ser)	EEFSEC, LOC129937512 +1 more (G19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217202	NM_021937.5(EEFSEC):c.1647G>T (p.Lys549Asn)	EEFSEC (K549N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807856	GRCh37/hg19 3q21.3(chr3:127540292-128170755)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527041	GRCh37/hg19 3q21.3(chr3:127530506-128170426)	EEFSEC, KBTBD12 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1375570	NC_000003.11:g.(?_127771396)_(128205874_?)del	DNAJB8, EEFSEC +3 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183986	Single allele	DNAJB8, EEFSEC +4 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 785062	NM_021937.5(EEFSEC):c.1304C>T (p.Ala435Val)	EEFSEC (A435V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775907	NM_021937.5(EEFSEC):c.540G>A (p.Pro180=)	EEFSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720323	NM_021937.5(EEFSEC):c.1772G>A (p.Arg591His)	EEFSEC (R591H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716104	NM_021937.5(EEFSEC):c.1742T>G (p.Phe581Cys)	EEFSEC (F581C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689158	GRCh37/hg19 3q21.3(chr3:127538025-128174439)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395357	GRCh37/hg19 3q21.3(chr3:127521474-128075630)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152304	GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3	EEFSEC, KBTBD12 +32 more	Copy number gain	See cases	GUncertain significance
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 79