EME1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 710466	NM_152463.4(EME1):c.15G>T (p.Lys5Asn)	EME1 (K5N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2543490	NM_152463.4(EME1):c.71C>G (p.Ala24Gly)	EME1 (A24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377199	NM_152463.4(EME1):c.119G>A (p.Arg40Lys)	EME1 (R40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407579	NM_152463.4(EME1):c.124G>A (p.Glu42Lys)	EME1 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347723	NM_152463.4(EME1):c.197C>T (p.Pro66Leu)	EME1 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088568	NM_152463.4(EME1):c.202C>G (p.Pro68Ala)	EME1 (P68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533204	NM_152463.4(EME1):c.268G>A (p.Glu90Lys)	EME1 (E90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311689	NM_152463.4(EME1):c.317C>A (p.Thr106Asn)	EME1 (T106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254015	NM_152463.4(EME1):c.331A>C (p.Ser111Arg)	EME1 (S111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390163	NM_152463.4(EME1):c.380A>G (p.Asn127Ser)	EME1 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508140	NM_152463.4(EME1):c.451C>T (p.Pro151Ser)	EME1 (P151S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088569	NM_152463.4(EME1):c.457A>G (p.Arg153Gly)	EME1 (R153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226578	NM_152463.4(EME1):c.524C>T (p.Thr175Ile)	EME1 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088570	NM_152463.4(EME1):c.602C>T (p.Pro201Leu)	EME1 (P201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088571	NM_152463.4(EME1):c.704C>T (p.Ala235Val)	EME1 (A235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604908	NM_152463.4(EME1):c.754A>G (p.Ile252Val)	EME1 (I252V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258453	NM_152463.4(EME1):c.766C>G (p.Leu256Val)	EME1 (L256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463972	NM_152463.4(EME1):c.845T>C (p.Ile282Thr)	EME1 (I282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261155	NM_152463.4(EME1):c.851C>T (p.Ala284Val)	EME1 (A284V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088572	NM_152463.4(EME1):c.863C>T (p.Pro288Leu)	EME1 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612100	NM_152463.4(EME1):c.896C>T (p.Pro299Leu)	EME1 (P299L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525123	NM_152463.4(EME1):c.934G>A (p.Val312Ile)	EME1 (V312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088562	NM_152463.4(EME1):c.1000G>A (p.Asp334Asn)	EME1 (D334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088563	NM_152463.4(EME1):c.1113-24C>G	EME1 (F376L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236884	NM_152463.4(EME1):c.1256C>T (p.Thr419Ile)	EME1 (T432I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383732	NM_152463.4(EME1):c.1267G>A (p.Ala423Thr)	EME1 (A423T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311845	NM_152463.4(EME1):c.1276G>A (p.Val426Met)	EME1 (V426M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244966	NM_152463.4(EME1):c.1303T>C (p.Phe435Leu)	EME1 (F448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391762	NM_152463.4(EME1):c.1362A>C (p.Glu454Asp)	EME1 (E454D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088564	NM_152463.4(EME1):c.1459C>G (p.Gln487Glu)	EME1 (Q500E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366725	NM_152463.4(EME1):c.1493G>A (p.Ser498Asn)	EME1 (S498N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088565	NM_152463.4(EME1):c.1556C>T (p.Ser519Leu)	EME1 (S519L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391952	NM_152463.4(EME1):c.1591C>G (p.Gln531Glu)	EME1 (Q531E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483125	NM_152463.4(EME1):c.1595T>G (p.Val532Gly)	EME1 (V545G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527336	NM_152463.4(EME1):c.1606G>A (p.Glu536Lys)	EME1 (E536K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088566	NM_152463.4(EME1):c.1627C>T (p.Arg543Cys)	EME1 (R543C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232532	NM_152463.4(EME1):c.1634T>C (p.Ile545Thr)	EME1 (I545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088567	NM_152463.4(EME1):c.1655G>T (p.Arg552Leu)	EME1 (R565L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692406	Single allele	ACSF2, COL1A1 +8 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 48