"Ambry Genetics"[submitter] AND "EME2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209477	NM_023936.2(MRPS34):c.236T>G (p.Leu79Arg)	EME2, LOC130058183 +1 more (L79R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218638	NM_023936.2(MRPS34):c.188G>T (p.Arg63Leu)	EME2, MRPS34 (R63L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1910092	NM_023936.2(MRPS34):c.188G>A (p.Arg63His)	EME2, MRPS34 (R63H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2252147	NM_023936.2(MRPS34):c.146G>A (p.Arg49Gln)	EME2, MRPS34 (R49Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3209463	NM_023936.2(MRPS34):c.136T>C (p.Ser46Pro)	EME2, MRPS34 (S46P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299772	NM_023936.2(MRPS34):c.125C>T (p.Thr42Met)	EME2, MRPS34 (T42M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2178740	NM_023936.2(MRPS34):c.117G>C (p.Glu39Asp)	EME2, MRPS34 (E39D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2461711	NM_023936.2(MRPS34):c.74T>G (p.Leu25Arg)	EME2, MRPS34 (L25R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1930984	NM_023936.2(MRPS34):c.50G>C (p.Arg17Pro)	EME2, LOC130058184 +1 more (R17P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2383100	NM_023936.2(MRPS34):c.26G>A (p.Arg9Gln)	EME2, LOC130058184 +1 more (R9Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3088573	NM_001257370.2(EME2):c.744C>T (p.Cys248=)	EME2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2275771	NM_080861.4(SPSB3):c.1057C>G (p.Arg353Gly)	EME2, SPSB3 (R353G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465546	NM_080861.4(SPSB3):c.1031C>T (p.Pro344Leu)	EME2, SPSB3 (P344L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381066	NM_080861.4(SPSB3):c.1024C>G (p.Arg342Gly)	EME2, SPSB3 (R342G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2397374	NM_080861.4(SPSB3):c.1009G>A (p.Ala337Thr)	EME2, SPSB3 (A337T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209936	NM_080861.4(SPSB3):c.1001C>T (p.Ala334Val)	EME2, SPSB3 (A334V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208427	NM_080861.4(SPSB3):c.986C>G (p.Ser329Cys)	EME2, SPSB3 (S329C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2483842	NM_080861.4(SPSB3):c.970C>G (p.Arg324Gly)	EME2, SPSB3 (R324G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169447	NM_080861.4(SPSB3):c.968G>A (p.Arg323His)	EME2, SPSB3 (R323H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548155	NM_080861.4(SPSB3):c.875C>T (p.Ser292Leu)	EME2, SPSB3 (S292L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263471	NM_080861.4(SPSB3):c.865C>T (p.Arg289Trp)	EME2, SPSB3 (R289W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509138	NM_080861.4(SPSB3):c.820G>T (p.Ala274Ser)	EME2, SPSB3 (A274S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2259962	NM_080861.4(SPSB3):c.806G>A (p.Arg269His)	EME2, SPSB3 (R269H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2569020	NM_080861.4(SPSB3):c.761C>T (p.Pro254Leu)	EME2, SPSB3 (P254L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169445	NM_080861.4(SPSB3):c.750G>C (p.Lys250Asn)	EME2, SPSB3 (K250N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339341	NM_080861.4(SPSB3):c.652T>A (p.Ser218Thr)	EME2, SPSB3 (S218T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2217331	NM_080861.4(SPSB3):c.643G>A (p.Gly215Ser)	EME2, SPSB3 (G215S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300856	NM_080861.4(SPSB3):c.616G>C (p.Asp206His)	EME2, SPSB3 (D206H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169444	NM_080861.4(SPSB3):c.542C>T (p.Thr181Met)	EME2, SPSB3 (T181M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169443	NM_080861.4(SPSB3):c.536G>A (p.Arg179His)	EME2, SPSB3 (R179H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2248518	NM_080861.4(SPSB3):c.520G>A (p.Asp174Asn)	EME2, SPSB3 (D174N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169442	NM_080861.4(SPSB3):c.465G>A (p.Met155Ile)	EME2, SPSB3 (M155I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169441	NM_080861.4(SPSB3):c.463A>G (p.Met155Val)	EME2, SPSB3 (M155V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169440	NM_080861.4(SPSB3):c.359G>A (p.Cys120Tyr)	EME2, SPSB3 (C120Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373336	NM_080861.4(SPSB3):c.284G>A (p.Arg95His)	EME2, SPSB3 (R95H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308931	NM_080861.4(SPSB3):c.245G>A (p.Cys82Tyr)	EME2, SPSB3 (C82Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169439	NM_080861.4(SPSB3):c.218G>C (p.Cys73Ser)	EME2, SPSB3 (C73S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462334	NM_080861.4(SPSB3):c.197C>G (p.Thr66Ser)	EME2, SPSB3 (T66S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2393087	NM_080861.4(SPSB3):c.179C>T (p.Pro60Leu)	EME2, SPSB3 (P60L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2542317	NM_080861.4(SPSB3):c.137C>G (p.Ser46Trp)	EME2, SPSB3 (S46W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481339	NM_080861.4(SPSB3):c.64G>A (p.Ala22Thr)	EME2, SPSB3 (A22T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602213	NM_080861.4(SPSB3):c.58C>G (p.Arg20Gly)	EME2, SPSB3 (R20G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 42