ClinVar for Gene (Select 197342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322397	NM_080861.4(SPSB3):c.892G>A (p.Gly298Ser)	EME2, SPSB3 (G298S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3322396	NM_080861.4(SPSB3):c.720A>G (p.Ile240Met)	EME2, SPSB3 (I240M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3322395	NM_080861.4(SPSB3):c.1061G>A (p.Arg354Gln)	EME2, SPSB3 (R354Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
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 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 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 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 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 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 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 3088573	NM_001257370.2(EME2):c.744C>T (p.Cys248=)	EME2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3061716	NM_023936.2(MRPS34):c.291C>T (p.Leu97=)	EME2, LOC130058183 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related disorder	GLikely benign
Select item 3018699	NM_023936.2(MRPS34):c.138T>C (p.Ser46=)	MRPS34, EME2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3006759	NM_023936.2(MRPS34):c.81G>A (p.Arg27=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2973030	NM_023936.2(MRPS34):c.276G>C (p.Pro92=)	EME2, LOC130058183 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2884434	NM_023936.2(MRPS34):c.97C>G (p.Leu33Val)	EME2, MRPS34 (L33V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876971	NM_023936.2(MRPS34):c.164G>A (p.Trp55Ter)	EME2, MRPS34 (W55*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2837647	NC_000016.10:g.1772495_1773356del	EME2, LOC130058183 +3 more	Deletion	not provided	GPathogenic
Select item 2779083	NM_023936.2(MRPS34):c.33_34delinsGA (p.Ile11_Ala12delinsMetThr)	EME2, LOC130058184 +1 more	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2773038	NM_023936.2(MRPS34):c.283T>G (p.Trp95Gly)	EME2, LOC130058183 +1 more (W95G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2733045	NM_023936.2(MRPS34):c.148C>T (p.Leu50=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2726544	NM_023936.2(MRPS34):c.15G>A (p.Lys5=)	EME2, LOC130058184 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related disorder +1 more	GLikely benign
Select item 2684773	GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	CLCN7, CRAMP1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2645947	NM_001257370.2(EME2):c.699C>T (p.Asp233=)	EME2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645946	NM_001257370.2(EME2):c.270C>T (p.Ala90=)	EME2, LOC130058187	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 2580210	NM_023936.2(MRPS34):c.289C>T (p.Leu97Phe)	EME2, LOC130058183 +1 more (L97F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial disease	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 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 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 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 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2422099	NM_023936.2(MRPS34):c.230G>A (p.Gly77Asp)	EME2, MRPS34 (G77D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 2383100	NM_023936.2(MRPS34):c.26G>A (p.Arg9Gln)	EME2, LOC130058184 +1 more (R9Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 2201313	NM_023936.2(MRPS34):c.105G>A (p.Ala35=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2182042	NM_023936.2(MRPS34):c.251C>T (p.Ser84Phe)	EME2, LOC130058183 +1 more (S84F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 2166227	NM_023936.2(MRPS34):c.11A>G (p.Lys4Arg)	EME2, LOC130058184 +1 more (K4R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2121797	NM_023936.2(MRPS34):c.274C>A (p.Pro92Thr)	EME2, LOC130058183 +1 more (P92T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2121424	NM_023936.2(MRPS34):c.232C>T (p.Arg78Cys)	EME2, LOC130058183 +1 more (R78C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2095446	NM_023936.2(MRPS34):c.240C>T (p.Val80=)	EME2, LOC130058183 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2079203	NM_023936.2(MRPS34):c.67G>A (p.Glu23Lys)	EME2, MRPS34 (E23K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2074687	NM_023936.2(MRPS34):c.80G>A (p.Arg27Lys)	MRPS34, EME2 (R27K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2042832	NM_023936.2(MRPS34):c.121T>C (p.Leu41=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely 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 1930798	NM_023936.2(MRPS34):c.12G>A (p.Lys4=)	EME2, LOC130058184 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related disorder +1 more	GLikely benign
Select item 1910092	NM_023936.2(MRPS34):c.188G>A (p.Arg63His)	EME2, MRPS34 (R63H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1909010	NM_023936.2(MRPS34):c.260G>C (p.Trp87Ser)	EME2, LOC130058183 +1 more (W87S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1901270	NM_023936.2(MRPS34):c.77A>C (p.Asn26Thr)	EME2, MRPS34 (N26T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1716896	NM_023936.2(MRPS34):c.164G>T (p.Trp55Leu)	EME2, MRPS34 (W55L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1715558	NM_023936.2(MRPS34):c.307G>C (p.Asp103His)	EME2, LOC130058183 +1 more (D103H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1669104	NM_023936.2(MRPS34):c.67G>C (p.Glu23Gln)	EME2, MRPS34 (E23Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1487569	NM_023936.2(MRPS34):c.21_22delinsGG (p.Pro8Ala)	EME2, LOC130058184 +1 more (P8A)	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1480595	NM_023936.2(MRPS34):c.280T>C (p.Tyr94His)	EME2, LOC130058183 +1 more (Y94H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1373338	NM_023936.2(MRPS34):c.153G>A (p.Pro51=)	EME2, MRPS34	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1275184	NM_023936.2(MRPS34):c.174G>C (p.Val58=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	ANTKMT, WDR90 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 1003442	NM_023936.2(MRPS34):c.23C>G (p.Pro8Arg)	EME2, LOC130058184 +1 more (P8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	BAIAP3, CACNA1H +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	HS3ST6, IFT140 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	FAHD1, CRAMP1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 787434	NM_001257370.2(EME2):c.951C>T (p.Ser317=)	EME2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787433	NM_001257370.2(EME2):c.626G>A (p.Gly209Asp)	EME2 (G209D)	Single nucleotide variant (missense variant)	not provided	GBenign

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