65993[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	AXIN1, BAIAP3 +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 1221216	NM_023936.2(MRPS34):c.*63A>G	MRPS34	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1509309	NM_023936.2(MRPS34):c.655T>A (p.Ter219Lys)	LOC130058182, MRPS34	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2695693	NM_023936.2(MRPS34):c.654C>G (p.Val218=)	LOC130058182, MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195037	NM_023936.2(MRPS34):c.642G>C (p.Lys214Asn)	LOC130058182, MRPS34 (K214N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3209520	NM_023936.2(MRPS34):c.641A>C (p.Lys214Thr)	LOC130058182, MRPS34 (K214T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003310	NM_023936.2(MRPS34):c.637G>A (p.Ala213Thr)	LOC130058182, MRPS34 (A220T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007985	NM_023936.2(MRPS34):c.635G>C (p.Arg212Thr)	LOC130058182, MRPS34 (R212T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491137	NM_023936.2(MRPS34):c.628A>G (p.Lys210Glu)	LOC130058182, MRPS34 (K210E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476126	NM_023936.2(MRPS34):c.625G>C (p.Asp209His)	MRPS34, LOC130058182 (D209H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487837	NM_023936.2(MRPS34):c.620A>T (p.Gln207Leu)	LOC130058182, MRPS34 (Q207L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513485	NM_023936.2(MRPS34):c.598C>T (p.Pro200Ser)	MRPS34 (P207S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1938472	NM_023936.2(MRPS34):c.587T>A (p.Ile196Lys)	MRPS34 (I196K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059953	NM_023936.2(MRPS34):c.585G>A (p.Arg195=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2478589	NM_023936.2(MRPS34):c.578T>C (p.Val193Ala)	MRPS34 (V200A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2715234	NM_023936.2(MRPS34):c.576T>A (p.Asn192Lys)	MRPS34 (N199K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2847514	NM_023936.2(MRPS34):c.571C>T (p.Leu191=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938099	NM_023936.2(MRPS34):c.564G>A (p.Glu188=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527902	NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys)	MRPS34 (E188K +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 32	GLikely pathogenic
Select item 2441484	NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)	MRPS34 (R178* +1 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 32	GLikely pathogenic
Select item 2801294	NM_023936.2(MRPS34):c.525C>T (p.Ile175=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361821	NM_023936.2(MRPS34):c.519G>C (p.Met173Ile)	MRPS34 (M180I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667040	NM_023936.2(MRPS34):c.516C>T (p.Ala172=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2241637	NM_023936.2(MRPS34):c.514G>A (p.Ala172Thr)	MRPS34 (A172T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158241	NM_023936.2(MRPS34):c.513G>A (p.Arg171=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition +1 more	GLikely benign
Select item 1600465	NM_023936.2(MRPS34):c.507C>T (p.Leu169=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1532700	NM_023936.2(MRPS34):c.498C>T (p.Tyr166=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition +1 more	GBenign/Likely benign
Select item 2488155	NM_023936.2(MRPS34):c.494C>G (p.Pro165Arg)	MRPS34 (P165R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174517	NM_023936.2(MRPS34):c.492G>A (p.Val164=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046302	NM_023936.2(MRPS34):c.481C>T (p.Leu161=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition	GLikely benign
Select item 1927529	NM_023936.2(MRPS34):c.459C>G (p.Phe153Leu)	MRPS34 (F153L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072200	NM_023936.2(MRPS34):c.447C>T (p.Ala149=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition +1 more	GBenign/Likely benign
Select item 2029420	NM_023936.2(MRPS34):c.438G>A (p.Glu146=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577985	NM_023936.2(MRPS34):c.436G>C (p.Glu146Gln)	MRPS34 (E146Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2181860	NM_023936.2(MRPS34):c.432G>C (p.Lys144Asn)	MRPS34 (K144N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2026195	NM_023936.2(MRPS34):c.432G>A (p.Lys144=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557801	NM_023936.2(MRPS34):c.419G>A (p.Arg140Gln)	MRPS34 (R140Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2960570	NM_023936.2(MRPS34):c.414C>T (p.Asp138=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986884	NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)	MRPS34 (M135T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2712952	NM_023936.2(MRPS34):c.402C>T (p.Val134=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130804	NM_023936.2(MRPS34):c.386G>C (p.Arg129Pro)	MRPS34 (R129P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837647	NC_000016.10:g.1772495_1773356del	EME2, LOC130058183 +3 more	Deletion	not provided	GPathogenic
Select item 2194881	NM_023936.2(MRPS34):c.365-9C>G	MRPS34 (S126C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935215	NM_023936.2(MRPS34):c.365-24C>T	MRPS34	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2059954	NM_023936.2(MRPS34):c.365-25G>A	MRPS34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051812	NM_023936.2(MRPS34):c.365-26T>G	MRPS34	Single nucleotide variant (intron variant)	MRPS34-related condition	GLikely benign
Select item 2981060	NM_023936.2(MRPS34):c.365-41G>A	MRPS34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599690	NM_023936.2(MRPS34):c.364+9C>T	MRPS34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2475763	NM_023936.2(MRPS34):c.356C>T (p.Thr119Ile)	MRPS34 (T119I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2722794	NM_023936.2(MRPS34):c.327G>A (p.Leu109=)	MRPS34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541583	NM_023936.2(MRPS34):c.327G>C (p.Leu109Phe)	MRPS34 (L109F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1975132	NM_023936.2(MRPS34):c.322A>G (p.Asn108Asp)	MRPS34 (N108D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012930	NM_023936.2(MRPS34):c.322-1G>A	MRPS34	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 438633	NM_023936.2(MRPS34):c.322-10G>A	MRPS34	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 2970500	NM_023936.2(MRPS34):c.321+18G>A	LOC130058183, MRPS34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567070	NM_023936.2(MRPS34):c.321+16C>T	LOC130058183, MRPS34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965763	NM_023936.2(MRPS34):c.321+14G>T	MRPS34, LOC130058183	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599780	NM_023936.2(MRPS34):c.321+13C>G	LOC130058183, MRPS34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1577471	NM_023936.2(MRPS34):c.320_321+2dup	LOC130058183, MRPS34	Duplication (splice donor variant)	not provided +1 more	GBenign
Select item 430586	NM_023936.1(MRPS34):c.321+1G>T	LOC130058183, MRPS34	Single nucleotide variant (splice donor variant)	Leigh syndrome +1 more	GPathogenic
Select item 2629497	NM_023936.2(MRPS34):c.320_321insAGTA (p.Asn108fs)	LOC130058183, MRPS34 (N108fs)	Insertion (frameshift variant)	MRPS34-related condition	GLikely pathogenic
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 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 condition	GLikely benign
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 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 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 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 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 1909010	NM_023936.2(MRPS34):c.260G>C (p.Trp87Ser)	EME2, LOC130058183 +1 more (W87S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 1275184	NM_023936.2(MRPS34):c.174G>C (p.Val58=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition +1 more	GBenign
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 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 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 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 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 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 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 2042832	NM_023936.2(MRPS34):c.121T>C (p.Leu41=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition +1 more	GBenign/Likely benign
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 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

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