ClinVar for Gene (Select 56945) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209050	NM_020191.4(MRPS22):c.781C>G (p.Leu261Val)	MRPS22 (L220V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209040	NM_020191.4(MRPS22):c.625A>G (p.Ile209Val)	MRPS22 (I208V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209035	NM_020191.4(MRPS22):c.574A>G (p.Met192Val)	MRPS22 (M192V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209009	NM_020191.4(MRPS22):c.227A>G (p.Gln76Arg)	MRPS22 (Q75R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209002	NM_020191.4(MRPS22):c.161G>T (p.Ser54Ile)	LOC112903839, MRPS22 (S54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208997	NM_020191.4(MRPS22):c.1060A>G (p.Ser354Gly)	MRPS22 (S313G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058459	NM_020191.4(MRPS22):c.648+6G>A	MRPS22	Single nucleotide variant (intron variant)	MRPS22-related disorder	GLikely benign
Select item 3048689	NM_020191.4(MRPS22):c.879-3C>T	MRPS22	Single nucleotide variant (intron variant)	MRPS22-related disorder	GLikely benign
Select item 3047712	NM_020191.4(MRPS22):c.505-7del	MRPS22	Deletion (intron variant)	MRPS22-related disorder	GLikely benign
Select item 3034660	NM_020191.4(MRPS22):c.172+476C>T	MRPS22 (S2F)	Single nucleotide variant (missense variant +1 more)	MRPS22-related disorder	GLikely benign
Select item 3029956	NM_020191.4(MRPS22):c.1030C>T (p.Leu344=)	MRPS22	Single nucleotide variant (synonymous variant)	MRPS22-related disorder	GLikely benign
Select item 3010739	NM_020191.4(MRPS22):c.648+16T>A	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984216	NM_020191.4(MRPS22):c.760_763del (p.Asp254fs)	MRPS22 (D253fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2892713	NM_020191.4(MRPS22):c.378A>G (p.Leu126=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2827805	NM_020191.4(MRPS22):c.649-2A>G	MRPS22	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2820420	NM_020191.4(MRPS22):c.544del (p.Arg182fs)	MRPS22 (R181fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2819000	NM_020191.4(MRPS22):c.878+12C>G	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798449	NM_020191.4(MRPS22):c.712G>C (p.Asp238His)	MRPS22 (D238H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787456	NM_020191.4(MRPS22):c.340-18_340-15del	MRPS22	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2785461	NM_020191.4(MRPS22):c.733-8G>A	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691748	NM_020191.4(MRPS22):c.648+1G>T	MRPS22	Single nucleotide variant (splice donor variant)	Hypotonia with lactic acidemia and hyperammonemia	GPathogenic
Select item 2691677	NM_020191.4(MRPS22):c.878+2dup	MRPS22	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2593888	NM_020191.4(MRPS22):c.302C>T (p.Pro101Leu)	MRPS22 (P60L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585583	NM_020191.4(MRPS22):c.433G>T (p.Asp145Tyr)	MRPS22 (D144Y +2 more)	Single nucleotide variant (missense variant)	Hypotonia with lactic acidemia and hyperammonemia	GUncertain significance
Select item 2585582	NM_020191.4(MRPS22):c.943C>T (p.Gln315Ter)	MRPS22 (Q315* +2 more)	Single nucleotide variant (nonsense)	Hypotonia with lactic acidemia and hyperammonemia	GUncertain significance
Select item 2502809	NM_020191.4(MRPS22):c.213G>T (p.Met71Ile)	MRPS22 (M70I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491624	NM_020191.4(MRPS22):c.989T>G (p.Val330Gly)	MRPS22 (V329G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478692	NM_020191.4(MRPS22):c.1063C>T (p.Arg355Cys)	MRPS22 (R354C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445204	NM_020191.4(MRPS22):c.481dup (p.Ile161fs)	MRPS22 (I120fs +2 more)	Duplication (frameshift variant)	Hypotonia with lactic acidemia and hyperammonemia	GLikely pathogenic
Select item 2379535	NM_020191.4(MRPS22):c.457A>C (p.Thr153Pro)	MRPS22 (T152P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337457	NM_020191.4(MRPS22):c.529C>A (p.Pro177Thr)	MRPS22 (P136T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323214	NM_020191.4(MRPS22):c.784T>G (p.Leu262Val)	MRPS22 (L261V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286685	NM_020191.4(MRPS22):c.662A>G (p.Gln221Arg)	MRPS22 (Q180R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274919	NM_020191.4(MRPS22):c.544C>T (p.Arg182Cys)	MRPS22 (R181C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261009	NM_020191.4(MRPS22):c.955del (p.Asp319fs)	MRPS22 (D319fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2247290	NM_020191.4(MRPS22):c.479A>T (p.Asp160Val)	MRPS22 (D119V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231348	NM_020191.4(MRPS22):c.1041_1045dup (p.Tyr349Ter)	MRPS22 (Y348* +2 more)	Duplication (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2228711	NM_020191.4(MRPS22):c.373C>T (p.Arg125Ter)	MRPS22 (R125* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2225027	NM_020191.4(MRPS22):c.906G>T (p.Gln302His)	MRPS22 (Q261H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203907	NM_020191.4(MRPS22):c.896A>C (p.Asn299Thr)	MRPS22 (N299T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191534	NM_020191.4(MRPS22):c.520G>A (p.Val174Ile)	MRPS22 (V174I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186381	NM_020191.4(MRPS22):c.40_41insA (p.Leu14fs)	MRPS22 (L14fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2182167	NM_020191.4(MRPS22):c.10C>T (p.Leu4Phe)	MRPS22 (L4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177068	NM_020191.4(MRPS22):c.33G>A (p.Trp11Ter)	MRPS22 (W11*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2160822	NM_020191.4(MRPS22):c.988-5_988-2dup	MRPS22	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 2156576	NM_020191.4(MRPS22):c.374G>A (p.Arg125Gln)	MRPS22 (R125Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135693	NM_020191.4(MRPS22):c.732+14A>C	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134598	NM_020191.4(MRPS22):c.21T>C (p.Thr7=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132632	NM_020191.4(MRPS22):c.504+19G>A	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128488	NM_020191.4(MRPS22):c.649A>T (p.Thr217Ser)	MRPS22 (T176S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116657	NM_020191.4(MRPS22):c.879-6T>G	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116551	NM_020191.4(MRPS22):c.1032A>C (p.Leu344=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083133	NM_020191.4(MRPS22):c.622A>G (p.Ile208Val)	MRPS22 (I167V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079455	NM_020191.4(MRPS22):c.208T>C (p.Phe70Leu)	MRPS22 (F29L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021317	NM_020191.4(MRPS22):c.12C>G (p.Leu4=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989688	NM_020191.4(MRPS22):c.879-15C>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986007	NM_020191.4(MRPS22):c.914_919del (p.His305_Val306del)	MRPS22	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1985689	NM_020191.4(MRPS22):c.571C>T (p.Arg191Ter)	MRPS22 (R150* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1980475	NM_020191.4(MRPS22):c.579A>T (p.Ile193=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977383	NM_020191.4(MRPS22):c.283A>G (p.Ile95Val)	MRPS22 (I94V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973357	NM_020191.4(MRPS22):c.988-19_988-18del	MRPS22	Deletion (intron variant)	not provided	GLikely benign
Select item 1956346	NM_020191.4(MRPS22):c.468T>C (p.Tyr156=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953845	NM_020191.4(MRPS22):c.148C>T (p.Arg50Cys)	LOC112903839, MRPS22 (R50C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1949634	NM_020191.4(MRPS22):c.869A>G (p.Gln290Arg)	MRPS22 (Q249R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941884	NM_020191.4(MRPS22):c.149G>T (p.Arg50Leu)	LOC112903839, MRPS22 (R50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923635	NM_020191.4(MRPS22):c.879-15C>A	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1806198	NM_020191.4(MRPS22):c.992_993del (p.Phe331fs)	MRPS22 (F290fs +2 more)	Deletion (frameshift variant)	Hypotonia with lactic acidemia and hyperammonemia	GLikely pathogenic
Select item 1716524	NM_020191.4(MRPS22):c.969G>T (p.Glu323Asp)	MRPS22 (E282D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714468	NM_020191.4(MRPS22):c.936G>C (p.Gln312His)	MRPS22 (Q271H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713628	NM_020191.4(MRPS22):c.232A>C (p.Ile78Leu)	MRPS22 (I37L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668261	NM_020191.4(MRPS22):c.172+18C>T	LOC112903839, MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658478	NM_020191.4(MRPS22):c.988-13T>C	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634579	NM_020191.4(MRPS22):c.504+18C>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612981	NM_020191.4(MRPS22):c.363A>G (p.Ala121=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610453	NM_020191.4(MRPS22):c.173-18T>C	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605891	NM_020191.4(MRPS22):c.987+9T>C	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570050	NM_020191.4(MRPS22):c.540A>C (p.Thr180=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557242	NM_020191.4(MRPS22):c.93C>T (p.Pro31=)	LOC112903839, MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549689	NM_020191.4(MRPS22):c.684C>T (p.Leu228=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477449	NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr)	MRPS22 (I212T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475107	NM_020191.4(MRPS22):c.1025T>C (p.Ile342Thr)	MRPS22 (I342T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472110	NM_020191.4(MRPS22):c.248C>G (p.Thr83Arg)	MRPS22 (T83R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1466265	NM_020191.4(MRPS22):c.987+3A>G	MRPS22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1450420	NC_000003.11:g.(?_139062869)_(139108392_?)dup	COPB2, MRPS22	Duplication	not provided	GUncertain significance
Select item 1448607	NM_020191.4(MRPS22):c.493A>G (p.Ile165Val)	MRPS22 (I164V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428895	NM_020191.4(MRPS22):c.445G>A (p.Glu149Lys)	MRPS22 (E108K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 1407582	NM_020191.4(MRPS22):c.883G>A (p.Asp295Asn)	MRPS22 (D295N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395001	NM_020191.4(MRPS22):c.865A>T (p.Ile289Phe)	MRPS22 (I288F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394033	NM_020191.4(MRPS22):c.65G>C (p.Arg22Pro)	LOC112903839, MRPS22 (R22P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390398	NM_020191.4(MRPS22):c.455A>G (p.Glu152Gly)	MRPS22 (E151G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372518	NM_020191.4(MRPS22):c.232A>G (p.Ile78Val)	MRPS22 (I78V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357928	NM_020191.4(MRPS22):c.171C>T (p.Ala57=)	LOC112903839, MRPS22	Single nucleotide variant (synonymous variant)	MRPS22-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1326776	NM_020191.4(MRPS22):c.988-170TG[2]	MRPS22	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1321037	NM_020191.4(MRPS22):c.963T>C (p.Ala321=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320421	NM_020191.4(MRPS22):c.604C>T (p.Arg202Cys)	MRPS22 (R161C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1318615	NM_020191.4(MRPS22):c.572G>A (p.Arg191Gln)	MRPS22 (R150Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317492	NM_020191.4(MRPS22):c.766C>T (p.Arg256Cys)	MRPS22 (R215C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 3