56945[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 422719	NM_020191.2(MRPS22):c.-42dupA	MRPS22	Duplication	not specified	GLikely benign
Select item 138252	NM_020191.4(MRPS22):c.6G>A (p.Ala2=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2021317	NM_020191.4(MRPS22):c.12C>G (p.Leu4=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029742	NM_020191.4(MRPS22):c.16A>G (p.Thr6Ala)	MRPS22 (T6A)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 7	GUncertain significance
Select item 2134598	NM_020191.4(MRPS22):c.21T>C (p.Thr7=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714207	NM_020191.4(MRPS22):c.27G>C (p.Leu9Phe)	MRPS22 (L9F)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2177068	NM_020191.4(MRPS22):c.33G>A (p.Trp11Ter)	MRPS22 (W11*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2186381	NM_020191.4(MRPS22):c.40_41insA (p.Leu14fs)	MRPS22 (L14fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 591196	NM_020191.4(MRPS22):c.42_43delinsAG (p.Arg15Gly)	MRPS22 (R15G)	Indel (missense variant)	not provided	GUncertain significance
Select item 521612	NM_020191.4(MRPS22):c.42GAG[1] (p.Arg15del)	MRPS22 (R15del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 902377	NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly)	LOC112903839, MRPS22 (R22G)	Single nucleotide variant (missense variant)	Hypotonia with lactic acidemia and hyperammonemia	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 343483	NM_020191.4(MRPS22):c.90G>A (p.Gln30=)	LOC112903839, MRPS22	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 750517	NM_020191.4(MRPS22):c.93C>G (p.Pro31=)	LOC112903839, MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029741	NM_020191.4(MRPS22):c.137T>C (p.Met46Thr)	LOC112903839, MRPS22 (M46T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 507992	NM_020191.4(MRPS22):c.141G>T (p.Gly47=)	LOC112903839, MRPS22	Single nucleotide variant (synonymous variant)	not specified	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 1941884	NM_020191.4(MRPS22):c.149G>T (p.Arg50Leu)	LOC112903839, MRPS22 (R50L)	Single nucleotide variant (missense variant)	not provided	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 902378	NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys)	LOC112903839, MRPS22 (E56K)	Single nucleotide variant (missense variant)	Hypotonia with lactic acidemia and hyperammonemia +1 more	GUncertain significance
Select item 1357928	NM_020191.4(MRPS22):c.171C>T (p.Ala57=)	MRPS22, LOC112903839	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 743755	NM_020191.4(MRPS22):c.172+7G>T	LOC112903839, MRPS22	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343484	NM_020191.4(MRPS22):c.172+11T>C	LOC112903839, MRPS22	Single nucleotide variant (intron variant)	Hypotonia with lactic acidemia and hyperammonemia	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 676316	NM_020191.4(MRPS22):c.172+79G>A	LOC112903839, MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200158	NM_020191.4(MRPS22):c.172+232G>A	LOC112903839, MRPS22	Single nucleotide variant (intron variant)	not provided	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 671343	NM_020191.4(MRPS22):c.173-291G>A	MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610453	NM_020191.4(MRPS22):c.173-18T>C	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214678	NM_020191.4(MRPS22):c.173-15_173-14dup	MRPS22	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 508011	NM_020191.4(MRPS22):c.173-14A>G	MRPS22	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 138250	NM_020191.4(MRPS22):c.201A>G (p.Lys67=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 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 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 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 1472110	NM_020191.4(MRPS22):c.248C>G (p.Thr83Arg)	MRPS22 (T83R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 138251	NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu)	MRPS22 (I95L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2593888	NM_020191.4(MRPS22):c.302C>T (p.Pro101Leu)	MRPS22 (P60L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029744	NM_020191.4(MRPS22):c.318G>A (p.Met106Ile)	MRPS22 (M105I +2 more)	Single nucleotide variant (missense variant)	Hypotonia with lactic acidemia and hyperammonemia	GUncertain significance
Select item 517091	NM_020191.4(MRPS22):c.321T>C (p.Thr107=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 343485	NM_020191.4(MRPS22):c.327A>G (p.Ala109=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1203533	NM_020191.4(MRPS22):c.339+4C>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286280	NM_020191.4(MRPS22):c.339+102C>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230142	NM_020191.4(MRPS22):c.339+175A>G	MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223723	NM_020191.4(MRPS22):c.339+290C>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220654	NM_020191.4(MRPS22):c.340-100A>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214934	NM_020191.4(MRPS22):c.340-72T>C	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787456	NM_020191.4(MRPS22):c.340-18_340-15del	MRPS22	Microsatellite (intron variant)	not provided	GLikely benign
Select item 343486	NM_020191.4(MRPS22):c.340-14T>A	MRPS22	Single nucleotide variant (intron variant)	Hypotonia with lactic acidemia and hyperammonemia +2 more	GConflicting classifications of pathogenicity
Select item 1612981	NM_020191.4(MRPS22):c.363A>G (p.Ala121=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2156576	NM_020191.4(MRPS22):c.374G>A (p.Arg125Gln)	MRPS22 (R125Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2892713	NM_020191.4(MRPS22):c.378A>G (p.Leu126=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 496583	NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln)	MRPS22 (R135Q +2 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	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 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 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 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 1956346	NM_020191.4(MRPS22):c.468T>C (p.Tyr156=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 521613	NM_020191.4(MRPS22):c.489T>G (p.Tyr163Ter)	MRPS22 (Y163* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 214686	NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp)	MRPS22 (R168W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214682	NM_020191.4(MRPS22):c.503G>A (p.Arg168Gln)	MRPS22 (R168Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634579	NM_020191.4(MRPS22):c.504+18C>T	MRPS22	Single nucleotide variant (intron 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 676317	NM_020191.4(MRPS22):c.504+92C>T	MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678573	NM_020191.4(MRPS22):c.504+217A>G	MRPS22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215532	NM_020191.4(MRPS22):c.505-41G>A	MRPS22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047712	NM_020191.4(MRPS22):c.505-7del	MRPS22	Deletion (intron variant)	MRPS22-related disorder	GLikely benign
Select item 587534	NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)	MRPS22 (R170C +2 more)	Single nucleotide variant (missense variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 4753	NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	MRPS22 (R170H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 643994	NM_020191.4(MRPS22):c.523A>G (p.Arg175Gly)	MRPS22 (R134G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1570050	NM_020191.4(MRPS22):c.540A>C (p.Thr180=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820420	NM_020191.4(MRPS22):c.544del (p.Arg182fs)	MRPS22 (R181fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 1985689	NM_020191.4(MRPS22):c.571C>T (p.Arg191Ter)	MRPS22 (R150* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 1980475	NM_020191.4(MRPS22):c.579A>T (p.Ile193=)	MRPS22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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