MEA1[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 2181600	NM_006245.4(PPP2R5D):c.1672-5C>A	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2119245	NM_006245.4(PPP2R5D):c.1672-1G>C	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2177703	NM_006245.4(PPP2R5D):c.1673T>C (p.Met558Thr)	MEA1, PPP2R5D (M558T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1968215	NM_006245.4(PPP2R5D):c.1674G>A (p.Met558Ile)	MEA1, PPP2R5D (M452I +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2976337	NM_006245.4(PPP2R5D):c.1698A>G (p.Lys566=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1379536	NM_006245.4(PPP2R5D):c.1700T>C (p.Val567Ala)	MEA1, PPP2R5D (V461A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2858005	NM_006245.4(PPP2R5D):c.1708C>T (p.Arg570Trp)	MEA1, PPP2R5D (R419W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1465198	NM_006245.4(PPP2R5D):c.1709G>A (p.Arg570Gln)	MEA1, PPP2R5D (R419Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2691354	NM_006245.4(PPP2R5D):c.1718C>T (p.Ser573Leu)	MEA1, PPP2R5D (S422L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2850345	NM_006245.4(PPP2R5D):c.1719G>T (p.Ser573=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3006652	NM_006245.4(PPP2R5D):c.1728C>G (p.Pro576=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2769273	NM_006245.4(PPP2R5D):c.1731G>A (p.Gln577=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2176934	NM_006245.4(PPP2R5D):c.1734C>T (p.Asp578=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1915809	NM_006245.4(PPP2R5D):c.1735G>A (p.Val579Met)	MEA1, PPP2R5D (V428M +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2841955	NM_006245.4(PPP2R5D):c.1741_1742dup (p.Ile582fs)	MEA1, PPP2R5D (I476fs +3 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2488535	NM_006245.4(PPP2R5D):c.1753C>G (p.Leu585Val)	MEA1, PPP2R5D (L434V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 809937	NM_006245.4(PPP2R5D):c.1760C>T (p.Ala587Val)	MEA1, PPP2R5D (A436V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1028495	NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)	MEA1, PPP2R5D (H556Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 1651756	NM_006245.4(PPP2R5D):c.1764C>T (p.His588=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1810447	NM_006245.4(PPP2R5D):c.1768C>T (p.Arg590Trp)	MEA1, PPP2R5D (R439W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2076931	NM_006245.4(PPP2R5D):c.1772C>T (p.Ala591Val)	MEA1, PPP2R5D (A485V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1232946	NM_006245.4(PPP2R5D):c.1773G>A (p.Ala591=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2981228	NM_006245.4(PPP2R5D):c.1774G>C (p.Glu592Gln)	MEA1, PPP2R5D (E486Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695243	NM_006245.4(PPP2R5D):c.1776A>C (p.Glu592Asp)	MEA1, PPP2R5D (E560D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2915914	NM_006245.4(PPP2R5D):c.1779G>C (p.Glu593Asp)	MEA1, PPP2R5D (E442D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1576322	NM_006245.4(PPP2R5D):c.1788T>C (p.Thr596=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1461369	NM_006245.4(PPP2R5D):c.1799A>G (p.Glu600Gly)	MEA1, PPP2R5D (E449G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1956626	NM_006245.4(PPP2R5D):c.1800G>A (p.Glu600=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2692507	NM_006245.4(PPP2R5D):c.1806_1807del (p.Ter603ThrextTer?)	MEA1, PPP2R5D	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1280362	NM_006245.4(PPP2R5D):c.*21G>C	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1193304	NM_006245.4(PPP2R5D):c.*265T>C	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3124776	NM_014623.4(MEA1):c.533G>A (p.Arg178Gln)	MEA1 (R178Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513961	NM_014623.4(MEA1):c.532C>T (p.Arg178Trp)	MEA1 (R181W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124775	NM_014623.4(MEA1):c.455C>T (p.Ala152Val)	MEA1 (A139V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124774	NM_014623.4(MEA1):c.403C>G (p.Pro135Ala)	MEA1 (P122A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357377	NM_014623.4(MEA1):c.371C>T (p.Ala124Val)	MEA1 (A111V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656570	NM_014623.4(MEA1):c.356AGG[1] (p.Glu120del)	MEA1 (E107del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3124773	NM_014623.4(MEA1):c.357G>T (p.Glu119Asp)	MEA1 (E122D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124771	NM_014623.4(MEA1):c.296G>A (p.Arg99Gln)	MEA1 (R102Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320715	NM_014623.4(MEA1):c.260T>C (p.Val87Ala)	MEA1 (V87A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293913	NM_014623.4(MEA1):c.236A>G (p.Gln79Arg)	MEA1 (Q66R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293914	NM_014623.4(MEA1):c.229C>T (p.Pro77Ser)	MEA1 (P77S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124770	NM_014623.4(MEA1):c.182C>T (p.Thr61Met)	MEA1 (T48M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124769	NM_014623.4(MEA1):c.169G>A (p.Glu57Lys)	MEA1 (E60K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494618	NM_014623.4(MEA1):c.119A>G (p.Gln40Arg)	MEA1 (Q40R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318247	NM_014623.4(MEA1):c.89T>C (p.Phe30Ser)	MEA1 (F17S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 59