92667[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 1329826	NM_052865.4(MGME1):c.-98C>T	MGME1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1213093	NM_052865.4(MGME1):c.-59-122C>T	LOC126862983, MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196344	NM_052865.4(MGME1):c.-59-107T>G	LOC126862983, MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935582	NM_052865.4(MGME1):c.1A>G (p.Met1Val)	LOC126862983, MGME1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2460964	NM_052865.4(MGME1):c.7A>G (p.Met3Val)	LOC126862983, MGME1 (M3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063993	NM_052865.4(MGME1):c.9G>A (p.Met3Ile)	LOC126862983, MGME1 (M3I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662636	NM_052865.4(MGME1):c.12G>C (p.Lys4Asn)	LOC126862983, MGME1 (K4N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2835014	NM_052865.4(MGME1):c.23C>G (p.Thr8Ser)	LOC126862983, MGME1 (T8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956201	NM_052865.4(MGME1):c.23C>T (p.Thr8Ile)	LOC126862983, MGME1 (T8I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041766	NM_052865.4(MGME1):c.35del (p.Gln12fs)	LOC126862983, MGME1 (Q12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 380041	NM_052865.4(MGME1):c.43A>T (p.Ser15Cys)	LOC126862983, MGME1 (S15C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 11 +2 more	GBenign
Select item 2025883	NM_052865.4(MGME1):c.44G>A (p.Ser15Asn)	LOC126862983, MGME1 (S15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175875	NM_052865.4(MGME1):c.48_50del (p.Lys17del)	LOC126862983, MGME1 (K17del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1916908	NM_052865.4(MGME1):c.49A>G (p.Lys17Glu)	LOC126862983, MGME1 (K17E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932286	NM_052865.4(MGME1):c.52T>C (p.Phe18Leu)	LOC126862983, MGME1 (F18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 984721	NM_052865.4(MGME1):c.55_57del (p.Ser19del)	LOC126862983, MGME1 (S19del)	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome 11 +1 more	GUncertain significance
Select item 2165318	NM_052865.4(MGME1):c.65C>A (p.Ser22Ter)	LOC126862983, MGME1 (S22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1951468	NM_052865.4(MGME1):c.71C>T (p.Ala24Val)	LOC126862983, MGME1 (A24V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2612115	NM_052865.4(MGME1):c.79G>A (p.Ala27Thr)	LOC126862983, MGME1 (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942428	NM_052865.4(MGME1):c.81T>G (p.Ala27=)	MGME1, LOC126862983	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235686	NM_052865.4(MGME1):c.86C>G (p.Ser29Cys)	LOC126862983, MGME1 (S29C)	Single nucleotide variant (missense variant)	MGME1-related disorder +2 more	GBenign/Likely benign
Select item 1941025	NM_052865.4(MGME1):c.99C>T (p.Tyr33=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503247	NM_052865.4(MGME1):c.103T>A (p.Cys35Ser)	LOC126862983, MGME1 (C35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170716	NM_052865.4(MGME1):c.109C>T (p.Arg37Trp)	LOC126862983, MGME1 (R37W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 385442	NM_052865.4(MGME1):c.114G>A (p.Lys38=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	MGME1-related disorder +1 more	GLikely benign
Select item 2812115	NM_052865.4(MGME1):c.129A>C (p.Pro43=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2468923	NM_052865.4(MGME1):c.131A>G (p.Tyr44Cys)	LOC126862983, MGME1 (Y44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1902149	NM_052865.4(MGME1):c.161_165del (p.Asn54fs)	LOC126862983, MGME1 (N54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2413720	NM_052865.4(MGME1):c.165A>C (p.Leu55Phe)	LOC126862983, MGME1 (L55F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006470	NM_052865.4(MGME1):c.168T>C (p.Val56=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003863	NM_052865.4(MGME1):c.173C>T (p.Ser58Phe)	LOC126862983, MGME1 (S58F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718131	NM_052865.4(MGME1):c.177C>G (p.Val59=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016368	NM_052865.4(MGME1):c.185C>T (p.Ser62Phe)	LOC126862983, MGME1 (S62F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433744	NM_052865.4(MGME1):c.203C>G (p.Thr68Ser)	MGME1, LOC126862983 (T68S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 11	GUncertain significance
Select item 2082870	NM_052865.4(MGME1):c.206C>T (p.Pro69Leu)	LOC126862983, MGME1 (P69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2214922	NM_052865.4(MGME1):c.209G>T (p.Gly70Val)	LOC126862983, MGME1 (G70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185004	NM_052865.4(MGME1):c.224A>G (p.Asp75Gly)	LOC126862983, MGME1 (D75G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705567	NM_052865.4(MGME1):c.228_231dup (p.Leu78fs)	LOC126862983, MGME1 (L78fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2163395	NM_052865.4(MGME1):c.234C>G (p.Leu78=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711756	NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)	LOC126862983, MGME1 (P81R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 380551	NM_052865.4(MGME1):c.270A>G (p.Gln90=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2115262	NM_052865.4(MGME1):c.272G>T (p.Gly91Val)	LOC126862983, MGME1 (G91V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720145	NM_052865.4(MGME1):c.283C>G (p.Arg95Gly)	MGME1, LOC126862983 (R95G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1452065	NM_052865.4(MGME1):c.291A>G (p.Pro97=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1902931	NM_052865.4(MGME1):c.314A>G (p.Asn105Ser)	LOC126862983, MGME1 (N105S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994316	NM_052865.4(MGME1):c.327_328dup (p.Asp110fs)	LOC126862983, MGME1 (D110fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2036628	NM_052865.4(MGME1):c.336A>G (p.Pro112=)	MGME1, LOC126862983	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916693	NM_052865.4(MGME1):c.347A>C (p.Asp116Ala)	LOC126862983, MGME1 (D116A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 428588	NM_052865.4(MGME1):c.359del (p.Pro120fs)	LOC126862983, MGME1 (P120fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 11	GPathogenic
Select item 1904654	NM_052865.4(MGME1):c.372C>G (p.Pro124=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987889	NM_052865.4(MGME1):c.376C>G (p.Gln126Glu)	LOC126862983, MGME1 (Q126E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2523822	NM_052865.4(MGME1):c.383A>C (p.Asn128Thr)	LOC126862983, MGME1 (N128T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1969120	NM_052865.4(MGME1):c.392C>A (p.Pro131Gln)	LOC126862983, MGME1 (P131Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3034415	NM_052865.4(MGME1):c.402C>G (p.Thr134=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant +1 more)	MGME1-related disorder	GLikely benign
Select item 2143542	NM_052865.4(MGME1):c.407T>C (p.Val136Ala)	LOC126862983, MGME1 (V136A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006884	NM_052865.4(MGME1):c.415C>T (p.Gln139Ter)	LOC126862983, MGME1 (Q139*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3125967	NM_052865.4(MGME1):c.435G>C (p.Gln145His)	LOC126862983, MGME1 (Q145H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1301200	NM_052865.4(MGME1):c.448G>A (p.Glu150Lys)	LOC126862983, MGME1 (E150K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 40051	NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)	LOC126862983, MGME1 (W152*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 11	GLikely pathogenic
Select item 2093459	NM_052865.4(MGME1):c.468G>A (p.Met156Ile)	LOC126862983, MGME1 (M156I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352210	NM_052865.4(MGME1):c.468G>T (p.Met156Ile)	LOC126862983, MGME1 (M156I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947907	NM_052865.4(MGME1):c.478C>G (p.Leu160Val)	LOC126862983, MGME1 (L160V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2300265	NM_052865.4(MGME1):c.506C>T (p.Thr169Ile)	LOC126862983, MGME1 (T169I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1247663	NM_052865.4(MGME1):c.511+124G>C	LOC126862983, MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228534	NM_052865.4(MGME1):c.512-137C>G	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208802	NM_052865.4(MGME1):c.512-116del	MGME1	Deletion (intron variant)	not provided	GLikely benign
Select item 1218912	NM_052865.4(MGME1):c.512-120A>G	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980355	NM_052865.4(MGME1):c.512-20T>C	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962706	NM_052865.4(MGME1):c.512-15del	MGME1	Deletion (intron variant)	not provided	GLikely benign
Select item 792342	NM_052865.4(MGME1):c.512-10T>C	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380093	NM_052865.4(MGME1):c.512-6T>C	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902738	NM_052865.4(MGME1):c.513C>T (p.Asn171=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 445604	NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)	MGME1 (R193W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1990815	NM_052865.4(MGME1):c.533G>A (p.Arg178Gln)	MGME1 (R178Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2533380	NM_052865.4(MGME1):c.541G>A (p.Glu181Lys)	MGME1 (E101K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125968	NM_052865.4(MGME1):c.543A>T (p.Glu181Asp)	MGME1 (E181D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2161400	NM_052865.4(MGME1):c.561T>G (p.Leu187=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 721648	NM_052865.4(MGME1):c.561T>C (p.Leu187=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056466	NM_052865.4(MGME1):c.563C>G (p.Ser188Ter)	MGME1 (S108* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1204680	NM_052865.4(MGME1):c.563_564delinsT (p.Ser188fs)	MGME1 (S108fs +2 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1914690	NM_052865.4(MGME1):c.566C>T (p.Pro189Leu)	MGME1 (P189L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 382958	NM_052865.4(MGME1):c.573A>G (p.Glu191=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2801039	NM_052865.4(MGME1):c.591T>C (p.Asp197=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579909	NM_052865.4(MGME1):c.626T>C (p.Val209Ala)	MGME1 (V129A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416894	NM_052865.4(MGME1):c.635T>C (p.Ile212Thr)	MGME1 (I132T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 725530	NM_052865.4(MGME1):c.645T>C (p.Asp215=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980952	NM_052865.4(MGME1):c.651T>C (p.Ser217=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940364	NM_052865.4(MGME1):c.658C>T (p.Arg220Ter)	MGME1 (R140* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1368309	NM_052865.4(MGME1):c.659G>A (p.Arg220Gln)	MGME1 (R220Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1985171	NM_052865.4(MGME1):c.663T>C (p.Ala221=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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