"PreventionGenetics, part of Exact Sciences"[submitter] AND "MECOM"[ge - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031347	NM_004991.4(MECOM):c.*1C>A	MECOM	Single nucleotide variant (3 prime UTR variant)	MECOM-related disorder	GLikely benign
Select item 2634764	NM_004991.4(MECOM):c.3585+3A>G	MECOM	Single nucleotide variant (intron variant)	MECOM-related disorder +1 more	GUncertain significance
Select item 2913796	NM_004991.4(MECOM):c.3561G>A (p.Pro1187=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2632677	NM_004991.4(MECOM):c.3458T>G (p.Phe1153Cys)	MECOM (F1030C +8 more)	Single nucleotide variant (missense variant)	MECOM-related disorder	GUncertain significance
Select item 2079139	NM_004991.4(MECOM):c.3448A>G (p.Ile1150Val)	MECOM (I629V +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2077252	NM_004991.4(MECOM):c.3383G>A (p.Cys1128Tyr)	MECOM (C1128Y +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2887359	NM_004991.4(MECOM):c.3116T>C (p.Ile1039Thr)	MECOM (I1030T +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2084921	NM_004991.4(MECOM):c.3033G>A (p.Ser1011=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036663	NM_004991.4(MECOM):c.2892G>A (p.Leu964=)	MECOM	Single nucleotide variant (synonymous variant)	MECOM-related disorder	GLikely benign
Select item 2044942	NM_004991.4(MECOM):c.2772-7A>G	MECOM	Single nucleotide variant (intron variant)	MECOM-related disorder +1 more	GBenign/Likely benign
Select item 2629720	NM_004991.4(MECOM):c.2604+1G>A	MECOM	Single nucleotide variant (splice donor variant +1 more)	MECOM-related disorder	GUncertain significance
Select item 1337491	NM_004991.4(MECOM):c.2590G>A (p.Asp864Asn)	MECOM (D676N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3043154	NM_004991.4(MECOM):c.2478C>T (p.Asp826=)	MECOM	Single nucleotide variant (synonymous variant)	MECOM-related disorder	GLikely benign
Select item 3038253	NM_004991.4(MECOM):c.2412C>T (p.Asn804=)	MECOM	Single nucleotide variant (synonymous variant)	MECOM-related disorder	GLikely benign
Select item 2631924	NM_004991.4(MECOM):c.2338A>G (p.Arg780Gly)	MECOM (R268G +5 more)	Single nucleotide variant (missense variant)	MECOM-related disorder +1 more	GUncertain significance
Select item 2084180	NM_004991.4(MECOM):c.2172C>T (p.Pro724=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 721960	NM_004991.4(MECOM):c.1707C>A (p.Pro569=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2400555	NM_004991.4(MECOM):c.1684G>A (p.Glu562Lys)	MECOM (E375K +3 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder +1 more	GUncertain significance
Select item 3060647	NM_004991.4(MECOM):c.1532C>T (p.Pro511Leu)	MECOM (P323L +3 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder	GUncertain significance
Select item 3047015	NM_004991.4(MECOM):c.1478G>T (p.Gly493Val)	MECOM (G305V +3 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder	GUncertain significance
Select item 3050465	NM_004991.4(MECOM):c.1440C>G (p.Thr480=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	MECOM-related disorder	GLikely benign
Select item 2067643	NM_004991.4(MECOM):c.1392G>A (p.Pro464=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2354095	NM_004991.4(MECOM):c.1391C>T (p.Pro464Leu)	MECOM (P276L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1337750	NM_004991.4(MECOM):c.1355A>C (p.Asp452Ala)	MECOM (D264A +3 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3029973	NM_004991.4(MECOM):c.1068G>A (p.Thr356=)	MECOM	Single nucleotide variant (synonymous variant)	MECOM-related disorder	GLikely benign
Select item 3036002	NM_004991.4(MECOM):c.1017C>T (p.Arg339=)	MECOM	Single nucleotide variant (synonymous variant)	MECOM-related disorder	GLikely benign
Select item 2419272	NM_004991.4(MECOM):c.840A>T (p.Lys280Asn)	MECOM (K156N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 719088	NM_004991.4(MECOM):c.822T>C (p.Asp274=)	MECOM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 722182	NM_004991.4(MECOM):c.756C>T (p.Ser252=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2956460	NM_004991.4(MECOM):c.603G>A (p.Pro201=)	MECOM	Single nucleotide variant (synonymous variant)	MECOM-related disorder +1 more	GLikely benign
Select item 3038627	NM_004991.4(MECOM):c.543G>A (p.Pro181=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	MECOM-related disorder	GLikely benign
Select item 3030537	NM_004991.4(MECOM):c.465C>T (p.Gly155=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	MECOM-related disorder	GLikely benign
Select item 3055663	NM_004991.4(MECOM):c.460G>T (p.Ala154Ser)	MECOM (A154S +1 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder	GBenign
Select item 3049181	NM_004991.4(MECOM):c.459C>A (p.Phe153Leu)	MECOM (F153L +1 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder	GLikely benign
Select item 2628564	NM_004991.4(MECOM):c.451A>G (p.Ile151Val)	MECOM (I151V +1 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder	GUncertain significance
Select item 2629039	NM_004991.4(MECOM):c.427G>A (p.Asp143Asn)	MECOM (D143N +1 more)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder +1 more	GUncertain significance
Select item 3044816	NM_004991.4(MECOM):c.288C>T (p.Thr96=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	MECOM-related disorder	GLikely benign
Select item 3057726	NM_004991.4(MECOM):c.273A>G (p.Gly91=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	MECOM-related disorder	GLikely benign
Select item 3034692	NM_004991.4(MECOM):c.188C>G (p.Pro63Arg)	MECOM (P63R)	Single nucleotide variant (missense variant +1 more)	MECOM-related disorder	GLikely benign
Select item 1285012	NM_004991.4(MECOM):c.180G>A (p.Glu60=)	MECOM	Single nucleotide variant (synonymous variant +1 more)	MECOM-related disorder	GLikely benign

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Items: 40