"CPE-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628939	NM_001873.4(CPE):c.14G>T (p.Gly5Val)	CPE, LOC129993339 (G5V)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2591521	NM_001873.4(CPE):c.63G>T (p.Trp21Cys)	CPE, LOC129993339 (W21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3030491	NM_001873.4(CPE):c.66C>A (p.Leu22=)	CPE, LOC129993339	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 2629098	NM_001873.4(CPE):c.88C>G (p.Pro30Ala)	CPE (P30A)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 1610581	NM_001873.4(CPE):c.215C>T (p.Ala72Val)	CPE (A72V)	Single nucleotide variant (missense variant)	CPE-related disorder +1 more	GLikely benign
Select item 2634304	NM_001873.4(CPE):c.233C>A (p.Thr78Lys)	CPE (T78K)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3032802	NM_001873.4(CPE):c.277C>T (p.Leu93=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 2655171	NM_001873.4(CPE):c.417C>T (p.Asn139=)	CPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3057554	NM_001873.4(CPE):c.496G>A (p.Ala166Thr)	CPE (A166T)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3029146	NM_001873.4(CPE):c.497C>T (p.Ala166Val)	CPE (A166V)	Single nucleotide variant (missense variant)	CPE-related disorder +1 more	GUncertain significance
Select item 3044911	NM_001873.4(CPE):c.505-4_505-3del	CPE	Deletion (intron variant)	CPE-related disorder	GLikely benign
Select item 3054567	NM_001873.4(CPE):c.565C>T (p.Arg189Trp)	CPE (R189W)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3057502	NM_001873.4(CPE):c.590T>C (p.Ile197Thr)	CPE (I197T)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3060142	NM_001873.4(CPE):c.598G>A (p.Val200Met)	CPE (V200M)	Single nucleotide variant (missense variant)	CPE-related disorder	GLikely benign
Select item 3051295	NM_001873.4(CPE):c.600G>A (p.Val200=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 1533547	NM_001873.4(CPE):c.672+6G>A	CPE	Single nucleotide variant (intron variant)	CPE-related disorder +1 more	GBenign
Select item 3052180	NM_001873.4(CPE):c.692C>G (p.Ala231Gly)	CPE (A231G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2695602	NM_001873.4(CPE):c.696C>A (p.Val232=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder +1 more	GBenign/Likely benign
Select item 3054110	NM_001873.4(CPE):c.744T>C (p.His248=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 2912410	NM_001873.4(CPE):c.771A>G (p.Pro257=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder +1 more	GLikely benign
Select item 2160231	NM_001873.4(CPE):c.784C>T (p.Arg262Trp)	CPE (R262W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3036214	NM_001873.4(CPE):c.790+10C>T	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
Select item 2044776	NM_001873.4(CPE):c.811T>G (p.Ser271Ala)	CPE (S271A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2714897	NM_001873.4(CPE):c.825C>T (p.Asp275=)	CPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634297	NM_001873.4(CPE):c.836A>G (p.Gln279Arg)	CPE (Q279R)	Single nucleotide variant (missense variant)	CPE-related disorder +1 more	GUncertain significance
Select item 2636631	NM_001873.4(CPE):c.847C>T (p.Arg283Trp)	CPE (R283W)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2636600	NM_001873.4(CPE):c.881A>G (p.Asp294Gly)	CPE (D294G)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2456912	NM_001873.4(CPE):c.889C>T (p.Arg297Trp)	CPE (R297W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2631037	NM_001873.4(CPE):c.901C>T (p.Arg301Cys)	CPE (R301C)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2633526	NM_001873.4(CPE):c.911A>C (p.Asp304Ala)	CPE (D304A)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 2632387	NM_001873.4(CPE):c.938C>T (p.Thr313Ile)	CPE (T313I)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3032605	NM_001873.4(CPE):c.963C>T (p.Ser321=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 3031052	NM_001873.4(CPE):c.968C>T (p.Pro323Leu)	CPE (P323L)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 3034803	NM_001873.4(CPE):c.973+3G>A	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
Select item 2629962	NM_001873.4(CPE):c.974-3C>T	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GUncertain significance
Select item 3057680	NM_001873.4(CPE):c.1040A>G (p.Lys347Arg)	CPE (K347R)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 1609456	NM_001873.4(CPE):c.1138G>A (p.Val380Ile)	CPE (V380I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3032761	NM_001873.4(CPE):c.1152A>G (p.Gln384=)	CPE	Single nucleotide variant (synonymous variant)	CPE-related disorder	GLikely benign
Select item 1607228	NM_001873.4(CPE):c.1177A>G (p.Ile393Val)	CPE (I393V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2637119	NM_001873.4(CPE):c.1245A>G (p.Ile415Met)	CPE (I415M)	Single nucleotide variant (missense variant)	CPE-related disorder	GUncertain significance
Select item 707890	NM_001873.4(CPE):c.1268C>T (p.Ala423Val)	CPE (A423V)	Single nucleotide variant (missense variant)	CPE-related disorder +1 more	GBenign
Select item 2369508	NM_001873.4(CPE):c.1274C>T (p.Ala425Val)	CPE (A425V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1394547	NM_001873.4(CPE):c.1309G>A (p.Val437Ile)	CPE (V437I)	Single nucleotide variant (missense variant)	CPE-related disorder +2 more	GUncertain significance
Select item 2307498	NM_001873.4(CPE):c.1320C>G (p.Ser440Arg)	CPE (S440R)	Single nucleotide variant (missense variant)	CPE-related disorder +1 more	GUncertain significance
Select item 3029629	NM_001873.4(CPE):c.1332+10C>A	CPE	Single nucleotide variant (intron variant)	CPE-related disorder	GLikely benign
Select item 3036949	NM_001873.4(CPE):c.1366A>G (p.Lys456Glu)	CPE (K456E)	Single nucleotide variant (missense variant)	CPE-related disorder	GLikely benign
Select item 3041395	NM_001873.4(CPE):c.1394A>G (p.Glu465Gly)	CPE (E465G)	Single nucleotide variant (missense variant)	CPE-related disorder	GLikely benign

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Items: 47