Related gene-specific medical variations for Gene (Select 10087) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361482	NM_001379029.1(CERT1):c.1424T>C (p.Ile475Thr)	CERT1 (I449T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360427	NM_001379029.1(CERT1):c.600AGA[1] (p.Glu201del)	CERT1 (E201del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3343349	NM_001130105.1(CERT1):c.37T>A (p.Phe13Ile)	CERT1, LOC129994075 +1 more (F13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266350	NM_001379029.1(CERT1):c.-189C>T	CERT1, POLK (R66C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266345	NM_001379029.1(CERT1):c.-89C>T	CERT1, POLK (S99F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3266344	NM_001379029.1(CERT1):c.-123C>G	CERT1, POLK (P88A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3266343	NM_001379029.1(CERT1):c.-172G>C	CERT1, POLK (Q71H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266342	NM_001379029.1(CERT1):c.-185C>T	CERT1, POLK (S67F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250924	NM_001379029.1(CERT1):c.-251C>T	CERT1, POLK (A45V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3143216	NM_001379029.1(CERT1):c.-297G>T	CERT1, POLK (G30W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143212	NM_001130105.1(CERT1):c.52G>C (p.Ala18Pro)	CERT1, POLK (A18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143210	NM_001379029.1(CERT1):c.64C>T (p.Pro22Ser)	CERT1, POLK (P150S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3143209	NM_001379029.1(CERT1):c.47C>T (p.Pro16Leu)	CERT1, POLK (P144L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143208	NM_001379029.1(CERT1):c.-15G>T	CERT1, POLK (G124C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143207	NM_001379029.1(CERT1):c.-63G>C	CERT1, POLK (G108R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143206	NM_001379029.1(CERT1):c.-68G>A	CERT1, POLK (G106E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143205	NM_001379029.1(CERT1):c.-78T>C	CERT1, POLK (S103P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143204	NM_001379029.1(CERT1):c.-108G>A	CERT1, POLK (A93T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143203	NM_001130105.1(CERT1):c.26C>T (p.Pro9Leu)	CERT1, LOC129994075 +1 more (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143202	NM_001379029.1(CERT1):c.-140C>T	CERT1, POLK (S82F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3143201	NM_001379029.1(CERT1):c.-150C>T	CERT1, POLK (R79W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143197	NM_001379029.1(CERT1):c.-221G>A	CERT1, POLK (G55D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3068266	NM_001379029.1(CERT1):c.1212C>G (p.His404Gln)	CERT1 (H378Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 3050781	NM_001379029.1(CERT1):c.-242C>T	CERT1, POLK (A48V)	Single nucleotide variant (missense variant +1 more)	CERT1-related disorder	GLikely benign
Select item 3039189	NM_001379029.1(CERT1):c.-255ACGGCG[3]	CERT1, POLK	Microsatellite (5 prime UTR variant)	CERT1-related disorder	GLikely benign
Select item 2702621	NC_000005.10:g.75511819G>C	CERT1, LOC129994075 +1 more (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688766	NM_001379029.1(CERT1):c.1201G>T (p.Val401Leu)	CERT1 (V375L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2664641	NM_001379029.1(CERT1):c.-226G>A	CERT1, POLK (W53*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2655544	NM_001130105.1(CERT1):c.76G>A (p.Glu26Lys)	CERT1, POLK (E26K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655543	NM_001379029.1(CERT1):c.-249_-241dup	CERT1, POLK	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2655542	NM_001379029.1(CERT1):c.-155G>A	CERT1, POLK (G77D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655541	NM_001379029.1(CERT1):c.-52C>T	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655540	NM_001379029.1(CERT1):c.85G>A (p.Val29Ile)	CERT1, POLK (V157I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2655534	NC_000005.10:g.75356949G>A	CERT1, HMGCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637435	NM_001379029.1(CERT1):c.96+19C>T	CERT1, POLK	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2580916	NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)	CERT1 (G243A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GLikely pathogenic
Select item 2578980	NC_000005.10:g.75357012C>T	CERT1, HMGCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2573778	NM_001130105.1(CERT1):c.3GCA[1] (p.Gln2del)	POLK, CERT1 +1 more (Q2del)	Microsatellite (initiator_codon_variant)	not provided	GUncertain significance
Select item 2504168	NM_001379029.1(CERT1):c.1367A>G (p.His456Arg)	CERT1 (H430R +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GLikely benign
Select item 2487325	NM_001379029.1(CERT1):c.-35C>T	CERT1, POLK (A117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481974	NM_001379029.1(CERT1):c.-245C>T	CERT1, POLK (A47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440317	NM_001379029.1(CERT1):c.734C>T (p.Ala245Val)	CERT1 (A245V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2440316	NM_001379029.1(CERT1):c.1073C>G (p.Ala358Gly)	CERT1 (A358G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2439922	NM_001379029.1(CERT1):c.-140C>A	CERT1, POLK (S82Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2439921	NM_001379029.1(CERT1):c.-41A>T	CERT1, POLK (E115V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2429059	NM_001379029.1(CERT1):c.-171G>A	CERT1, POLK (A72T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413112	NM_001379029.1(CERT1):c.-287C>T	CERT1, POLK (S33L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707616	NM_001130105.1(CERT1):c.67G>A (p.Val23Ile)	CERT1, POLK (V23I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1686558	NM_001379029.1(CERT1):c.-199CCT[1]	CERT1, POLK (L64del)	Microsatellite (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 1319303	NM_001379029.1(CERT1):c.1147C>G (p.Leu383Val)	CERT1 (L383V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 996843	NM_001379029.1(CERT1):c.-121del	CERT1, POLK (T89fs)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 996805	NM_001379029.1(CERT1):c.413C>T (p.Ser138Phe)	CERT1 (S138F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 977354	NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)	CERT1 (T166A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 975373	NM_001130105.1(CERT1):c.55T>G (p.Phe19Val)	CERT1, POLK (F19V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 932621	NM_001130105.1(CERT1):c.56T>G (p.Phe19Cys)	CERT1, POLK (F19C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 932620	NM_001379029.1(CERT1):c.1368T>A (p.His456Gln)	CERT1 (H430Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916272	NM_001379029.1(CERT1):c.-240G>T	CERT1, POLK (A49S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871780	NM_001379029.1(CERT1):c.-213C>G	CERT1, POLK (P58A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871779	NM_001379029.1(CERT1):c.-200T>C	CERT1, POLK (V62A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 791532	NM_001379029.1(CERT1):c.6G>A (p.Ser2=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749193	NM_001130105.1(CERT1):c.18C>T (p.Ile6=)	CERT1, LOC129994075 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 744616	NM_001379029.1(CERT1):c.-202C>T	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738403	NM_001379029.1(CERT1):c.84G>T (p.Gly28=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732405	NM_001379029.1(CERT1):c.-80C>T	CERT1, POLK (P102L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 728002	NM_001379029.1(CERT1):c.84G>C (p.Gly28=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716634	NM_001379029.1(CERT1):c.-168C>G	CERT1, POLK (R73G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 689370	NM_001379029.1(CERT1):c.-162_-152del	CERT1, POLK (R75fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 678851	NM_001379029.1(CERT1):c.-183G>T	CERT1, POLK (A68S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 548566	NM_001379029.1(CERT1):c.-114G>T	CERT1, POLK (E91*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 34	GPathogenic
Select item 521299	NM_001379029.1(CERT1):c.-75C>T	CERT1, POLK (P104S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 446020	NM_001379029.1(CERT1):c.-84G>A	CERT1, POLK (D101N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 444655	NM_001379029.1(CERT1):c.-205G>A	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444654	NM_001379029.1(CERT1):c.-115G>C	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 377275	NM_001379029.1(CERT1):c.370G>C (p.Glu124Gln)	CERT1 (E252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 74