9183[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 2637435	NM_001379029.1(CERT1):c.96+19C>T	CERT1, POLK	Single nucleotide variant (intron variant)	not specified	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 738403	NM_001379029.1(CERT1):c.84G>T (p.Gly28=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	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 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 791532	NM_001379029.1(CERT1):c.6G>A (p.Ser2=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2655541	NM_001379029.1(CERT1):c.-52C>T	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 732405	NM_001379029.1(CERT1):c.-80C>T	CERT1, POLK (P102L)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 444654	NM_001379029.1(CERT1):c.-115G>C	CERT1, POLK	Single nucleotide variant (synonymous 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 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 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 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 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 689370	NM_001379029.1(CERT1):c.-162_-152del	CERT1, POLK (R75fs)	Deletion (frameshift variant +1 more)	not provided +3 more	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 716634	NM_001379029.1(CERT1):c.-168C>G	CERT1, POLK (R73G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 678851	NM_001379029.1(CERT1):c.-183G>T	CERT1, POLK (A68S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 1686558	NM_001379029.1(CERT1):c.-199CCT[1]	CERT1, POLK (L64del)	Microsatellite (inframe_deletion +1 more)	not specified	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 744616	NM_001379029.1(CERT1):c.-202C>T	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 871780	NM_001379029.1(CERT1):c.-213C>G	CERT1, POLK (P58A)	Single nucleotide variant (missense variant +1 more)	not provided	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 2664641	NM_001379029.1(CERT1):c.-226G>A	CERT1, POLK (W53*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2655543	NM_001379029.1(CERT1):c.-249_-241dup	CERT1, POLK	Duplication (inframe_insertion +1 more)	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 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 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 3250924	NM_001379029.1(CERT1):c.-251C>T	CERT1, POLK (A45V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 2655544	NM_001130105.1(CERT1):c.76G>A (p.Glu26Lys)	CERT1, POLK (E26K)	Single nucleotide variant (missense variant)	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 932621	NM_001130105.1(CERT1):c.56T>G (p.Phe19Cys)	CERT1, POLK (F19C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 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 2702621	NC_000005.10:g.75511819G>C	CERT1, LOC129994075 +1 more (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3216364	NM_016218.6(POLK):c.28A>C (p.Ser10Arg)	POLK (S10R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3216365	NM_016218.6(POLK):c.84G>T (p.Met28Ile)	POLK (M28I)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 218234	NM_016218.6(POLK):c.85G>A (p.Glu29Lys)	POLK (E29K)	Single nucleotide variant (5 prime UTR variant +3 more)	Malignant tumor of prostate +2 more	GConflicting classifications of pathogenicity
Select item 2392901	NM_016218.6(POLK):c.137G>A (p.Gly46Glu)	POLK (G46E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2313603	NM_016218.6(POLK):c.170A>G (p.Glu57Gly)	POLK (E57G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2300761	NM_016218.6(POLK):c.209A>G (p.Gln70Arg)	POLK (Q70R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386304	NM_016218.6(POLK):c.400A>G (p.Ser134Gly)	POLK (S68G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 218231	NM_016218.6(POLK):c.410C>T (p.Ser137Phe)	POLK (S137F +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate +1 more	GConflicting classifications of pathogenicity
Select item 2307429	NM_016218.6(POLK):c.422A>G (p.Tyr141Cys)	POLK (Y154C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218232	NM_016218.6(POLK):c.461G>A (p.Gly154Glu)	POLK (G154E +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218230	NM_016218.6(POLK):c.464T>C (p.Phe155Ser)	POLK (F155S +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218233	NM_016218.6(POLK):c.512T>C (p.Phe171Ser)	POLK (F171S +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 2307860	NM_016218.6(POLK):c.561T>G (p.Asp187Glu)	POLK (D121E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472587	NM_016218.6(POLK):c.608A>G (p.Asn203Ser)	POLK (N113S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489334	NM_016218.6(POLK):c.809A>G (p.Asn270Ser)	POLK (N270S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546779	NM_016218.6(POLK):c.850G>C (p.Val284Leu)	POLK (V194L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509126	NM_016218.6(POLK):c.1043A>G (p.Asp348Gly)	POLK (D258G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541549	NM_016218.6(POLK):c.1048C>T (p.Pro350Ser)	POLK (P284S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402678	NM_016218.6(POLK):c.1177C>T (p.His393Tyr)	POLK (H303Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218216	NM_016218.6(POLK):c.1256A>G (p.Glu419Gly)	POLK (E419G +6 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 3216359	NM_016218.6(POLK):c.1261A>G (p.Thr421Ala)	POLK (T355A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 218217	NM_016218.6(POLK):c.1284G>A (p.Ala428=)	POLK	Single nucleotide variant (synonymous variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218219	NM_016218.6(POLK):c.1289A>G (p.Glu430Gly)	POLK (E430G +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 2554490	NM_016218.6(POLK):c.1291C>A (p.Gln431Lys)	POLK (Q444K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218218	NM_016218.6(POLK):c.1324C>T (p.Leu442Phe)	POLK (L442F +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218220	NM_016218.6(POLK):c.1341G>A (p.Gln447=)	POLK	Single nucleotide variant (synonymous variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218221	NM_016218.6(POLK):c.1345G>A (p.Glu449Lys)	POLK (E449K +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 3216361	NM_016218.6(POLK):c.1373T>C (p.Ile458Thr)	POLK (I368T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218228	NM_016218.6(POLK):c.1381A>G (p.Lys461Glu)	POLK (K461E +7 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GPathogenic
Select item 2479488	NM_016218.6(POLK):c.1421T>C (p.Val474Ala)	POLK (V384A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218229	NM_016218.6(POLK):c.1460T>C (p.Ile487Thr)	POLK (I487T +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 2271369	NM_016218.6(POLK):c.1531G>A (p.Val511Ile)	POLK (V431I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467430	NM_016218.6(POLK):c.1573C>A (p.Gln525Lys)	POLK (Q522K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610209	NM_016218.6(POLK):c.1582A>G (p.Ser528Gly)	POLK (S438G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218224	NM_016218.6(POLK):c.1582A>T (p.Ser528Cys)	POLK (S528C +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218225	NM_016218.6(POLK):c.1652A>T (p.Asp551Val)	POLK (D551V +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 218226	NM_016218.6(POLK):c.1692G>A (p.Lys564=)	POLK	Single nucleotide variant (synonymous variant +1 more)	Malignant tumor of prostate	GPathogenic
Select item 2516099	NM_016218.6(POLK):c.1711A>G (p.Lys571Glu)	POLK (K491E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308480	NM_016218.6(POLK):c.1715G>C (p.Arg572Pro)	POLK (R521P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218227	NM_016218.6(POLK):c.1741G>A (p.Asp581Asn)	POLK (D581N +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GPathogenic

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