"GeneDx"[submitter] AND "POLGARF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 619496	NM_002693.3(POLG):c.3643+48A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619495	NM_002693.3(POLG):c.3643+25A>G	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 817854	NM_002693.3(POLG):c.3568del (p.Arg1190fs)	POLG, POLGARF +1 more (R1190fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 383185	NM_002693.3(POLG):c.3527C>A (p.Ser1176Ter)	POLG, POLGARF (S1176*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 206569	NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu)	POLG, POLGARF (D1172E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 206616	NM_002693.3(POLG):c.3488T>C (p.Met1163Thr)	POLG, POLGARF (M1163T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 206615	NM_002693.3(POLG):c.3487A>G (p.Met1163Val)	POLG, POLGARF (M1163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259172	NM_002693.3(POLG):c.3483-236dup	POLG, POLGARF	Duplication (intron variant)	not provided	GBenign
Select item 1295798	NM_002693.3(POLG):c.3482+187dup	POLG, POLGARF	Duplication (intron variant)	not provided	GBenign
Select item 1307050	NM_002693.3(POLG):c.3463A>T (p.Ile1155Phe)	POLG, POLGARF (I1155F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422438	NM_002693.3(POLG):c.3424dup (p.Arg1142fs)	POLG, POLGARF (R1142fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 451063	NM_002693.3(POLG):c.3424C>G (p.Arg1142Gly)	POLG, POLGARF (R1142G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449715	NM_002693.3(POLG):c.3391A>C (p.Ile1131Leu)	POLG, POLGARF (I1131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391876	NM_002693.3(POLG):c.3340G>A (p.Val1114Met)	POLG, POLGARF (V1114M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510802	NM_002693.3(POLG):c.3333C>T (p.Leu1111=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 206614	NM_002693.3(POLG):c.3325T>G (p.Leu1109Val)	POLG, POLGARF (L1109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699813	NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys)	POLG, POLGARF (N1098K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 507851	NM_002693.3(POLG):c.3273+5C>T	POLGARF, POLG	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1308861	NM_002693.3(POLG):c.3259G>C (p.Ala1087Pro)	POLG, POLGARF (A1087P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381888	NM_002693.3(POLG):c.3234C>T (p.Cys1078=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 431888	NM_002693.3(POLG):c.3204C>A (p.Asp1068Glu)	POLGARF, POLG (D1068E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817632	NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs)	POLG, POLGARF (T1053fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1700270	NM_002693.3(POLG):c.3158C>T (p.Thr1053Ile)	POLG, POLGARF (T1053I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206547	NM_002693.3(POLG):c.3122G>C (p.Trp1041Ser)	POLG, POLGARF (W1041S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305030	NM_002693.3(POLG):c.3116A>G (p.Lys1039Arg)	POLG, POLGARF (K1039R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380436	NM_002693.3(POLG):c.3105-8T>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1321814	NM_002693.3(POLG):c.3105-12C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695631	NM_002693.3(POLG):c.3080A>T (p.Lys1027Met)	POLG, POLGARF (K1027M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418876	NM_002693.3(POLG):c.2982-1G>C	POLG, POLGARF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3252650	NM_002693.3(POLG):c.2982-10C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 680971	NM_002693.3(POLG):c.2982-331G>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680970	NM_002693.3(POLG):c.2982-332T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681000	NM_002693.3(POLG):c.2981+283A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667972	NM_002693.3(POLG):c.2981+206C>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291322	NM_002693.3(POLG):c.2981+116C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422473	NM_002693.3(POLG):c.2867G>A (p.Gly956Asp)	POLG, POLGARF (G956D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 206536	NM_002693.3(POLG):c.2840A>G (p.Lys947Arg)	POLG, POLGARF (K947R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 206607	NM_002693.3(POLG):c.2800_2801del (p.Lys934fs)	POLG, POLGARF (K934fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 206533	NM_002693.3(POLG):c.2749G>A (p.Gly917Arg)	POLG, POLGARF (G917R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 384369	NM_002693.3(POLG):c.2735-17T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 619386	NM_002693.3(POLG):c.2734+39_2734+40insAGGT	POLG, POLGARF	Insertion (intron variant)	not provided +2 more	GBenign
Select item 390351	NM_002693.3(POLG):c.2734+16G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 511753	NM_002693.3(POLG):c.2734+12_2734+13delinsG	POLG, POLGARF	Indel (intron variant)	not specified	GLikely benign
Select item 392282	NM_002693.3(POLG):c.2733T>G (p.His911Gln)	POLG, POLGARF (H911Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452303	NM_002693.3(POLG):c.2701G>A (p.Val901Met)	POLG, POLGARF (V901M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499892	NM_002693.3(POLG):c.2662G>C (p.Gly888Arg)	POLG, POLGARF (G888R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619371	NM_002693.3(POLG):c.2599-40G>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 1258739	NM_002693.3(POLG):c.2599-199C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305388	NM_002693.3(POLG):c.2590A>G (p.Asn864Asp)	POLG, POLGARF (N864D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206530	NM_002693.3(POLG):c.2561C>A (p.Ala854Asp)	POLG, POLGARF (A854D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 449141	NM_002693.3(POLG):c.2545A>G (p.Thr849Ala)	POLG, POLGARF (T849A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507855	NM_002693.3(POLG):c.2499G>A (p.Glu833=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1305554	NM_002693.3(POLG):c.2429C>T (p.Ser810Phe)	POLG, POLGARF (S810F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175664	NM_002693.3(POLG):c.2427-3C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385273	NM_002693.3(POLG):c.2427-18C>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 677351	NM_002693.3(POLG):c.2427-240C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680714	NM_002693.3(POLG):c.2426+281A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673064	NM_002693.3(POLG):c.2426+199C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432080	NM_002693.3(POLG):c.2383A>C (p.Asn795His)	POLG, POLGARF (N795H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1309963	NM_002693.3(POLG):c.2377G>A (p.Glu793Lys)	POLG, POLGARF (E793K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302467	NM_002693.3(POLG):c.2345G>A (p.Gly782Asp)	POLG, POLGARF (G782D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307394	NM_002693.3(POLG):c.2330G>C (p.Gly777Ala)	POLG, POLGARF (G777A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510841	NM_002693.3(POLG):c.2304G>A (p.Lys768=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1205741	NM_002693.3(POLG):c.2266-125_2266-124del	POLG, POLGARF	Deletion (intron variant)	not provided	GLikely benign
Select item 1244674	NM_002693.3(POLG):c.2266-143_2266-136del	POLG, POLGARF	Microsatellite (intron variant)	not provided	GBenign
Select item 1213612	NM_002693.3(POLG):c.2266-151C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667971	NM_002693.3(POLG):c.2266-153C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677350	NM_002693.3(POLG):c.2266-227A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 206521	NM_002693.3(POLG):c.2252A>G (p.Lys751Arg)	POLG, POLGARF (K751R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218066	NM_002693.3(POLG):c.2157+145G>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571859	NM_002693.3(POLG):c.2145A>G (p.Gln715=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1310862	NM_002693.3(POLG):c.2101G>C (p.Ala701Pro)	POLG, POLGARF (A701P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206610	NM_002693.3(POLG):c.2071-8T>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 449714	NM_002693.3(POLG):c.2071-9C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252277	NM_002693.3(POLG):c.2042T>C (p.Leu681Pro)	POLG, POLGARF (L681P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206505	NM_002693.3(POLG):c.2008C>T (p.Pro670Ser)	POLG, POLGARF (P670S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304988	NM_002693.3(POLG):c.1998G>C (p.Gln666His)	POLG, POLGARF (Q666H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514626	NM_002693.3(POLG):c.1952C>A (p.Ala651Asp)	POLG, POLGARF (A651D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 514296	NM_002693.3(POLG):c.1950-11T>C	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1264363	NM_002693.3(POLG):c.1950-166del	POLGARF, POLG	Deletion (intron variant)	not provided	GBenign
Select item 1205530	NM_002693.3(POLG):c.1950-196C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200492	NM_002693.3(POLG):c.1949+323ACTC[3]	POLG, POLGARF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1198600	NM_002693.3(POLG):c.1949+327A>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223795	NM_002693.3(POLG):c.1949+319_1949+322del	POLG, POLGARF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1206511	NM_002693.3(POLG):c.1949+305TC[2]	POLG, POLGARF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1197647	NM_002693.3(POLG):c.1949+243_1949+246del	POLG, POLGARF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1202046	NM_002693.3(POLG):c.1949+227_1949+230del	POLG, POLGARF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1203469	NM_002693.3(POLG):c.1949+213TC[2]	POLG, POLGARF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1240951	NM_002693.3(POLG):c.1949+203_1949+204del	POLG, POLGARF	Deletion (intron variant)	not provided	GBenign
Select item 1211681	NM_002693.3(POLG):c.1949+203A>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275591	NM_002693.3(POLG):c.1949+191_1949+200del	POLG, POLGARF	Deletion (intron variant)	not provided	GBenign
Select item 1298159	NM_002693.3(POLG):c.1949+197_1949+198insTT	POLG, POLGARF	Insertion (intron variant)	not provided	GBenign
Select item 1218315	NM_002693.3(POLG):c.1949+191_1949+198del	POLG, POLGARF	Deletion (intron variant)	not provided	GLikely benign
Select item 1198654	NM_002693.3(POLG):c.1949+198C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198924	NM_002693.3(POLG):c.1949+193T>C	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212246	NM_002693.3(POLG):c.1949+191A>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200555	NM_002693.3(POLG):c.1949+185T>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293124	NM_002693.3(POLG):c.1949+175T>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426198	NM_002693.3(POLG):c.1787T>C (p.Met596Thr)	POLG, POLGARF (M596T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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