11232[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 146504	GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1	CEP95, DDX5 +22 more	Copy number loss	See cases	GUncertain significance
Select item 1178761	NC_000017.11:g.64477734A>G	MILR1, POLG2	Single nucleotide variant	not provided	GLikely benign
Select item 2899569	NM_007215.4(POLG2):c.1456T>C (p.Ter486Gln)	MILR1, POLG2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2016041	NM_007215.4(POLG2):c.1445C>T (p.Ala482Val)	MILR1, POLG2 (A482V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215027	NM_007215.4(POLG2):c.1444G>T (p.Ala482Ser)	MILR1, POLG2 (A482S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1367372	NM_007215.4(POLG2):c.1435A>G (p.Ile479Val)	MILR1, POLG2 (I479V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581649	NM_007215.4(POLG2):c.1431G>A (p.Lys477=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368016	NM_007215.4(POLG2):c.1425_1428del (p.Ile476fs)	MILR1, POLG2 (I476fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 40249	NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs)	POLG2, MILR1 (L475fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GPathogenic
Select item 215019	NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)	MILR1, POLG2 (D473N)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 2696677	NM_007215.4(POLG2):c.1401T>C (p.His467=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940670	NM_007215.4(POLG2):c.1386G>A (p.Met462Ile)	MILR1, POLG2 (M462I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953560	NM_007215.4(POLG2):c.1384A>G (p.Met462Val)	MILR1, POLG2 (M462V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939464	NM_007215.4(POLG2):c.1381A>G (p.Thr461Ala)	MILR1, POLG2 (T461A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089828	NM_007215.4(POLG2):c.1365G>T (p.Leu455=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343946	NM_007215.4(POLG2):c.1363C>A (p.Leu455Met)	MILR1, POLG2 (L455M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 5276	NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)	MILR1, POLG2 (G451E)	Single nucleotide variant (missense variant)	POLG2-related disorder	GLikely pathogenic
Select item 2861759	NM_007215.4(POLG2):c.1351G>C (p.Gly451Arg)	MILR1, POLG2 (G451R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074294	NM_007215.4(POLG2):c.1349A>C (p.Asn450Thr)	MILR1, POLG2 (N450T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632287	NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer)	MILR1, POLG2	Deletion (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 1933855	NM_007215.4(POLG2):c.1346A>C (p.Glu449Ala)	MILR1, POLG2 (E449A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069038	NM_007215.4(POLG2):c.1344G>T (p.Leu448Phe)	MILR1, POLG2 (L448F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190416	NM_007215.4(POLG2):c.1340C>G (p.Thr447Ser)	MILR1, POLG2 (T447S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168689	NM_007215.4(POLG2):c.1339A>G (p.Thr447Ala)	MILR1, POLG2 (T447A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993810	NM_007215.4(POLG2):c.1329T>C (p.Val443=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452769	NM_007215.4(POLG2):c.1324T>G (p.Leu442Val)	MILR1, POLG2 (L442V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546474	NM_007215.4(POLG2):c.1319C>T (p.Thr440Ile)	MILR1, POLG2 (T440I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663513	NM_007215.4(POLG2):c.1317C>T (p.Phe439=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889720	NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu)	MILR1, POLG2 (F439L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180427	NM_007215.4(POLG2):c.1297G>T (p.Asp433Tyr)	MILR1, POLG2	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987867	NM_007215.4(POLG2):c.1295A>G (p.Tyr432Cys)	MILR1, POLG2 (Y432C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215026	NM_007215.4(POLG2):c.1293G>C (p.Lys431Asn)	POLG2, MILR1 (K431N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667975	NM_007215.4(POLG2):c.1293-10T>A	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652163	NM_007215.4(POLG2):c.1293-13A>G	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673231	NM_007215.4(POLG2):c.1293-295_1293-293del	MILR1, POLG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1211240	NM_007215.4(POLG2):c.1292+35T>C	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967481	NM_007215.4(POLG2):c.1292+9T>C	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 973322	NM_007215.4(POLG2):c.1292A>G (p.Lys431Arg)	MILR1, POLG2 (K431R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1989385	NM_007215.4(POLG2):c.1290G>A (p.Ser430=)	POLG2, MILR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918749	NM_007215.4(POLG2):c.1289C>T (p.Ser430Leu)	MILR1, POLG2 (S430L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464414	NM_007215.4(POLG2):c.1282C>T (p.Leu428Phe)	MILR1, POLG2 (L428F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2760956	NM_007215.4(POLG2):c.1278A>T (p.Glu426Asp)	MILR1, POLG2 (E426D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018193	NM_007215.4(POLG2):c.1278A>G (p.Glu426=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944949	NM_007215.4(POLG2):c.1275G>A (p.Leu425=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626279	NM_007215.4(POLG2):c.1273T>C (p.Leu425=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318801	NM_007215.4(POLG2):c.1270T>C (p.Ser424Pro)	MILR1, POLG2 (S424P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138784	NM_007215.4(POLG2):c.1269C>T (p.Ser423=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +2 more	GBenign
Select item 218696	NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr)	POLG2, MILR1 (S423Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1440749	NM_007215.4(POLG2):c.1267T>G (p.Ser423Ala)	MILR1, POLG2 (S423A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445881	NM_007215.4(POLG2):c.1265A>C (p.Gln422Pro)	MILR1, POLG2 (Q422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206792	NM_007215.4(POLG2):c.1263G>A (p.Met421Ile)	MILR1, POLG2 (M421I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1347542	NM_007215.4(POLG2):c.1262T>C (p.Met421Thr)	MILR1, POLG2 (M421T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004020	NM_007215.4(POLG2):c.1260T>C (p.Thr420=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427819	NM_007215.4(POLG2):c.1255G>A (p.Glu419Lys)	MILR1, POLG2 (E419K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778882	NM_007215.4(POLG2):c.1248T>C (p.Gly416=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138783	NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)	MILR1, POLG2 (G416A)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +3 more	GBenign/Likely benign
Select item 2648097	NM_007215.4(POLG2):c.1233T>C (p.Ile411=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824321	NM_007215.4(POLG2):c.1230G>T (p.Gly410=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648098	NM_007215.4(POLG2):c.1219C>A (p.Leu407Ile)	MILR1, POLG2 (L407I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747667	NM_007215.4(POLG2):c.1219C>T (p.Leu407=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007031	NM_007215.4(POLG2):c.1217T>C (p.Leu406Ser)	POLG2, MILR1 (L406S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40246	NM_007215.4(POLG2):c.1207_1208insCTTTTCTAGGTTTGTCAAGGGCTA (p.Phe403delinsSerPheLeuGlyLeuSerArgAlaIle)	MILR1, POLG2	Insertion (inframe_indel)	Variant of unknown significance	GUncertain significance
Select item 2481048	NM_007215.4(POLG2):c.1207T>C (p.Phe403Leu)	MILR1, POLG2 (F403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1467539	NM_007215.4(POLG2):c.1203G>T (p.Gly401=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2816121	NM_007215.4(POLG2):c.1202G>A (p.Gly401Glu)	MILR1, POLG2 (G401E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077438	NM_007215.4(POLG2):c.1199A>T (p.Gln400Leu)	MILR1, POLG2 (Q400L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216331	NM_007215.4(POLG2):c.1196G>A (p.Cys399Tyr)	MILR1, POLG2 (C399Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807408	NM_007215.4(POLG2):c.1196G>T (p.Cys399Phe)	MILR1, POLG2 (C399F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450554	NM_007215.4(POLG2):c.1192-1G>T	MILR1, POLG2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 419486	NM_007215.4(POLG2):c.1192-6_1192-3del	MILR1, POLG2	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2795509	NM_007215.4(POLG2):c.1192-9dup	MILR1, POLG2	Duplication (intron variant)	not provided	GLikely benign
Select item 671672	NM_007215.4(POLG2):c.1192-132A>G	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204564	NM_007215.4(POLG2):c.1191+196C>T	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820113	NM_007215.4(POLG2):c.1191+10A>G	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260154	NM_007215.4(POLG2):c.1191+6dup	MILR1, POLG2	Duplication (intron variant)	Mitochondrial DNA depletion syndrome 16 (hepatic type) +5 more	GBenign
Select item 2954829	NM_007215.4(POLG2):c.1191+4A>T	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1318963	NM_007215.4(POLG2):c.1191+1G>A	MILR1, POLG2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1522816	NM_007215.4(POLG2):c.1191G>A (p.Gln397=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1350223	NM_007215.4(POLG2):c.1188_1191del (p.Gln397fs)	MILR1, POLG2 (Q397fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2580435	NM_007215.4(POLG2):c.1190A>T (p.Gln397Leu)	MILR1, POLG2 (Q397L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065651	NM_007215.4(POLG2):c.1189C>T (p.Gln397Ter)	MILR1, POLG2 (Q397*)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	GUncertain significance
Select item 1964748	NM_007215.4(POLG2):c.1189C>G (p.Gln397Glu)	MILR1, POLG2 (Q397E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666034	NM_007215.4(POLG2):c.1177T>C (p.Leu393=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977466	NM_007215.4(POLG2):c.1172C>T (p.Pro391Leu)	MILR1, POLG2 (P391L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917716	NM_007215.4(POLG2):c.1171C>A (p.Pro391Thr)	MILR1, POLG2 (P391T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2700764	NM_007215.4(POLG2):c.1169G>C (p.Gly390Ala)	MILR1, POLG2 (G390A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789860	NM_007215.4(POLG2):c.1161A>G (p.Val387=)	MILR1, POLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215018	NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu)	MILR1, POLG2 (D386E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1480739	NM_007215.4(POLG2):c.1151C>G (p.Ala384Gly)	MILR1, POLG2 (A384G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319050	NM_007215.4(POLG2):c.1144A>G (p.Lys382Glu)	MILR1, POLG2 (K382E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418549	NM_007215.4(POLG2):c.1141A>G (p.Ile381Val)	MILR1, POLG2 (I381V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341910	NM_007215.4(POLG2):c.1139C>T (p.Pro380Leu)	POLG2, MILR1 (P380L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717656	NM_007215.4(POLG2):c.1130G>A (p.Cys377Tyr)	MILR1, POLG2 (C377Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499184	NM_007215.4(POLG2):c.1124_1127del (p.His375fs)	MILR1, POLG2 (H375fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1413348	NM_007215.4(POLG2):c.1120C>T (p.Leu374Phe)	MILR1, POLG2 (L374F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036519	NM_007215.4(POLG2):c.1111-9T>C	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1426828	NM_007215.4(POLG2):c.1111-10A>G	MILR1, POLG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 513727	NM_007215.4(POLG2):c.1111-11A>C	POLG2, MILR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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