5428[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	ABHD2, ACAN +311 more	Copy number gain	See cases	GPathogenic
Select item 595846	NM_000326.5(RLBP1):c.504_508del (p.Ser168fs)	POLG, RLBP1 (S168fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 417426	NC_000015.10:g.(?_89247629)_(89317131_?)del	FANCI, POLG +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 317299	NM_001113378.2(FANCI):c.3816+15A>T	FANCI, POLG	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 257489	NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)	FANCI, POLG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 317302	NM_001113378.2(FANCI):c.3925-84_3925-81dup	FANCI, POLG	Duplication (intron variant)	Fanconi anemia +1 more	GUncertain significance
Select item 885823	NM_001113378.2(FANCI):c.3925-80G>A	FANCI, POLG	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 885824	NM_002693.3(POLG):c.*420A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 2904243	NM_001113378.2(FANCI):c.3925-15_3925-11dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2870404	NM_001113378.2(FANCI):c.3925-13_3925-10dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2786989	NM_001113378.2(FANCI):c.3925-17A>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1598186	NM_001113378.2(FANCI):c.3925-17A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2980335	NM_001113378.2(FANCI):c.3925-14C>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2975198	NM_001113378.2(FANCI):c.3925-14C>T	FANCI, POLG +1 more	Single nucleotide variant (intron variant +1 more)	Fanconi anemia	GLikely benign
Select item 1599622	NM_001113378.2(FANCI):c.3925-14C>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GBenign
Select item 2184986	NM_001113378.2(FANCI):c.3925-11del	POLGARF, FANCI +1 more	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2021897	NM_001113378.2(FANCI):c.3925-7del	FANCI, POLG +1 more	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GBenign
Select item 1662215	NM_001113378.2(FANCI):c.3925-10C>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1350581	NM_001113378.2(FANCI):c.3925-10_3935inv	FANCI, POLG +1 more	Inversion (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1129427	NM_001113378.2(FANCI):c.3925-9C>T	POLG, FANCI +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1138647	NM_001113378.2(FANCI):c.3925-7C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2416139	NM_001113378.2(FANCI):c.3925-6T>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2905555	NM_001113378.2(FANCI):c.3925-5T>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 238327	NM_001113378.2(FANCI):c.3925-4C>T	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1474685	NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser)	FANCI, POLG +1 more (G1249S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 929719	NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del)	FANCI, POLG +1 more	Deletion (stop lost +2 more)	Fanconi anemia complementation group I	GPathogenic
Select item 1373247	NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1366932	NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)	FANCI, POLG +1 more (A1251S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 2180086	NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 408231	NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)	FANCI, POLG +1 more (G1316R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 456221	NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu)	FANCI, POLG +1 more (G1316E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1337528	NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1012862	NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter)	FANCI, POLG +1 more (Q1224* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1139939	NM_001113378.2(FANCI):c.3954C>T (p.Asn1318=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1468139	NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs)	POLGARF, POLG +1 more (K1226fs +2 more)	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 660392	NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val)	FANCI, POLG +1 more (A1262V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2152969	NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1461422	NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg)	FANCI, POLG +1 more (K1231R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1447764	NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)	FANCI, POLG +1 more (K1235fs +2 more)	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2842784	NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)	POLGARF, FANCI +1 more (R1266T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 648407	NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met)	FANCI, POLG +1 more (R1266M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2173973	NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)	FANCI, POLG +1 more	Duplication (frameshift variant +2 more)	Fanconi anemia	GUncertain significance
Select item 2714432	NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2143809	NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329_Ter(1329_?)(?))	FANCI, POLG +1 more	Duplication (frameshift variant +2 more)	Fanconi anemia	GUncertain significance
Select item 933992	NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn)	POLG, POLGARF +1 more (K1268N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 997490	NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 317304	NM_002693.3(POLG):c.*122G>A	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 886829	NM_002693.3(POLG):c.*100G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 317305	NM_002693.3(POLG):c.*63A>G	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-Related Spectrum Disorders +1 more	GUncertain significance
Select item 317306	NM_002693.3(POLG):c.*49dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant)	POLG-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 317308	NM_002693.3(POLG):c.*49G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317309	NM_002693.3(POLG):c.*44G>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 3054030	NM_002693.3(POLG):c.*42C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder	GLikely benign
Select item 317310	NM_002693.3(POLG):c.*30G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 206491	NM_002693.3(POLG):c.*12G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 382341	NM_002693.3(POLG):c.*4T>C	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1488683	NM_002693.3(POLG):c.3720G>A (p.Ter1240=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1466528	NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr)	FANCI, POLG +1 more	Single nucleotide variant (stop lost +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1930986	NM_002693.3(POLG):c.3717A>G (p.Pro1239=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2723622	NM_002693.3(POLG):c.3716C>T (p.Pro1239Leu)	FANCI, POLG +1 more (P1239L)	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 528384	NM_002693.3(POLG):c.3716del (p.Pro1239fs)	FANCI, POLG +1 more (P1239fs)	Deletion (frameshift variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1878842	NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr)	FANCI, POLG +1 more (P1239T)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 2972711	NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)	FANCI, POLG +1 more (G1238A)	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 576761	NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg)	FANCI, POLG +1 more (G1238R)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2838823	NM_002693.3(POLG):c.3711T>C (p.Pro1237=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1560660	NM_002693.3(POLG):c.3711T>G (p.Pro1237=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1353105	NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu)	FANCI, POLG +1 more (P1237L)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +12 more	GBenign/Likely benign
Select item 2425713	NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter)	FANCI, POLG +1 more (Q1236*)	Single nucleotide variant (nonsense +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2799126	NM_002693.3(POLG):c.3705C>T (p.Ser1235=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2482465	NM_002693.3(POLG):c.3705C>G (p.Ser1235Arg)	FANCI, POLG +1 more (S1235R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435150	NM_002693.3(POLG):c.3701dup (p.Ser1235fs)	FANCI, POLG +1 more (S1235fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 945006	NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs)	FANCI, POLG +1 more (S1235fs)	Insertion (frameshift variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1338879	NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro)	POLGARF, FANCI +1 more (R1234P)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 206490	NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)	FANCI, POLG +1 more (R1234Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1449246	NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter)	FANCI, POLG +1 more (R1234*)	Single nucleotide variant (nonsense +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 317311	NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)	FANCI, POLG +1 more (R1234G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +3 more	GUncertain significance
Select item 138767	NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2743949	NM_002693.3(POLG):c.3699A>C (p.Lys1233Asn)	FANCI, POLG +1 more (K1233N)	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2907671	NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly)	FANCI, POLG +1 more (E1232G)	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2968380	NM_002693.3(POLG):c.3693G>A (p.Leu1231=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1632961	NM_002693.3(POLG):c.3691T>C (p.Leu1231=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1419036	NM_002693.3(POLG):c.3691T>G (p.Leu1231Val)	FANCI, POLG +1 more (L1231V)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1096337	NM_002693.3(POLG):c.3690C>T (p.Ser1230=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 961517	NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala)	FANCI, POLG +1 more (S1230A)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1514859	NM_002693.3(POLG):c.3687C>T (p.Gly1229=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2415416	NM_002693.3(POLG):c.3686G>T (p.Gly1229Val)	POLGARF, FANCI +1 more (G1229V)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2139522	NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala)	FANCI, POLG +1 more (G1229A)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 1525090	NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp)	FANCI, POLG +1 more (G1229D)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 805231	NM_002693.3(POLG):c.3683A>G (p.Lys1228Arg)	FANCI, POLG +1 more (K1228R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 598136	NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)	FANCI, POLG +1 more (T1227N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2570908	NM_002693.3(POLG):c.3677T>A (p.Leu1226His)	FANCI, POLG +1 more (L1226H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

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