56521[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 1286374	NM_021800.3(DNAJC12):c.*142A>G	DNAJC12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1221004	NM_021800.3(DNAJC12):c.*72T>C	DNAJC12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 694072	NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu)	DNAJC12	Single nucleotide variant (stop lost)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 1926731	NM_021800.3(DNAJC12):c.592A>C (p.Ile198Leu)	DNAJC12 (I198L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470741	NM_021800.3(DNAJC12):c.589G>A (p.Glu197Lys)	DNAJC12 (E197K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 764777	NM_021800.3(DNAJC12):c.579C>T (p.Phe193=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465089	NM_021800.3(DNAJC12):c.572G>C (p.Arg191Thr)	DNAJC12 (R191T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084455	NM_021800.3(DNAJC12):c.542G>C (p.Trp181Ser)	DNAJC12 (W181S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1435490	NM_021800.3(DNAJC12):c.539G>A (p.Arg180His)	DNAJC12 (R180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2683105	NM_021800.3(DNAJC12):c.538C>T (p.Arg180Cys)	DNAJC12 (R180C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870655	NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)	DNAJC12 (W175*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 1506337	NM_021800.3(DNAJC12):c.517A>G (p.Asn173Asp)	DNAJC12 (N173D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1969453	NM_021800.3(DNAJC12):c.503G>T (p.Gly168Val)	DNAJC12 (G168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547037	NM_021800.3(DNAJC12):c.503-12_503-9del	DNAJC12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291651	NM_021800.3(DNAJC12):c.503-277T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 393301	NM_021800.3(DNAJC12):c.298-968_503-2603del	DNAJC12	Deletion (splice acceptor variant +1 more)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 1282692	NM_021800.3(DNAJC12):c.502+132A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228916	NM_021800.3(DNAJC12):c.502+114T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280177	NM_021800.3(DNAJC12):c.502+51T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669007	NM_021800.3(DNAJC12):c.502+19C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634241	NM_021800.3(DNAJC12):c.502+19C>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718499	NM_021800.3(DNAJC12):c.502+9C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1457343	NM_021800.3(DNAJC12):c.502+1G>A	DNAJC12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 870654	NM_021800.3(DNAJC12):c.502+1G>C	DNAJC12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2990876	NM_021800.3(DNAJC12):c.484C>T (p.Gln162Ter)	DNAJC12 (Q162*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1542173	NM_021800.3(DNAJC12):c.483G>A (p.Pro161=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273066	NM_021800.3(DNAJC12):c.481C>A (p.Pro161Thr)	DNAJC12 (P161T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347945	NM_021800.3(DNAJC12):c.479C>T (p.Ser160Phe)	DNAJC12 (S160F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2714616	NM_021800.3(DNAJC12):c.477C>G (p.Val159=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806486	NM_021800.3(DNAJC12):c.461C>A (p.Pro154His)	DNAJC12 (P154H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925207	NM_021800.3(DNAJC12):c.442G>A (p.Glu148Lys)	DNAJC12 (E148K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1346778	NM_021800.3(DNAJC12):c.430G>T (p.Ala144Ser)	DNAJC12 (A144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 785319	NM_021800.3(DNAJC12):c.430G>A (p.Ala144Thr)	DNAJC12 (A144T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2056666	NM_021800.3(DNAJC12):c.416A>G (p.Glu139Gly)	DNAJC12 (E139G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185914	NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)	DNAJC12 (K137fs)	Microsatellite (frameshift variant)	Hyperphenylalaninemia due to DNAJC12 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2120426	NM_021800.3(DNAJC12):c.403A>G (p.Arg135Gly)	DNAJC12 (R135G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273065	NM_021800.3(DNAJC12):c.398G>A (p.Arg133Lys)	DNAJC12 (R133K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553893	NM_021800.3(DNAJC12):c.398G>T (p.Arg133Ile)	DNAJC12 (R133I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872697	NM_021800.3(DNAJC12):c.395A>G (p.Gln132Arg)	DNAJC12 (Q132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768367	NM_021800.3(DNAJC12):c.387T>G (p.Cys129Trp)	DNAJC12 (C129W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768368	NM_021800.3(DNAJC12):c.372G>T (p.Met124Ile)	DNAJC12 (M124I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2990146	NM_021800.3(DNAJC12):c.360T>C (p.His120=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683106	NM_021800.3(DNAJC12):c.347C>A (p.Ser116Tyr)	DNAJC12 (S116Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870656	NM_021800.3(DNAJC12):c.309G>T (p.Trp103Cys)	DNAJC12 (W103C)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 2855552	NM_021800.3(DNAJC12):c.304C>T (p.His102Tyr)	DNAJC12 (H102Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870653	NM_021800.3(DNAJC12):c.298-2A>C	DNAJC12	Single nucleotide variant (splice acceptor variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 1927190	NM_021800.3(DNAJC12):c.298-16C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228286	NM_021800.3(DNAJC12):c.298-266G>A	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879132	NM_021800.3(DNAJC12):c.297+21G>A	DNAJC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1634242	NM_021800.3(DNAJC12):c.297+20C>T	DNAJC12 (A106V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1170480	NM_021800.3(DNAJC12):c.297+18T>G	DNAJC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1535233	NM_021800.3(DNAJC12):c.297+16G>A	DNAJC12 (G105S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1897576	NM_021800.3(DNAJC12):c.297+12G>A	DNAJC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182076	NM_021800.3(DNAJC12):c.297+4G>C	DNAJC12 (G101R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002969	NM_021800.3(DNAJC12):c.291G>A (p.Val97=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416298	NM_021800.3(DNAJC12):c.285C>A (p.Asp95Glu)	DNAJC12 (D95E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640518	NM_021800.3(DNAJC12):c.252G>C (p.Ser84=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560396	NM_021800.3(DNAJC12):c.252G>A (p.Ser84=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2147796	NM_021800.3(DNAJC12):c.251C>G (p.Ser84Trp)	DNAJC12 (S84W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520865	NM_021800.3(DNAJC12):c.245A>G (p.Gln82Arg)	DNAJC12 (Q82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169625	NM_021800.3(DNAJC12):c.243C>T (p.Ser81=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758174	NM_021800.3(DNAJC12):c.237A>G (p.Arg79=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1921406	NM_021800.3(DNAJC12):c.235C>T (p.Arg79Ter)	DNAJC12 (R79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2050920	NM_021800.3(DNAJC12):c.229C>T (p.His77Tyr)	DNAJC12 (H77Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305071	NM_021800.3(DNAJC12):c.224A>G (p.Tyr75Cys)	DNAJC12 (Y75C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1510006	NM_021800.3(DNAJC12):c.221G>A (p.Arg74His)	DNAJC12 (R74H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356850	NM_021800.3(DNAJC12):c.221G>T (p.Arg74Leu)	DNAJC12 (R74L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493834	NM_021800.3(DNAJC12):c.220C>T (p.Arg74Cys)	DNAJC12 (R74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432283	NM_021800.3(DNAJC12):c.218C>T (p.Ala73Val)	DNAJC12 (A73V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416344	NM_021800.3(DNAJC12):c.218C>G (p.Ala73Gly)	DNAJC12 (A73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 393302	NM_021800.3(DNAJC12):c.215G>C (p.Arg72Pro)	DNAJC12 (R72P)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 694073	NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)	DNAJC12 (R72*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 694074	NM_021800.3(DNAJC12):c.187A>T (p.Lys63Ter)	DNAJC12 (K63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1308740	NM_021800.3(DNAJC12):c.164C>T (p.Thr55Ile)	DNAJC12 (T55I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764683	NM_021800.3(DNAJC12):c.162G>A (p.Glu54=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 393303	NM_021800.3(DNAJC12):c.158-2A>T	DNAJC12	Single nucleotide variant (splice acceptor variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 1664665	NM_021800.3(DNAJC12):c.158-13A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261797	NM_021800.3(DNAJC12):c.157+135A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1666421	NM_021800.3(DNAJC12):c.157+11A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1432906	NM_021800.3(DNAJC12):c.157+5G>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2005477	NM_021800.3(DNAJC12):c.140C>A (p.Pro47His)	DNAJC12 (P47H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802579	NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)	DNAJC12 (H42Y)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GUncertain significance
Select item 716805	NM_021800.3(DNAJC12):c.115C>T (p.Leu39=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694071	NM_021800.3(DNAJC12):c.85del (p.Gln29fs)	DNAJC12 (Q29fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 694075	NM_021800.3(DNAJC12):c.79-2A>G	DNAJC12	Single nucleotide variant (splice acceptor variant)	Hyperphenylalaninemia due to DNAJC12 deficiency	GPathogenic
Select item 1599935	NM_021800.3(DNAJC12):c.79-8dup	DNAJC12	Duplication (intron variant)	not provided	GBenign
Select item 786161	NM_021800.3(DNAJC12):c.79-9T>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2852807	NM_021800.3(DNAJC12):c.79-13A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958590	NM_021800.3(DNAJC12):c.79-17A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564371	NM_021800.3(DNAJC12):c.79-20A>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238074	NM_021800.3(DNAJC12):c.79-56C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220673	NM_021800.3(DNAJC12):c.79-250T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284055	NM_021800.3(DNAJC12):c.79-269C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1535748	NM_021800.3(DNAJC12):c.78+19T>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GLikely benign

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