204[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 18250	NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)	AK2 (S165fs +3 more)	Deletion (frameshift variant +3 more)	Reticular dysgenesis	GPathogenic
Select item 1262330	NM_001625.4(AK2):c.*2637A>G	AK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1326153	NM_001625.4(AK2):c.*2432G>A	AK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1321825	NM_001625.4(AK2):c.*2379C>T	AK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 402355	NM_001625.4(AK2):c.*2347G>T	AK2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1246813	NM_001625.4(AK2):c.*2055C>T	AK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 657641	NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa)	AK2	Deletion (stop lost +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1232355	NM_001625.4(AK2):c.*179TG[8]	AK2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3054113	NM_001625.4(AK2):c.*2G>A	AK2	Single nucleotide variant (3 prime UTR variant +1 more)	AK2-related condition	GLikely benign
Select item 655501	NM_001625.4(AK2):c.720A>G (p.Ter240=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1384263	NM_001625.4(AK2):c.714dup (p.Ile239fs)	AK2 (I191fs +1 more)	Duplication (frameshift variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1397284	NM_001625.4(AK2):c.708_710dup (p.Val236_Met237insIle)	AK2	Duplication (inframe_insertion +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1465273	NM_001625.4(AK2):c.710T>C (p.Met237Thr)	AK2 (M237T +1 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 2878272	NM_001625.4(AK2):c.698_703delinsGACACATAAACATAAACATAAACTCA (p.Lys233fs)	AK2 (K185fs +1 more)	Indel (frameshift variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 18261	NM_001625.4(AK2):c.697A>T (p.Lys233Ter)	AK2 (K233* +1 more)	Single nucleotide variant (nonsense +2 more)	Reticular dysgenesis	GPathogenic
Select item 567959	NM_001625.4(AK2):c.670C>G (p.Leu224Val)	AK2 (L224V +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1524282	NM_001625.4(AK2):c.661G>A (p.Ala221Thr)	AK2 (A179T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1153957	NM_001625.4(AK2):c.660C>T (p.Phe220=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 593198	NM_001625.4(AK2):c.656del (p.Val219fs)	AK2 (V171fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 664531	NM_001625.4(AK2):c.655G>A (p.Val219Met)	AK2 (V171M +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1611690	NM_001625.4(AK2):c.654C>T (p.Val218=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1086743	NM_001625.4(AK2):c.648C>T (p.Pro216=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 738543	NM_001625.4(AK2):c.642G>A (p.Gln214=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GBenign
Select item 644601	NM_001625.4(AK2):c.638C>A (p.Ser213Tyr)	AK2 (S213Y +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1488022	NM_001625.4(AK2):c.634G>A (p.Ala212Thr)	AK2 (A164T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 578484	NM_001625.4(AK2):c.631G>A (p.Asp211Asn)	AK2 (D211N +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1015901	NM_001625.4(AK2):c.630C>G (p.Ile210Met)	AK2 (I162M +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 529735	NM_001625.4(AK2):c.630C>T (p.Ile210=)	AK2	Single nucleotide variant (synonymous variant +2 more)	AK2-related condition +1 more	GLikely benign
Select item 662703	NM_001625.4(AK2):c.625G>T (p.Ala209Ser)	AK2 (A201S +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 136327	NM_001625.4(AK2):c.625G>A (p.Ala209Thr)	AK2 (A209T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1089369	NM_001625.4(AK2):c.624C>T (p.Ser208=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2252607	NM_001625.4(AK2):c.622T>G (p.Ser208Ala)	AK2 (S166A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1001459	NM_001625.4(AK2):c.622T>C (p.Ser208Pro)	AK2 (S160P +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1067803	NM_001625.4(AK2):c.614_615del (p.Gly205fs)	AK2 (G157fs +3 more)	Deletion (frameshift variant +2 more)	Reticular dysgenesis	GLikely pathogenic
Select item 728081	NM_001625.4(AK2):c.615G>C (p.Gly205=)	AK2	Single nucleotide variant (synonymous variant +2 more)	AK2-related condition +1 more	GLikely benign
Select item 1205943	NM_001625.4(AK2):c.614G>A (p.Gly205Glu)	AK2 (G157E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1593206	NM_001625.4(AK2):c.611G>A (p.Arg204Gln)	AK2 (R156Q +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 998950	NM_001625.4(AK2):c.610C>T (p.Arg204Trp)	AK2 (R156W +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1519453	NM_001625.4(AK2):c.605G>C (p.Arg202Thr)	AK2 (R154T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 529738	NM_001625.4(AK2):c.603C>T (p.Tyr201=)	AK2	Single nucleotide variant (synonymous variant +2 more)	AK2-related condition +2 more	GLikely benign
Select item 1206282	NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)	AK2 (Y153F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1379433	NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter)	AK2 (Y158* +3 more)	Duplication (nonsense +2 more)	Reticular dysgenesis	GPathogenic
Select item 1301340	NM_001625.4(AK2):c.600C>G (p.Tyr200Ter)	AK2 (Y152* +3 more)	Single nucleotide variant (nonsense +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 702768	NM_001625.4(AK2):c.597G>A (p.Glu199=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GBenign
Select item 1169304	NM_001625.4(AK2):c.582C>T (p.Thr194=)	AK2	Single nucleotide variant (synonymous variant +2 more)	AK2-related condition +1 more	GBenign/Likely benign
Select item 1393470	NM_001625.4(AK2):c.580A>G (p.Thr194Ala)	AK2 (T146A +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1478579	NM_001625.4(AK2):c.575C>A (p.Thr192Asn)	AK2 (T144N +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 529737	NM_001625.4(AK2):c.571C>G (p.His191Asp)	AK2 (H191D +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GBenign
Select item 1052725	NM_001625.4(AK2):c.557G>A (p.Arg186His)	AK2 (R138H +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 18258	NM_001625.4(AK2):c.556C>T (p.Arg186Cys)	AK2 (R186C +3 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1351210	NM_001625.4(AK2):c.545C>T (p.Ala182Val)	AK2 (A182V +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 190980	NM_001625.4(AK2):c.545C>A (p.Ala182Asp)	AK2 (A182D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1599150	NM_001625.4(AK2):c.543G>C (p.Lys181Asn)	AK2 (K133N +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GBenign
Select item 450394	NM_001625.4(AK2):c.532G>A (p.Asp178Asn)	AK2 (D178N +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1017812	NM_001625.4(AK2):c.530A>G (p.Asp177Gly)	AK2 (D129G +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 836023	NM_001625.4(AK2):c.524G>C (p.Arg175Pro)	AK2 (R133P +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GLikely pathogenic
Select item 1027587	NM_001625.4(AK2):c.523C>G (p.Arg175Gly)	AK2 (R127G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 446366	NM_001625.4(AK2):c.523del (p.Arg175fs)	AK2 (R167fs +3 more)	Deletion (frameshift variant +2 more)	Reticular dysgenesis	GPathogenic
Select item 1449705	NM_001625.4(AK2):c.505G>A (p.Gly169Arg)	AK2 (G121R +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 529739	NM_001625.4(AK2):c.504C>T (p.Thr168=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1339681	NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs)	AK2 (I119fs +3 more)	Insertion (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1339680	NM_001625.4(AK2):c.498_499dup (p.Ile167fs)	AK2 (I119fs +3 more)	Insertion (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1138834	NM_001625.4(AK2):c.499-5C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1093105	NM_001625.4(AK2):c.499-8G>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1672490	NM_001625.4(AK2):c.499-11C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GBenign
Select item 1540466	NM_001625.4(AK2):c.499-13T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1287992	NM_001625.4(AK2):c.498+262A>G	AK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198996	NM_001625.4(AK2):c.498+137A>G	AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263649	NM_001625.4(AK2):c.498+42C>G	AK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740565	NM_001625.4(AK2):c.498+14G>A	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1983734	NM_001625.4(AK2):c.498+14G>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 18255	NM_001625.4(AK2):c.498+1G>A	AK2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease +1 more	GPathogenic
Select item 1384705	NM_001625.4(AK2):c.498C>T (p.Asp166=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 18256	NM_001625.4(AK2):c.494A>G (p.Asp165Gly)	AK2 (D165G +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GPathogenic
Select item 652357	NM_001625.4(AK2):c.488T>C (p.Met163Thr)	AK2 (M121T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1480201	NM_001625.4(AK2):c.472C>T (p.Pro158Ser)	AK2 (P150S +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 2192536	NM_001625.4(AK2):c.471C>T (p.Asn157=)	AK2 (P126S)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 654886	NM_001625.4(AK2):c.471C>G (p.Asn157Lys)	AK2 (N109K +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 643382	NM_001625.4(AK2):c.470A>G (p.Asn157Ser)	AK2 (N157S +3 more)	Single nucleotide variant (missense variant +2 more)	AK2-related condition +1 more	GUncertain significance
Select item 2872658	NM_001625.4(AK2):c.465G>A (p.Glu155=)	AK2 (V124I)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2090479	NM_001625.4(AK2):c.463G>A (p.Glu155Lys)	AK2 (E155K +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 659463	NM_001625.4(AK2):c.462G>T (p.Glu154Asp)	AK2 (E106D +4 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 702342	NM_001625.4(AK2):c.460G>A (p.Glu154Lys)	AK2 (E106K +4 more)	Single nucleotide variant (missense variant +1 more)	AK2-related condition +2 more	GBenign/Likely benign
Select item 581432	NM_001625.4(AK2):c.457C>G (p.His153Asp)	AK2 (H153D +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 2882624	NM_001625.4(AK2):c.453C>A (p.Ser151=)	AK2 (L120I)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 18254	NM_001625.4(AK2):c.453del (p.Tyr152fs)	AK2 (Y104fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 944021	NM_001625.4(AK2):c.449G>A (p.Arg150His)	AK2 (R142H +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1632785	NM_001625.4(AK2):c.438C>T (p.Pro146=)	AK2 (Q115*)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 839132	NM_001625.4(AK2):c.433C>G (p.His145Asp)	AK2 (H97D +4 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 2088527	NM_001625.4(AK2):c.432T>G (p.Ile144Met)	AK2 (I96M +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 1983658	NM_001625.4(AK2):c.429G>C (p.Leu143=)	AK2 (D112H)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2161671	NM_001625.4(AK2):c.426-17_426-14del	AK2	Deletion (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2188368	NM_001625.4(AK2):c.426-19T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1166849	NM_001625.4(AK2):c.426-20_426-19del	AK2	Microsatellite (intron variant)	Reticular dysgenesis	GBenign
Select item 1253318	NM_001625.4(AK2):c.426-169C>T	AK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199063	NM_001625.4(AK2):c.425+88C>T	AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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