30450[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 3175314	NM_145201.6(NAPRT):c.1586T>C (p.Val529Ala)	NAPRT (V502A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372797	NM_145201.6(NAPRT):c.1529G>A (p.Arg510Gln)	NAPRT (R497Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466623	NM_145201.6(NAPRT):c.1508G>A (p.Arg503Gln)	NAPRT (R275Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175306	NM_145201.6(NAPRT):c.1496T>A (p.Leu499Gln)	NAPRT (L271Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354303	NM_145201.6(NAPRT):c.1495C>A (p.Leu499Met)	NAPRT (L486M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206973	NM_145201.6(NAPRT):c.1454A>G (p.Glu485Gly)	NAPRT (E257G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780130	NM_145201.6(NAPRT):c.1447-7C>G	NAPRT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3298434	NM_145201.6(NAPRT):c.1424G>A (p.Arg475Gln)	NAPRT (R247Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347164	NM_145201.6(NAPRT):c.1393G>A (p.Val465Met)	NAPRT (V438M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535168	NM_145201.6(NAPRT):c.1307A>T (p.Asp436Val)	NAPRT (D208V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689526	NM_145201.6(NAPRT):c.1306del (p.Asp436fs)	NAPRT (D208fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3175297	NM_145201.6(NAPRT):c.1264G>A (p.Ala422Thr)	NAPRT (A395T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175295	NM_145201.6(NAPRT):c.1228G>A (p.Glu410Lys)	NAPRT (E182K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320790	NM_145201.6(NAPRT):c.1162C>G (p.Gln388Glu)	NAPRT (Q160E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218625	NM_145201.6(NAPRT):c.1094G>A (p.Arg365Gln)	NAPRT (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604405	NM_145201.6(NAPRT):c.1090G>A (p.Ala364Thr)	NAPRT (A364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486557	NM_145201.6(NAPRT):c.1081G>A (p.Glu361Lys)	NAPRT (E133K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271061	NM_145201.6(NAPRT):c.983C>A (p.Ala328Asp)	NAPRT (A328D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780131	NM_145201.6(NAPRT):c.960C>T (p.Asp320=)	NAPRT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3175401	NM_145201.6(NAPRT):c.943G>A (p.Val315Met)	NAPRT (V315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380935	NM_145201.6(NAPRT):c.935A>G (p.Tyr312Cys)	NAPRT (Y84C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175392	NM_145201.6(NAPRT):c.904G>A (p.Ala302Thr)	NAPRT (A74T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302850	NM_145201.6(NAPRT):c.896A>C (p.Asn299Thr)	NAPRT (N299T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175388	NM_145201.6(NAPRT):c.871A>G (p.Ser291Gly)	NAPRT (S63G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388415	NM_145201.6(NAPRT):c.842G>T (p.Arg281Leu)	NAPRT (R281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175386	NM_145201.6(NAPRT):c.841C>T (p.Arg281Trp)	NAPRT (R53W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591164	NM_145201.6(NAPRT):c.806G>A (p.Arg269Gln)	NAPRT (R269Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347082	NM_145201.6(NAPRT):c.728C>T (p.Ala243Val)	NAPRT (A243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330679	NM_145201.6(NAPRT):c.692C>T (p.Ala231Val)	NAPRT (A231V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228398	NM_145201.6(NAPRT):c.662G>A (p.Gly221Asp)	NAPRT (G221D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406261	NM_145201.6(NAPRT):c.641C>A (p.Ser214Tyr)	NAPRT (S214Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262028	NM_145201.6(NAPRT):c.608G>A (p.Arg203Gln)	NAPRT (R203Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597294	NM_145201.6(NAPRT):c.574G>A (p.Asp192Asn)	NAPRT (D192N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175363	NM_145201.6(NAPRT):c.551C>T (p.Thr184Ile)	NAPRT (T184I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311935	NM_145201.6(NAPRT):c.515G>A (p.Arg172Gln)	NAPRT (R172Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479482	NM_145201.6(NAPRT):c.475G>A (p.Ala159Thr)	NAPRT (A159T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314924	NM_145201.6(NAPRT):c.467G>T (p.Arg156Leu)	NAPRT (R156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387301	NM_145201.6(NAPRT):c.466C>T (p.Arg156Cys)	NAPRT (R156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175341	NM_145201.6(NAPRT):c.453C>G (p.Asn151Lys)	NAPRT (N151K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175334	NM_145201.6(NAPRT):c.422T>G (p.Leu141Arg)	NAPRT (L141R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1331004	NM_145201.6(NAPRT):c.413T>A (p.Leu138Gln)	NAPRT (L138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3175331	NM_145201.6(NAPRT):c.400C>G (p.Leu134Val)	NAPRT (L134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535564	NM_145201.6(NAPRT):c.383T>G (p.Leu128Arg)	NAPRT (L128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605261	NM_145201.6(NAPRT):c.379C>T (p.Pro127Ser)	NAPRT (P127S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175325	NM_145201.6(NAPRT):c.373T>G (p.Ser125Ala)	NAPRT (S125A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719974	NM_145201.6(NAPRT):c.351C>T (p.Pro117=)	NAPRT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2359632	NM_145201.6(NAPRT):c.256C>T (p.Pro86Ser)	NAPRT (P86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341921	NM_145201.6(NAPRT):c.242C>A (p.Ala81Asp)	NAPRT (A81D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734151	NM_145201.6(NAPRT):c.218G>A (p.Arg73Gln)	NAPRT (R73Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2596871	NM_145201.6(NAPRT):c.194G>A (p.Arg65His)	NAPRT (R65H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228151	NM_145201.6(NAPRT):c.181C>A (p.Arg61Ser)	NAPRT (R61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490583	NM_145201.6(NAPRT):c.158C>T (p.Ala53Val)	NAPRT (A53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481715	NM_145201.6(NAPRT):c.154G>C (p.Gly52Arg)	NAPRT (G52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534310	NM_145201.6(NAPRT):c.111C>G (p.Asp37Glu)	NAPRT (D37E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534309	NM_145201.6(NAPRT):c.107G>A (p.Arg36Gln)	NAPRT (R36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175284	NM_145201.6(NAPRT):c.101G>A (p.Arg34Gln)	NAPRT (R34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478874	NM_145201.6(NAPRT):c.82G>A (p.Gly28Ser)	NAPRT (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251584	NM_145201.6(NAPRT):c.77C>T (p.Ala26Val)	NAPRT (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593937	NM_145201.6(NAPRT):c.67G>A (p.Ala23Thr)	NAPRT (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175369	NM_145201.6(NAPRT):c.55G>C (p.Asp19His)	NAPRT (D19H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228807	NM_145201.6(NAPRT):c.44C>A (p.Pro15Gln)	NAPRT (P15Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377406	NM_145201.6(NAPRT):c.38C>G (p.Ala13Gly)	NAPRT (A13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175355	NM_145201.6(NAPRT):c.4G>A (p.Ala2Thr)	NAPRT (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic

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