17042[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 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 2504989	NM_078480.3(PUF60):c.1679G>C (p.Ter560Ser)	PUF60	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3149778	NM_078480.3(PUF60):c.1676C>T (p.Ala559Val)	PUF60 (A516V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984580	NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs)	PUF60 (S498fs +9 more)	Microsatellite (frameshift variant)	PUF60-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2690939	NM_078480.3(PUF60):c.1658A>G (p.Asp553Gly)	PUF60 (D493G +9 more)	Single nucleotide variant (missense variant)	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	GPathogenic
Select item 2663765	NM_078480.3(PUF60):c.1625T>A (p.Val542Glu)	PUF60 (V482E +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 2502036	NM_078480.3(PUF60):c.1606T>A (p.Trp536Arg)	PUF60 (W476R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425568	NM_078480.3(PUF60):c.1577_1587del (p.His526fs)	PUF60 (H466fs +9 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3346606	NM_078480.3(PUF60):c.1572_1579dup (p.Lys527fs)	PUF60 (K467fs +9 more)	Duplication (frameshift variant)	PUF60-related disorder	GLikely pathogenic
Select item 2637314	NM_078480.3(PUF60):c.1570G>C (p.Glu524Gln)	PUF60 (E464Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 973253	NM_078480.3(PUF60):c.1569dup (p.Glu524Ter)	PUF60 (E544* +9 more)	Duplication (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 774250	NM_078480.3(PUF60):c.1569T>C (p.Ser523=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2455583	NM_078480.3(PUF60):c.1565C>T (p.Ala522Val)	PUF60 (A462V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 666578	NM_078480.3(PUF60):c.1558del (p.Ser520fs)	PUF60 (S460fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 3036484	NM_078480.3(PUF60):c.1554G>A (p.Glu518=)	PUF60	Single nucleotide variant (synonymous variant)	PUF60-related disorder	GLikely benign
Select item 1527938	NM_078480.3(PUF60):c.1550T>G (p.Val517Gly)	PUF60 (V457G +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 421110	NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del)	PUF60 (I498del +9 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1031058	NM_078480.3(PUF60):c.1489A>G (p.Ile497Val)	PUF60 (I437V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 425566	NM_078480.3(PUF60):c.1472G>A (p.Gly491Glu)	PUF60 (G491E +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 986397	NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	PUF60 (G431R +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334132	NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg)	PUF60 (C427R +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 3149777	NM_078480.3(PUF60):c.1453GAG[1] (p.Glu486del)	PUF60 (E485del +9 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 599208	NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)	PUF60 (V483A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 3030123	NM_078480.3(PUF60):c.1410G>A (p.Val470=)	PUF60	Single nucleotide variant (synonymous variant)	PUF60-related disorder	GLikely benign
Select item 3057106	NM_078480.3(PUF60):c.1399C>T (p.Arg467Cys)	PUF60 (R407C +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 997952	NM_078480.3(PUF60):c.1399C>G (p.Arg467Gly)	PUF60 (R407G +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 2435303	NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)	PUF60 (T402A +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435302	NM_078480.3(PUF60):c.1381-3_1381-2del	PUF60	Microsatellite (splice acceptor variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 374297	NM_078480.3(PUF60):c.1381-2A>G	PUF60	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 3046672	NM_078480.3(PUF60):c.1381-3C>T	PUF60	Single nucleotide variant (intron variant)	PUF60-related disorder	GLikely benign
Select item 2582366	NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)	PUF60 (Q399R +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 3252698	NM_078480.3(PUF60):c.1370G>A (p.Arg457His)	PUF60 (R397H +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722774	NM_078480.3(PUF60):c.1357C>T (p.Gln453Ter)	PUF60 (Q393* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 599206	NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter)	PUF60 (R448* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome +1 more	GPathogenic
Select item 789605	NM_078480.3(PUF60):c.1329G>C (p.Ser443=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2442768	NM_078480.3(PUF60):c.1328C>T (p.Ser443Leu)	PUF60 (S383L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591075	NM_078480.3(PUF60):c.1328C>A (p.Ser443Ter)	PUF60 (S443* +9 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 545569	NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter)	PUF60 (Q437* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 2505720	NM_078480.3(PUF60):c.1292C>A (p.Pro431Gln)	PUF60 (P371Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031057	NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu)	PUF60 (P371L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2411082	NM_078480.3(PUF60):c.1289G>T (p.Arg430Leu)	PUF60 (R429L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1311349	NM_078480.3(PUF60):c.1276C>T (p.Pro426Ser)	PUF60 (P366S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591763	NM_078480.3(PUF60):c.1264GAG[1] (p.Glu423del)	PUF60 (E423del +9 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 722846	NM_078480.3(PUF60):c.1266G>A (p.Glu422=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773780	NM_078480.3(PUF60):c.1254G>A (p.Glu418=)	PUF60	Single nucleotide variant (synonymous variant)	8q24.3 microdeletion syndrome +1 more	GBenign/Likely benign
Select item 3311718	NM_078480.3(PUF60):c.1247A>G (p.Lys416Arg)	PUF60 (K356R +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337825	NM_078480.3(PUF60):c.1226C>A (p.Thr409Lys)	PUF60 (T446K +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571980	NM_078480.3(PUF60):c.1220C>T (p.Pro407Leu)	PUF60 (P347L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435304	NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)	PUF60 (S336L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 916052	NM_078480.3(PUF60):c.1187C>A (p.Ser396Ter)	PUF60 (S336* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 372836	NM_078480.3(PUF60):c.1183_1187del (p.Pro395fs)	PUF60 (P335fs +9 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2662242	NM_078480.3(PUF60):c.1175T>C (p.Val392Ala)	PUF60 (V332A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033064	NM_078480.3(PUF60):c.1172C>T (p.Pro391Leu)	PUF60 (P331L +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 735473	NM_078480.3(PUF60):c.1162CCT[1] (p.Pro389del)	PUF60 (P343del +9 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1333184	NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs)	PUF60 (P325fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1050229	NM_078480.3(PUF60):c.1159C>G (p.Arg387Gly)	PUF60 (R327G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756395	NM_078480.3(PUF60):c.1145-6C>T	PUF60	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691649	NM_078480.3(PUF60):c.1123C>T (p.Gln375Ter)	PUF60 (Q315* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 425572	NM_078480.3(PUF60):c.1094dup (p.Thr366fs)	PUF60 (T337fs +9 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 948645	NM_078480.3(PUF60):c.1094G>C (p.Gly365Ala)	PUF60 (G348A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520432	NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs)	PUF60 (L318fs +9 more)	Indel (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 3149776	NM_078480.3(PUF60):c.1066C>T (p.Pro356Ser)	PUF60 (P296S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658917	NM_078480.3(PUF60):c.1065C>T (p.Ser355=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636369	NM_078480.3(PUF60):c.1051C>G (p.Pro351Ala)	PUF60 (P291A +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 2435300	NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)	PUF60 (G289A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2658918	NM_078480.3(PUF60):c.1029G>A (p.Ala343=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662706	NM_078480.3(PUF60):c.1021G>A (p.Gly341Arg)	PUF60 (G281R +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 425570	NM_078480.3(PUF60):c.1008+1G>A	PUF60	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3075702	NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter)	PUF60 (Q276* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 430000	NM_078480.3(PUF60):c.993del (p.Lys332fs)	PUF60 (K314fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 425564	NM_078480.3(PUF60):c.931_932insAAAA (p.Thr311fs)	PUF60 (T251fs +9 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 800900	NM_078480.3(PUF60):c.931del (p.Thr311fs)	PUF60 (T251fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 2435301	NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)	PUF60 (P245L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 599207	NM_078480.3(PUF60):c.901A>T (p.Lys301Ter)	PUF60 (K301* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 3064988	NM_078480.3(PUF60):c.896T>A (p.Val299Glu)	PUF60 (V239E +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +1 more	GLikely pathogenic
Select item 3337501	NM_078480.3(PUF60):c.891dup (p.Arg298fs)	PUF60 (R238fs +9 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1333187	NM_078480.3(PUF60):c.860dup (p.Met287fs)	PUF60 (M227fs +9 more)	Duplication (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic

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